TATA box human genes: Difference between revisions

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===Gene ID: 19===
===Gene ID: 19===
 
{{main|TATA box ATP-binding cassette transporter superfamily}}
"The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency."<ref name=RefSeq19>{{ cite web
|author=RefSeq
|title=ABCA1 ATP binding cassette subfamily A member 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2019
|url=http://www.ncbi.nlm.nih.gov/gene/19
|accessdate=2024-06-19 }}</ref>


===Gene ID: 58===
===Gene ID: 58===
 
{{main|TATA box actin/cytoskeleton/contractile family}}
"The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia."<ref name=RefSeq58>{{ cite web
|author=RefSeq
|title=ACTA1 actin alpha 1, skeletal muscle [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2019
|url=http://www.ncbi.nlm.nih.gov/gene/58
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAAA) from -28 to -22 nts from the TSS.<ref name=Jin/>


===Gene ID: 60===
===Gene ID: 60===
 
{{main|TATA box actin/cytoskeleton/contractile family}}
"This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome."<ref name=RefSeq60>{{ cite web
|author=RefSeq
|title=ACTB actin beta [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/60
|accessdate=2024-06-19 }}</ref>


===Gene ID: 70===
===Gene ID: 70===
 
{{main|TATA box actin/cytoskeleton/contractile family}}
"Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC)."<ref name=RefSeq70>{{ cite web
|author=RefSeq
|title=ACTC1 actin alpha cardiac muscle 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/70
|accessdate=2024-06-14 }}</ref>


===Gene ID: 133===
===Gene ID: 133===
Line 151: Line 119:


===Gene ID: 173===
===Gene ID: 173===
 
{{main|TATA box albumin family}}
"This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream."<ref name=RefSeq173>{{ cite web
|author=RefSeq
|title=AFM afamin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/173
|accessdate=2024-06-18 }}</ref>


===Gene ID: 174===
===Gene ID: 174===
Line 173: Line 133:


===Gene ID: 183===
===Gene ID: 183===
{{main|TATA box serpin superfamily}}


"The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease."<ref name=RefSeq183>{{ cite web
===Gene ID: 185===
|author=RefSeq
 
|title=AGT angiotensinogen [ Homo sapiens ]
"Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants."<ref name=RefSeq185>{{ cite web
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2019
|url=http://www.ncbi.nlm.nih.gov/gene/183
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAAT) from -32 to -25 nts from the TSS.<ref name=Jin/>
 
===Gene ID: 185===
 
"Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants."<ref name=RefSeq185>{{ cite web
|author=RefSeq
|author=RefSeq
|title=AGTR1 angiotensin II receptor type 1 [ Homo sapiens ]
|title=AGTR1 angiotensin II receptor type 1 [ Homo sapiens ]
Line 206: Line 158:


===Gene ID: 229===
===Gene ID: 229===
 
{{main|TATA box aldolase family}}
"Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance."<ref name=RefSeq229>{{ cite web
|author=RefSeq
|title=ALDOB aldolase, fructose-bisphosphate B [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2008
|url=http://www.ncbi.nlm.nih.gov/gene/229
|accessdate=2024-06-18 }}</ref>


===Gene ID: 230===
===Gene ID: 230===
{{main|TATA box aldolase family}}


"This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively."<ref name=RefSeq230>{{ cite web
===Gene ID: 249===
|author=RefSeq
{{main|TATA box alkaline phosphatase family}}
|title=ALDOC aldolase, fructose-bisphosphate C [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/230
|accessdate=2024-06-18 }}</ref>


===Gene ID: 249===
===Gene ID: 262===


"This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects."<ref name=RefSeq249>{{ cite web
"This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y."<ref name=RefSeq262>{{ cite web
|author=RefSeq
|author=RefSeq
|title=ALPL alkaline phosphatase, biomineralization associated [ Homo sapiens ]
|title=AMD1 adenosylmethionine decarboxylase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=October 2015
|date=December 2013
|url=http://www.ncbi.nlm.nih.gov/gene/249
|url=http://www.ncbi.nlm.nih.gov/gene/262
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAGG) from -31 to -25 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-20 }}</ref>


===Gene ID: 265===
===Gene ID: 265===
 
{{main|TATA box amelogenin family}}
"This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms."<ref name=RefSeq265>{{ cite web
|author=RefSeq
|title=AMELX amelogenin X-linked [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/265
|accessdate=2024-06-18 }}</ref>


===Gene ID: 279===
===Gene ID: 279===
{{main|TATA box amylase family}}


"This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas."<ref name=RefSeq279>{{ cite web
===Gene ID: 280===
|author=RefSeq
{{main|TATA box amylase family}}
|title=AMY2A amylase alpha 2A [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2015
|url=http://www.ncbi.nlm.nih.gov/gene/279
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAAT) from -27 to -21 nts from the TSS.<ref name=Jin/>
 
===Gene ID: 280===
 
"Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas."<ref name=RefSeq280>{{ cite web
|author=RefSeq
|title=AMY2B amylase alpha 2B [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2013
|url=http://www.ncbi.nlm.nih.gov/gene/280
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAAT) from -30 to -24 nts from the TSS.<ref name=Jin/>


===Gene ID: 292===
===Gene ID: 292===
 
{{main|TATA box solute carrier family}}
"This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene."<ref name=RefSeq292>{{ cite web
|author=RefSeq
|title=SLC25A5 solute carrier family 25 member 5 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2013
|url=http://www.ncbi.nlm.nih.gov/gene/292
|accessdate=2024-06-18 }}</ref>


===Gene ID: 301===
===Gene ID: 301===
 
{{main|TATA box annexin family}}
"This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors."<ref name=RefSeq301>{{ cite web
|author=RefSeq
|title=ALDOC aldolase, fructose-bisphosphate C [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2014
|url=http://www.ncbi.nlm.nih.gov/gene/301
|accessdate=2024-06-18 }}</ref>


===Gene ID: 302===
===Gene ID: 302===
 
{{main|TATA box annexin family}}
"This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms."<ref name=RefSeq302>{{ cite web
|author=RefSeq
|title=ANXA2 annexin A2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2019
|url=http://www.ncbi.nlm.nih.gov/gene/302
|accessdate=2024-06-18 }}</ref>


===Gene ID: 314===
===Gene ID: 314===
Line 349: Line 240:


===Gene ID: 358===
===Gene ID: 358===
{{main|TATA box aquaporin family}}


"This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement."<ref name=RefSeq358>{{ cite web
===Gene ID: 359===
|author=RefSeq
{{main|TATA box aquaporin family}}
|title=AQP1 aquaporin 1 (Colton blood group) [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2016
|url=http://www.ncbi.nlm.nih.gov/gene/358
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 359===
 
"This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus."<ref name=RefSeq359>{{ cite web
|author=RefSeq
|title=AQP2 aquaporin 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/359
|accessdate=2024-06-18 }}</ref>


===Gene ID: 360===
===Gene ID: 360===
 
{{main|TATA box aquaporin family}}
"This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms."<ref name=RefSeq360>{{ cite web
|author=RefSeq
|title=AQP3 aquaporin 3 (Gill blood group) [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2015
|url=http://www.ncbi.nlm.nih.gov/gene/360
|accessdate=2024-06-18 }}</ref>


===Gene ID: 374===
===Gene ID: 374===
 
{{main|TATA box epidermal growth factor family}}
"The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions."<ref name=RefSeq374>{{ cite web
|author=RefSeq
|title=AREG amphiregulin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2014
|url=http://www.ncbi.nlm.nih.gov/gene/374
|accessdate=2024-06-18 }}</ref>


===Gene ID: 383===
===Gene ID: 383===
Line 404: Line 263:


===Gene ID: 390===
===Gene ID: 390===
 
{{main|TATA box small GTPase superfamily}}
"This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified."<ref name=RefSeq390>{{ cite web
|author=RefSeq
|title=RND3 Rho family GTPase 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2011
|url=http://www.ncbi.nlm.nih.gov/gene/390
|accessdate=2024-06-18 }}</ref>


===Gene ID: 467===
===Gene ID: 467===
{{main|TATA box CREB family}}


"This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes."<ref name=RefSeq467>{{ cite web
===Gene ID: 468===
|author=RefSeq
{{main|TATA box CREB family}}
|title=ATF3 activating transcription factor 3 [ Homo sapiens ]
 
|publisher=ncbi.nlm.nih
===Gene ID: 481===
|location=Bethsda, Maryland, USA
{{main|TATA box ATPases family}}
|date=April 2011
|url=http://www.ncbi.nlm.nih.gov/gene/467
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATAAAA) from -33 to -27 nts from the TSS.<ref name=Jin/>


===Gene ID: 468===
===Gene ID: 482===
{{main|TATA box ATPases family}}


"This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication."<ref name=RefSeq468>{{ cite web
===Gene ID: 496===
|author=RefSeq
{{main|TATA box ATPases family}}
|title=ATF4 activating transcription factor 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2011
|url=http://www.ncbi.nlm.nih.gov/gene/468
|accessdate=2024-06-18 }}</ref>


===Gene ID: 481===
===Gene ID: 515===


"The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known."<ref name=RefSeq481>{{ cite web
"This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel."<ref name=RefSeq515>{{ cite web
|author=RefSeq
|author=RefSeq
|title=ATP1B1 ATPase Na+/K+ transporting subunit beta 1 [ Homo sapiens ]
|title=ATP5PB ATP synthase peripheral stalk-membrane subunit b [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=March 2010
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/481
|url=http://www.ncbi.nlm.nih.gov/gene/515
|accessdate=2024-06-09 }}</ref> It has a TATA box (TATATAG) from -28 to -22 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-09 }}</ref> ATP5PB aka ATP5F1.<ref name=RefSeq515/> It has a TATA box (TTTAAAA) from -34 to -28 nts from the TSS.<ref name=Jin/>


===Gene ID: 482===
===Gene ID: 604===


"The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq482>{{ cite web
"The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene."<ref name=RefSeq604>{{ cite web
|author=RefSeq
|author=RefSeq
|title=ATP1B2 ATPase Na+/K+ transporting subunit beta 2 [ Homo sapiens ]
|title=BCL6 BCL6 transcription repressor [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=December 2014
|date=August 2015
|url=http://www.ncbi.nlm.nih.gov/gene/482
|url=http://www.ncbi.nlm.nih.gov/gene/604
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-06-20 }}</ref>


===Gene ID: 496===
===Gene ID: 676===


"The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase."<ref name=RefSeq496>{{ cite web
"BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene."<ref name=RefSeq676>{{ cite web
|author=RefSeq
|author=RefSeq
|title=ATP4B ATPase H+/K+ transporting subunit beta [ Homo sapiens ]
|title=BRDT bromodomain testis associated [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/496
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 515===
 
"This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel."<ref name=RefSeq515>{{ cite web
|author=RefSeq
|title=ATP5PB ATP synthase peripheral stalk-membrane subunit b [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/515
|accessdate=2024-06-09 }}</ref> ATO5PB aka ATP5F1.<ref name=RefSeq515/> It has a TATA box (TTTAAAA) from -34 to -28 nts from the TSS.<ref name=Jin/>
 
===Gene ID: 676===
 
"BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene."<ref name=RefSeq676>{{ cite web
|author=RefSeq
|title=BRDT bromodomain testis associated [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
Line 492: Line 314:


===Gene ID: 677===
===Gene ID: 677===
{{main|TATA box early response family}}


"This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq677>{{ cite web
===Gene ID: 694===
|author=RefSeq
{{main|TATA box anti-proliferative family}}
|title=ZFP36L1 ZFP36 ring finger protein like 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2011
|url=http://www.ncbi.nlm.nih.gov/gene/677
|accessdate=2024-06-18 }}</ref>


===Gene ID: 694===
===Gene ID: 759===
 
{{main|TATA box zinc metalloenzyme family}}
"This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia."<ref name=RefSeq694>{{ cite web
|author=RefSeq
|title=BTG1 BTG anti-proliferation factor 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/694
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 759===
 
"Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants."<ref name=RefSeq759>{{ cite web
|author=RefSeq
|title=CA1 carbonic anhydrase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2016
|url=http://www.ncbi.nlm.nih.gov/gene/759
|accessdate=2024-06-18 }}</ref>


===Gene ID: 760===
===Gene ID: 760===
 
{{main|TATA box carbonic anhydrase family}}
"The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq760>{{ cite web
|author=RefSeq
|title=CA2 carbonic anhydrase 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2014
|url=http://www.ncbi.nlm.nih.gov/gene/760
|accessdate=2024-06-18 }}</ref>


===Gene ID: 762===
===Gene ID: 762===
 
{{main|TATA box zinc metalloenzyme family}}
"Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport."<ref name=RefSeq762>{{ cite web
|author=RefSeq
|title=CA4 carbonic anhydrase 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/762
|accessdate=2024-06-18 }}</ref>


===Gene ID: 767===
===Gene ID: 767===
{{main|TATA box carbonic anhydrase family}}


"The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants."<ref name=RefSeq767>{{ cite web
===Gene ID: 794===
|author=RefSeq
{{main|TATA box troponin superfamily}}
|title=CA8 carbonic anhydrase 8 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2016
|url=http://www.ncbi.nlm.nih.gov/gene/767
|accessdate=2024-06-18 }}</ref>


===Gene ID: 811===
===Gene ID: 811===
Line 591: Line 368:


===Gene ID: 1044===
===Gene ID: 1044===
{{main|TATA box homeobox family}}


"This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity."<ref name=RefSeq1044>{{ cite web
===Gene ID: 1051===
|author=RefSeq
 
|title=CDX1 caudal type homeobox 1 [ Homo sapiens ]
"This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions."<ref name=RefSeq1051>{{ cite web
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1044
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 1051===
 
"This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions."<ref name=RefSeq1051>{{ cite web
|author=RefSeq
|author=RefSeq
|title=CEBPB CCAAT enhancer binding protein beta [ Homo sapiens ]
|title=CEBPB CCAAT enhancer binding protein beta [ Homo sapiens ]
Line 613: Line 382:


===Gene ID: 1081===
===Gene ID: 1081===
 
{{main|TATA box glycoprotein hormone alpha chain family}}
"The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq1081>{{ cite web
|author=RefSeq
|title=CGA glycoprotein hormones, alpha polypeptide [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2011
|url=http://www.ncbi.nlm.nih.gov/gene/1081
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1101===
===Gene ID: 1101===
Line 635: Line 396:


===Gene ID: 1116===
===Gene ID: 1116===
{{main|TATA box hydrolase family}}


"Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling."<ref name=RefSeq1116>{{ cite web
===Gene ID: 1152===
|author=RefSeq
{{main|TATA box phosphotransferase family}}
|title=CHI3L1 chitinase 3 like 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/1116
|accessdate=2024-06-09 }}</ref> It has a TATA box (CATAAAA) from -30 to -24 nts from the TSS.<ref name=Jin/>


===Gene ID: 1152===
===Gene ID: 1153===


"The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized."<ref name=RefSeq1152>{{ cite web
"Enables mRNA 3'-UTR binding activity and small ribosomal subunit rRNA binding activity. Involved in mRNA stabilization; positive regulation of translation; and response to UV. Located in cytoplasm and nucleoplasm."<ref name=AllianceofGenomeResources1153>{{ cite web
|author=RefSeq
|author=Alliance of Genome Resources
|title=CKB creatine kinase B [ Homo sapiens ]
|title=CIRBP cold inducible RNA binding protein [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=July 2008
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/1152
|url=http://www.ncbi.nlm.nih.gov/gene/1153
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 1158===
{{main|TATA box phosphotransferase family}}


===Gene ID: 1160===
===Gene ID: 1160===
{{main|TATA box creatine kinase isoenzyme family}}


"Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene."<ref name=RefSeq1160>{{ cite web
===Gene ID: 1180===
|author=RefSeq
{{main|TATA box voltage-dependent chloride channel family}}
|title=CKMT2 creatine kinase, mitochondrial 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1160
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 1180===
 
"The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants."<ref name=RefSeq1180>{{ cite web
|author=RefSeq
|title=CLCN1 chloride voltage-gated channel 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2012
|url=http://www.ncbi.nlm.nih.gov/gene/1180
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1188===
===Gene ID: 1188===
 
{{main|TATA box voltage-gated chloride channel family}}
"The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq1188>{{ cite web
|author=RefSeq
|title=CLCNKB chloride voltage-gated channel Kb [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/1188
|accessdate=2024-06-10 }}</ref> It has a TATA box (CATAAAC) from -30 to -24 nts from the TSS.<ref name=Jin/>


===Gene ID: 1191===
===Gene ID: 1191===
Line 701: Line 436:


===Gene ID: 1215===
===Gene ID: 1215===
 
{{main|TATA box peptidase family}}
"This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants."<ref name=RefSeq1215>{{ cite web
|author=RefSeq
|title=CMA1 chymase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2015
|url=http://www.ncbi.nlm.nih.gov/gene/1215
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1277===
===Gene ID: 1277===
Line 745: Line 472:


===Gene ID: 1382===
===Gene ID: 1382===
{{main|TATA box retinoic acid family}}
{{main|TATA box lipocalin family}}


"This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene."<ref name=RefSeq1382>{{ cite web
===Gene ID: 1392===
|author=RefSeq
{{main|TATA box corticotropin-releasing factor family}}
|title=CRABP2 cellular retinoic acid binding protein 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2010
|url=http://www.ncbi.nlm.nih.gov/gene/1382
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAA) from -32 to -26 nts from the TSS.<ref name=Jin/>


===Gene ID: 1392===
===Gene ID: 1393===
 
{{main|TATA box corticotropin-releasing factor family}}
"This gene encodes a member of the corticotropin-releasing factor family. The encoded preproprotein is proteolytically processed to generate the mature neuropeptide hormone. In response to stress, this hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus, binds to corticotropin releasing hormone receptors and stimulates the release of adrenocorticotropic hormone from the pituitary gland. Marked reduction in this protein has been observed in association with Alzheimer's disease. Autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes, and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition."<ref name=RefSeq1392>{{ cite web
|author=RefSeq
|title=CRH corticotropin releasing hormone [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2015
|url=http://www.ncbi.nlm.nih.gov/gene/1392
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 1393===
 
"Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy."<ref name=RefSeq1393>{{ cite web
|author=RefSeq
|title=CRHBP corticotropin releasing hormone binding protein [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1393
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1401===
===Gene ID: 1401===
{{main|TATA box pentraxin family}}


"The protein encoded by this gene belongs to the pentraxin family which also includes serum amyloid P component protein and pentraxin 3. Pentraxins are involved in complement activation and amplification via communication with complement initiation pattern recognition molecules, but also complement regulation via recruitment of complement regulators. The encoded protein has a calcium dependent ligand binding domain with a distinctive flattened beta-jellyroll structure. It exists in two forms as either a pentamer in circulation or as a nonsoluble monomer in tissues. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS&#8208;CoV&#8208;2) infection."<ref name=RefSeq1401>{{ cite web
===Gene ID: 1410===
|author=RefSeq
{{main|TATA box heat shock family}}
|title=CRP C-reactive protein [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2020
|url=http://www.ncbi.nlm.nih.gov/gene/1401
|accessdate=2024-06-19 }}</ref>


===Gene ID: 1411===
===Gene ID: 1411===
{{main|TATA box crystallin superfamily}}


"Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'."<ref name=RefSeq1411>{{ cite web
===Gene ID: 1427===
|author=RefSeq
{{main|TATA box crystallin superfamily}}
|title=CRYBA1 crystallin beta A1 [ Homo sapiens ]
 
|publisher=ncbi.nlm.nih
===Gene ID: 1440===
|location=Bethsda, Maryland, USA
{{main|TATA box cytokine superfamily}}
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1411
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1427===
===Gene ID: 1490===
{{main|TATA box platelet-derived growth factors}}


"Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation."<ref name=RefSeq1427>{{ cite web
===Gene ID: 1543===
|author=RefSeq
{{main|TATA box cytochrome superfamily}}
|title=CRYGS crystallin gamma S [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1427
|accessdate=2024-06-19 }}</ref>


===Gene ID: 1440===
===Gene ID: 1544===
{{main|TATA box cytochrome superfamily}}


"This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene."<ref name=RefSeq1440>{{ cite web
===Gene ID: 1548===
|author=RefSeq
{{main|TATA box cytochrome superfamily}}
|title=CSF3 colony stimulating factor 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=May 2020
|url=http://www.ncbi.nlm.nih.gov/gene/1440
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1490===
===Gene ID: 1553===
{{main|TATA box cytochrome superfamily}}


"The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis."<ref name=RefSeq1490>{{ cite web
===Gene ID: 1571===
|author=RefSeq
{{main|TATA box cytochrome superfamily}}
|title=CCN2 cellular communication network factor 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2009
|url=http://www.ncbi.nlm.nih.gov/gene/1490
|accessdate=2024-06-19 }}</ref>


===Gene ID: 1543===
===Gene ID: 1576===
{{main|TATA box cytochrome superfamily}}


"This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms."<ref name=RefSeq1543>{{ cite web
===Gene ID: 1581===
|author=RefSeq
{{main|TATA box cytochrome superfamily}}
|title=CYP1A1 cytochrome P450 family 1 subfamily A member 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2016
|url=http://www.ncbi.nlm.nih.gov/gene/1543
|accessdate=2024-06-19 }}</ref>
 
===Gene ID: 1544===
 
"This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region."<ref name=RefSeq1544>{{ cite web
|author=RefSeq
|title=CYP1A2 cytochrome P450 family 1 subfamily A member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1544
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 1548===
 
===Gene ID: 1553===
 
===Gene ID: 1571===
 
"This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer."<ref name=RefSeq1571>{{ cite web
|author=RefSeq
|title=CYP2E1 cytochrome P450 family 2 subfamily E member 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1571
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 1576===
 
===Gene ID: 1581===


===Gene ID: 1602===
===Gene ID: 1602===
Line 890: Line 537:
|accessdate=2012-12-26 }}</ref>
|accessdate=2012-12-26 }}</ref>


Gene ID: 1602 is the human gene DACH1 dachshund homolog 1 also known as DACH.<ref name=HGNC1602>{{ cite web
Gene ID: 1602 is the human gene DACH1 dachshund homolog 1 also known as DACH.<ref name=Kozmik>{{ cite web
|author=HGNC
|author=Kozmik Z et al.
|title=DACH1 dachshund homolog 1 (Drosophila) [ Homo sapiens ]
|title=Localization of the human homologue of the Drosophila dachshund gene (DACH) to chromosome 13q21.
|publisher=National Human Genome Research Institute
|journal=Genomics
|location=Bethsda, Maryland, USA
|date=July 1999
|volume=59
|issue=1
|pages=110-111
|url=https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2663
|accessdate=2024-07-01 }}</ref> DACH1 has three isoforms: a, b, c, and d.<ref name=RefSeq1602/>
 
"This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis."<ref name=RefSeq1602>{{ cite web
|author=RefSeq
|title=DACH1 dachshund family transcription factor 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=December 20, 2012
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/1602
|url=http://www.ncbi.nlm.nih.gov/gene/1602
|accessdate=2012-12-26 }}</ref> DACH1 has three isoforms: a, b, and c.
|accessdate=2012-12-26 }}</ref>
 
"This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis."<ref name=HGNC1602/>


===Gene ID: 1655===
===Gene ID: 1655===
{{main|TATA box DEAD box family}}


"This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants."<ref name=RefSeq1655>{{ cite web
===Gene ID: 1728===
|author=RefSeq
{{main|TATA box quinone family}}
|title=DDX5 DEAD-box helicase 5 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2017
|url=http://www.ncbi.nlm.nih.gov/gene/1655
|accessdate=2024-06-18 }}</ref>


===Gene ID: 1735===
===Gene ID: 1735===
{{main|TATA box iodothyronine deiodinase family}}


===Gene ID: 1805===
===Gene ID: 1805===
Line 926: Line 580:


===Gene ID: 1811===
===Gene ID: 1811===
{{main|TATA box solute carrier family}}


The DRA gene (colon mucosa-associated gene) has a TATA box.<ref name=Suzuki>{{ cite journal
===Gene ID: 1831===
|author=Yutaka Suzuki, Tatsuhiko Tsunoda, Jun Sese, Hirotoshi Taira, Junko Mizushima-Sugano, Hiroko Hata, Toshio Ota, Takao Isogai, Toshihiro Tanaka, Yusuke Nakamura, Akira Suyama, Yoshiyuki Sakaki, Shinichi Morishita, Kousaku Okubo, and Sumio Sugano
|title=Identification and Characterization of the Potential Promoter Regions of 1031 Kinds of Human Genes
|journal=Genome Research
|doi=10.1101/gr.164001
|date=11 April 2001
|volume=11
|issue=5
|page=677-684 }}</ref>


===Gene ID: 1831===
"This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor &#954;B. Alternate splicing results in multiple transcript variants."<ref name=RefSeq1831>{{ cite web
|author=RefSeq
|title=TSC22D3 TSC22 domain family member 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2016
|url=http://www.ncbi.nlm.nih.gov/gene/1831
|accessdate=2024-06-19 }}</ref>


===Gene ID: 1833===
===Gene ID: 1833===
{{main|TATA box proteoglycan family}}


===Gene ID: 1893===
===Gene ID: 1893===
"This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene."<ref name=RefSeq1893>{{ cite web
|author=RefSeq
|title=ECM1 extracellular matrix protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=February 2011
|url=http://www.ncbi.nlm.nih.gov/gene/1893
|accessdate=2024-06-20 }}</ref>


===Gene ID: 1906===
===Gene ID: 1906===
{{main|TATA box endothelin family}}


===Gene ID: 1938===
===Gene ID: 1915===


===Gene ID: 1974===
"This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes."<ref name=RefSeq1915>{{ cite web
|author=RefSeq
|title=EEF1A1 eukaryotic translation elongation factor 1 alpha 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/1915
|accessdate=2024-06-20 }}</ref>


===Gene ID: 1990===
===Gene ID: 1938===
{{main|TATA box elongation factor family}}


===Gene ID: 1999===
===Gene ID: 1961===


"Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in inflammatory response; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; cytosol; and nucleoplasm."<ref name=Alliance of Genome Resources1999>{{ cite web
"Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of chromatin."<ref name=AllianceofGenomeResources1961>{{ cite web
|author=Alliance of Genome Resources
|title=EGR4 early growth response 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/1961
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 1974===
 
"Enables ATP hydrolysis activity. Involved in negative regulation of RNA-directed 5'-3' RNA polymerase activity. Located in perinuclear region of cytoplasm."<ref name=AllianceofGenomeResources1974>{{ cite web
|author=Alliance of Genome Resources
|title=EIF4A2 eukaryotic translation initiation factor 4A2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/1974
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 1990===
{{main|TATA box serine protease family}}
 
===Gene ID: 1999===
 
"Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in inflammatory response; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; cytosol; and nucleoplasm."<ref name=Alliance of Genome Resources1999>{{ cite web
|author=Alliance of Genome Resources
|author=Alliance of Genome Resources
|title=ELF3 E74 like ETS transcription factor 3 [ Homo sapiens ]
|title=ELF3 E74 like ETS transcription factor 3 [ Homo sapiens ]
Line 963: Line 661:


===Gene ID: 2168===
===Gene ID: 2168===
{{main|TATA box fatty acid binding family}}


===Gene ID: 2206===
===Gene ID: 2206===
{{main|TATA box membrane-spanning family}}
===Gene ID: 2244===
"The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency."<ref name=RefSeq2244>{{ cite web
|author=RefSeq
|title=FGB fibrinogen beta chain [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2020
|url=http://www.ncbi.nlm.nih.gov/gene/2244
|accessdate=2024-06-20 }}</ref>


===Gene ID: 2250===
===Gene ID: 2250===
{{main|TATA box fibroblast growth factor family}}


===Gene ID: 2321===
===Gene ID: 2321===
{{main|TATA box VEGFR family}}


===Gene ID: 2353===
===Gene ID: 2353===
{{main|TATA box Fos family}}


===Gene ID: 2494===
===Gene ID: 2494===
 
{{main|TATA box nuclear hormone receptor family}}
"The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development."<ref name=RefSeq2494>{{ cite web
|author=RefSeq
|title=NR5A2 nuclear receptor subfamily 5 group A member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2016
|url=http://www.ncbi.nlm.nih.gov/gene/2494
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAACA) from -28 to -21 nts from the TSS.<ref name=Jin/>


===Gene ID: 2538===
===Gene ID: 2538===
"Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys."<ref name=RefSeq2538>{{ cite web
|author=RefSeq
|title=G6PC1 glucose-6-phosphatase catalytic subunit 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=February 2011
|url=http://www.ncbi.nlm.nih.gov/gene/2538
|accessdate=2024-06-26 }}</ref>


===Gene ID: 2542===
===Gene ID: 2542===
{{main|TATA box solute carrier family}}


===Gene ID: 2597===
===Gene ID: 2597===
{{main|TATA box quinone family}}


===Gene ID: 2641===
===Gene ID: 2641===
"The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon."<ref name=RefSeq2641>{{ cite web
|author=RefSeq
|title=GCG glucagon [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/2641
|accessdate=2024-06-20 }}</ref>


===Gene ID: 2652===
===Gene ID: 2652===
{{main|TATA box opsin family}}


===Gene ID: 2669===
===Gene ID: 2669===
{{main|TATA box RAD/GEM family}}


===Gene ID: 2688===
===Gene ID: 2688===
{{main|TATA box somatotropin/prolactin family}}


===Gene ID: 2752===
===Gene ID: 2752===
 
{{main|TATA box glutamine synthetase family}}
"The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants."<ref name=RefSeq2752>{{ cite web
|author=RefSeq
|title=GLUL glutamate-ammonia ligase [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2014
|url=http://www.ncbi.nlm.nih.gov/gene/2752
|accessdate=2024-06-10 }}</ref> It has a TATA box (GATAAAG) from -30 to -24 nts from the TSS.<ref name=Jin/>


===Gene ID: 2780===
===Gene ID: 2780===
Line 1,018: Line 739:
|url=http://www.ncbi.nlm.nih.gov/gene/2780
|url=http://www.ncbi.nlm.nih.gov/gene/2780
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -30 to -23 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -30 to -23 nts from the TSS.<ref name=Jin/>
===Gene ID: 2814===
"Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133])."<ref name=OMIM2814>{{ cite web
|author=OMIM
|title=GP5 glycoprotein V platelet [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2010
|url=http://www.ncbi.nlm.nih.gov/gene/2814
|accessdate=2024-06-20 }}</ref>


===Gene ID: 2922===
===Gene ID: 2922===
{{main|TATA box bombesin-like family}}


===Gene ID: 2947===
===Gene ID: 2947===
"Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants."<ref name=RefSeq2947>{{ cite web
|author=RefSeq
|title=GSTM3 glutathione S-transferase mu 3 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=November 2008
|url=http://www.ncbi.nlm.nih.gov/gene/2947
|accessdate=2024-06-26 }}</ref>


===Gene ID: 2980===
===Gene ID: 2980===
Line 1,044: Line 786:
|url=http://www.ncbi.nlm.nih.gov/gene/2981
|url=http://www.ncbi.nlm.nih.gov/gene/2981
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAGG) from -30 to -24 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAGG) from -30 to -24 nts from the TSS.<ref name=Jin/>
===Gene ID: 3006===
{{main|TATA box histone family}}


===Gene ID: 3008===
===Gene ID: 3008===
{{main|TATA box histone family}}
===Gene ID: 3009===
{{main|TATA box histone family}}
===Gene ID: 3010===
{{main|TATA box histone family}}


===Gene ID: 3015===
===Gene ID: 3015===
{{main|TATA box histone family}}


===Gene ID: 3133===
===Gene ID: 3050===


===Gene ID: 3158===
"Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'."<ref name=RefSeq3050>{{ cite web
 
"The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq3158>{{ cite web
|author=RefSeq
|author=RefSeq
|title=HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 [ Homo sapiens ]
|title=HBZ hemoglobin subunit zeta [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=October 2009
|date=November 2009
|url=http://www.ncbi.nlm.nih.gov/gene/3158
|url=http://www.ncbi.nlm.nih.gov/gene/3050
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -30 to -24 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 3133===
 
"HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail."<ref name=RefSeq3133>{{ cite web
|author=RefSeq
|title=HLA-E major histocompatibility complex, class I, E [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/3133
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 3158===
{{main|TATA box HMG-CoA synthase family}}


===Gene ID: 3164===
===Gene ID: 3164===
{{main|TATA box steroid-thyroid hormone-retinoid receptor superfamily}}


===Gene ID: 3171===
===Gene ID: 3171===
{{main|TATA box forkhead family}}


===Gene ID: 3182===
===Gene ID: 3182===
{{main|TATA box heterogeneous nuclear ribonucleoprotein family}}


===Gene ID: 3206===
===Gene ID: 3206===
{{main|TATA box homeobox family}}


===Gene ID: 3222===
===Gene ID: 3222===
{{main|TATA box homeobox family}}


===Gene ID: 3232===
===Gene ID: 3232===
{{main|TATA box homeobox family}}


===Gene ID: 3273===
===Gene ID: 3273===
"This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels."<ref name=RefSeq3273>{{ cite web
|author=RefSeq
|title=HRG histidine rich glycoprotein [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=November 2014
|url=http://www.ncbi.nlm.nih.gov/gene/3273
|accessdate=2024-06-26 }}</ref>
===Gene ID: 3280===
{{main|TATA box basic helix-loop-helix family}}


===Gene ID: 3283===
===Gene ID: 3283===
Line 1,088: Line 871:


===Gene ID: 3284===
===Gene ID: 3284===
 
{{main|TATA box quinone family}}
"The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene."<ref name=RefSeq3284>{{ cite web
|author=RefSeq
|title=HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2009
|url=http://www.ncbi.nlm.nih.gov/gene/3284
|accessdate=2024-06-10 }}</ref> It has a TATA box (CATAAAG) from -30 to -24 nts from the TSS.<ref name=Jin/>


===Gene ID: 3304===
===Gene ID: 3304===
{{main|TATA box heat shock family}}


===Gene ID: 3308===
===Gene ID: 3308===
{{main|TATA box heat shock family}}


The ''Drosophila hsp70'' has a TATA box containing promoter.<ref name=Burke>{{ cite journal
===Gene ID: 3309===
| author = Thomas W. Burke and James T. Kadonaga
{{main|TATA box heat shock family}}
| title = The downstream core promoter element, DPE, is conserved from ''Drosophila'' to humans and is recognized by TAF<sub>II</sub>60 of ''Drosophila''
| date = November 15, 1997
| journal = Genes & Development
| volume = 11
| issue = 22
| pages = 3020–31
| url=http://genesdev.cshlp.org/content/11/22/3020.long
| doi = 10.1101/gad.11.22.3020
| pmid = 9367984
| pmc = 316699 }}</ref> This suggests that Gene ID: 3308 HSPA4 heat shock 70kDa protein 4 [''Homo sapiens''], also known as hsp70,<ref name=HGNC3308>{{ cite web
|author=HGNC
|title=HSPA4 heat shock 70kDa protein 4 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=February 3, 2013
|url=http://www.ncbi.nlm.nih.gov/gene/3308
|accessdate=2013-02-07 }}</ref> has a TATA box in its [[core promoter]].


===Gene ID: 3383===
===Gene ID: 3320===
{{main|TATA box heat shock family}}


===Gene ID: 3397===
===Gene ID: 3371===


===Gene ID: 3458===
"This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration."<ref name=RefSeq3371>{{ cite web
|author=RefSeq
|title=TNC tenascin C [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2011
|url=http://www.ncbi.nlm.nih.gov/gene/3371
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 3375===
{{main|TATA box calcitonin family}}
 
===Gene ID: 3383===
{{main|TATA box immunoglobulin like domain containing family}}
 
===Gene ID: 3397===
{{main|TATA box basic helix-loop-helix family}}
 
===Gene ID: 3458===
{{main|TATA box cytokine superfamily}}


===Gene ID: 3487===
===Gene ID: 3487===
{{main|TATA box growth factor superfamily}}


===Gene ID: 3491===
===Gene ID: 3491===
Line 1,142: Line 923:


===Gene ID: 3558===
===Gene ID: 3558===
{{main|TATA box cytokine superfamily}}
===Gene ID: 3565===
{{main|TATA box cytokine superfamily}}
===Gene ID: 3593===
{{main|TATA box cytokine superfamily}}


===Gene ID: 3596===
===Gene ID: 3596===
{{main|TATA box cytokine superfamily}}


===Gene ID: 3605===
===Gene ID: 3605===
{{main|TATA box cytokine superfamily}}


===Gene ID: 3624===
===Gene ID: 3624===
{{main|TATA box transforming growth factor superfamily}}


===Gene ID: 3630===
===Gene ID: 3630===
{{main|TATA box insulin superfamily}}


===Gene ID: 3640===
===Gene ID: 3640===
{{main|TATA box insulin superfamily}}


===Gene ID: 3662===
===Gene ID: 3662===
{{main|TATA box interferon family}}
===Gene ID: 3708===
"This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene."<ref name=RefSeq3708>{{ cite web
|author=RefSeq
|title=ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2009
|url=http://www.ncbi.nlm.nih.gov/gene/3708
|accessdate=2024-06-20 }}</ref>


===Gene ID: 3726===
===Gene ID: 3726===
"Enables sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor AP-1 complex. Biomarker of Hodgkin's lymphoma and anaplastic large cell lymphoma."<ref name=AllianceofGenomeResources3726>{{ cite web
|author=Alliance of Genome Resources
|title=JUNB JunB proto-oncogene, AP-1 transcription factor subunit [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/3726
|accessdate=2024-06-27 }}</ref>


===Gene ID: 3758===
===Gene ID: 3758===
"Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq3758>{{ cite web
|author=RefSeq
|title=KCNJ1 potassium inwardly rectifying channel subfamily J member 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/3758
|accessdate=2024-06-27 }}</ref>
===Gene ID: 3848===
{{main|TATA box keratin family}}


===Gene ID: 3858===
===Gene ID: 3858===
{{main|TATA box keratin family}}
===Gene ID: 3859===
{{main|TATA box keratin family}}


===Gene ID: 3860===
===Gene ID: 3860===
{{main|TATA box keratin family}}


===Gene ID: 3861===
===Gene ID: 3861===
{{main|TATA box keratin family}}


===Gene ID: 3872===
===Gene ID: 3872===
{{main|TATA box keratin family}}


===Gene ID: 3906===
===Gene ID: 3906===
"This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells."<ref name=RefSeq3906>{{ cite web
|author=RefSeq
|title=LALBA lactalbumin alpha [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/3906
|accessdate=2024-06-27 }}</ref>


===Gene ID: 3918===
===Gene ID: 3918===
 
{{main|TATA box laminin family}}
"Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature."<ref name=RefSeq3918>{{ cite web
|author=RefSeq
|title=LAMC2 laminin subunit gamma 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2011
|url=http://www.ncbi.nlm.nih.gov/gene/3918
|accessdate=2024-06-10 }}</ref> It has a TATA box (GATAAAA) from -33 to -27 nts from the TSS.<ref name=Jin/>


===Gene ID: 3938===
===Gene ID: 3938===
{{main|TATA box hydrolase family}}


===Gene ID: 3976===
===Gene ID: 3976===
{{main|TATA box cytokine superfamily}}
===Gene ID: 3977===
{{main|TATA box cytokine superfamily}}


===Gene ID: 3995===
===Gene ID: 3995===
 
{{main|TATA box fatty acid desaturase family}}
TATA box is TATAA.<ref name=Suzuki/>
 
The protein encoded by this FADS3 fatty acid desaturase 3 gene is "a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization."<ref name=HGNC3995>{{ cite web
|author=HGNC:3576
|title=FADS3 fatty acid desaturase 3 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=June 6, 2024
|url=http://www.ncbi.nlm.nih.gov/gene/3995
|accessdate=2024-06-07 }}</ref>


===Gene ID: 4014===
===Gene ID: 4014===
Line 1,209: Line 1,037:


===Gene ID: 4025===
===Gene ID: 4025===
{{main|TATA box peroxidase family}}


===Gene ID: 4049===
===Gene ID: 4049===
{{main|TATA box tumor necrosis factor family}}


===Gene ID: 4144===
===Gene ID: 4144===
"The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes."<ref name=RefSeq4144>{{ cite web
|author=RefSeq
|title=MAT2A methionine adenosyltransferase 2A [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=June 2011
|url=http://www.ncbi.nlm.nih.gov/gene/4144
|accessdate=2024-06-30 }}</ref>


===Gene ID: 4222===
===Gene ID: 4222===
{{main|TATA box homeobox family}}


===Gene ID: 4225===
===Gene ID: 4225===
"Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine."<ref name=RefSeq4225>{{ cite web
|author=RefSeq
|title=MEP1B meprin A subunit beta [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2011
|url=http://www.ncbi.nlm.nih.gov/gene/4225
|accessdate=2024-06-30 }}</ref>


===Gene ID: 4254===
===Gene ID: 4254===
"This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq4254>{{ cite web
|author=RefSeq
|title=KITLG KIT ligand [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4254
|accessdate=2024-07-02 }}</ref>


===Gene ID: 4256===
===Gene ID: 4256===
{{main|TATA box osteocalcin family}}


===Gene ID: 4284===
===Gene ID: 4284===
{{main|TATA box aquaporin family}}


===Gene ID: 4316===
===Gene ID: 4316===
{{main|TATA box peptidase family}}


===Gene ID: 4319===
===Gene ID: 4319===
{{main|TATA box peptidase family}}


===Gene ID: 4321===
===Gene ID: 4321===
{{main|TATA box peptidase family}}


===Gene ID: 4322===
===Gene ID: 4322===
{{main|TATA box peptidase family}}


===Gene ID: 4327===
===Gene ID: 4327===
{{main|TATA box metalloproteinase family}}


===Gene ID: 4357===
===Gene ID: 4357===


===Gene ID: 4435===
"This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene."<ref name=RefSeq4357>{{ cite web
|author=RefSeq
|title=MPST mercaptopyruvate sulfurtransferase [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4357
|accessdate=2024-06-27 }}</ref>
 
===Gene ID: 4435===
{{main|TATA box CREB family}}


===Gene ID: 4501===
===Gene ID: 4501===
{{main|TATA box CREB family}}


===Gene ID: 4504===
===Gene ID: 4504===
{{main|TATA box metallothionein family}}


===Gene ID: 4582===
===Gene ID: 4582===
{{main|TATA box mucin family}}
===Gene ID: 4609===


"This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants."<ref name=RefSeq4582>{{ cite web
"This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini."<ref name=RefSeq4609>{{ cite web
|author=RefSeq
|author=RefSeq
|title=MUC1 mucin 1, cell surface associated [ Homo sapiens ]
|title=MYC MYC proto-oncogene, bHLH transcription factor [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=ncbi.nlm.nih
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=Bethsda, Maryland, USA
|date=February 2011
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/4582
|url=http://www.ncbi.nlm.nih.gov/gene/4609
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -24 to -18 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-02 }}</ref>


===Gene ID: 4609===
===Gene ID: 4616===


===Gene ID: 4616===
"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth."<ref name=RefSeq4616>{{ cite web
|author=RefSeq
|title=GADD45B growth arrest and DNA damage inducible beta [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4616
|accessdate=2024-07-02 }}</ref>


===Gene ID: 4618===
===Gene ID: 4618===
{{main|TATA box basic helix-loop-helix family}}


===Gene ID: 4624===
===Gene ID: 4624===
"Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3."<ref name=RefSeq4624>{{ cite web
|author=RefSeq
|title=MYH6 myosin heavy chain 6 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=February 2017
|url=http://www.ncbi.nlm.nih.gov/gene/4624
|accessdate=2024-07-02 }}</ref>


===Gene ID: 4629===
===Gene ID: 4629===
"The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4."<ref name=RefSeq4629>{{ cite web
|author=RefSeq
|title=MYH11 myosin heavy chain 11 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=May 2022
|url=http://www.ncbi.nlm.nih.gov/gene/4629
|accessdate=2024-07-02 }}</ref>
===Gene ID: 4632===
{{main|TATA box ATPases family}}


===Gene ID: 4638===
===Gene ID: 4638===
"This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts."<ref name=RefSeq4638>{{ cite web
|author=RefSeq
|title=MYLK myosin light chain kinase [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4638
|accessdate=2024-07-02 }}</ref>


===Gene ID: 4653===
===Gene ID: 4653===
Line 1,277: Line 1,195:


===Gene ID: 4741===
===Gene ID: 4741===
"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms."<ref name=RefSeq4741>{{ cite web
|author=RefSeq
|title=NEFM neurofilament medium chain [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4741
|accessdate=2024-07-03 }}</ref>


===Gene ID: 4744===
===Gene ID: 4744===
"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene."<ref name=RefSeq4744>{{ cite web
|author=RefSeq
|title=NEFH neurofilament heavy chain [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4744
|accessdate=2024-07-03 }}</ref>


===Gene ID: 4747===
===Gene ID: 4747===
"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y."<ref name=RefSeq4747>{{ cite web
|author=RefSeq
|title=NEFL neurofilament light chain [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/4747
|accessdate=2024-07-03 }}</ref>


===Gene ID: 4842===
===Gene ID: 4842===


===Gene ID: 4843===
"The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene."<ref name=RefSeq4842>{{ cite web
 
===Gene ID: 4856===
 
===Gene ID: 4878===
 
"The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1."<ref name=RefSeq4878>{{ cite web
|author=RefSeq
|author=RefSeq
|title=NPPA natriuretic peptide A [ Homo sapiens ]
|title=NOS1 nitric oxide synthase 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2015
|date=February 2011
|url=http://www.ncbi.nlm.nih.gov/gene/4878
|url=http://www.ncbi.nlm.nih.gov/gene/4842
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAAAG) from -30 to -22 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-03 }}</ref>


===Gene ID: 4946===
===Gene ID: 4843===
 
===Gene ID: 5004===


===Gene ID: 5005===
"Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17."<ref name=RefSeq4843>{{ cite web
 
===Gene ID: 5016===
 
"This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions."<ref name=RefSeq5016>{{ cite web
|author=RefSeq
|author=RefSeq
|title=OVGP1 oviductal glycoprotein 1 [ Homo sapiens ]
|title=NOS2 nitric oxide synthase 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5016
|url=http://www.ncbi.nlm.nih.gov/gene/4843
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -25 to -19 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5033===
===Gene ID: 4856===


===Gene ID: 5034===
"The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development."<ref name=RefSeq4856>{{ cite web
|author=RefSeq
|title=CCN3 cellular communication network factor 3 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=February 2009
|url=http://www.ncbi.nlm.nih.gov/gene/4856
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5052===
===Gene ID: 4869===


"This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene."<ref name=RefSeq5052>{{ cite web
"The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified."<ref name=RefSeq869>{{ cite web
|author=RefSeq
|author=RefSeq
|title=PRDX1 peroxiredoxin 1 [ Homo sapiens ]
|title=NPM1 nucleophosmin 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=January 2011
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/5052
|url=http://www.ncbi.nlm.nih.gov/gene/4869
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -31 to -25 nts from the TSS.<ref name=Jin/>
|accessdate=2024-06-20 }}</ref>


===Gene ID: 5054===
===Gene ID: 4878===
 
"The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1."<ref name=RefSeq4878>{{ cite web
|author=RefSeq
|title=NPPA natriuretic peptide A [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2015
|url=http://www.ncbi.nlm.nih.gov/gene/4878
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAAAG) from -30 to -22 nts from the TSS.<ref name=Jin/>


===Gene ID: 5055===
===Gene ID: 4922===


===Gene ID: 5068===
"This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active."<ref name=RefSeq4922>{{ cite web
|author=RefSeq
|title=NTS neurotensin [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2014
|url=http://www.ncbi.nlm.nih.gov/gene/4922
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5069===
===Gene ID: 4946===


===Gene ID: 5079===
"The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene."<ref name=RefSeq4946>{{ cite web
|author=RefSeq
|title=OAZ1 ornithine decarboxylase antizyme 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=December 2014
|url=http://www.ncbi.nlm.nih.gov/gene/4946
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5132===
===Gene ID: 4982===


"This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified."<ref name=RefSeq5132>{{ cite web
"The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined."<ref name=RefSeq4982>{{ cite web
|author=RefSeq
|author=RefSeq
|title=PDC phosducin [ Homo sapiens ]
|title=TNFRSF11B TNF receptor superfamily member 11b [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5132
|url=http://www.ncbi.nlm.nih.gov/gene/4982
|accessdate=2024-06-10 }}</ref> It has a TATA box (TTTAAAT) from -32 to -26 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5155===
===Gene ID: 5004===


===Gene ID: 5224===
"This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression."<ref name=RefSeq5004>{{ cite web
|author=RefSeq
|title=ORM1 orosomucoid 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5004
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5225===
===Gene ID: 5005===


===Gene ID: 5275===
"This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression."<ref name=RefSeq5005>{{ cite web
|author=RefSeq
|title=ORM2 orosomucoid 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5005
|accessdate=2024-07-03 }}</ref>


===Gene ID: 5360===
===Gene ID: 5016===


===Gene ID: 5406===
"This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions."<ref name=RefSeq5016>{{ cite web
|author=RefSeq
|title=OVGP1 oviductal glycoprotein 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5016
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -25 to -19 nts from the TSS.<ref name=Jin/>


===Gene ID: 5408===
===Gene ID: 5033===


===Gene ID: 5514===
"This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described."<ref name=RefSeq5033>{{ cite web
|author=RefSeq
|title=P4HA1 prolyl 4-hydroxylase subunit alpha 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5033
|accessdate=2024-07-05 }}</ref>


===Gene ID: 5449===
===Gene ID: 5034===


===Gene ID: 5478===
"This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex."<ref name=RefSeq5034>{{ cite web
|author=RefSeq
|title=P4HB prolyl 4-hydroxylase subunit beta [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5034
|accessdate=2024-07-04 }}</ref>


===Gene ID: 5610===
===Gene ID: 5052===


===Gene ID: 5617===
"This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene."<ref name=RefSeq5052>{{ cite web
|author=RefSeq
|title=PRDX1 peroxiredoxin 1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=January 2011
|url=http://www.ncbi.nlm.nih.gov/gene/5052
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -31 to -25 nts from the TSS.<ref name=Jin/>


===Gene ID: 5645===
===Gene ID: 5054===
{{main|TATA box serpin superfamily}}


===Gene ID: 5650===
===Gene ID: 5055===
{{main|TATA box serpin superfamily}}


===Gene ID: 5741===
===Gene ID: 5068===
{{main|TATA box lectins superfamily}}


===Gene ID: 5743===
===Gene ID: 5069===
{{main|TATA box metalloproteinase family}}


"Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis."<ref name=RefSeq5743>{{ cite web
===Gene ID: 5079===
 
"This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms."<ref name=RefSeq5079>{{ cite web
|author=RefSeq
|author=RefSeq
|title=PTGS2 prostaglandin-endoperoxide synthase 2 [ Homo sapiens ]
|title=PAX5 paired box 5 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=February 2009
|date=July 2013
|url=http://www.ncbi.nlm.nih.gov/gene/5743
|url=http://www.ncbi.nlm.nih.gov/gene/5079
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAA) from -31 to -25 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-05 }}</ref>


"[T]he human ... prostaglandin-endoperoxide-synthase-2 [gene contains] a canonical TATA box (nucleotide residues at positions -31 to -25 for the human gene)."<ref name=Kosaka>{{ cite journal
===Gene ID: 5132===
|author=Tetsuya Kosaka, Atsuro Miyata, Hayato Ihara, Shuntaro Hara, Tamiko Sugimoto, Osamu Takeda, Ei-ichi Takahashi, Tadashi Tanabe
|title=Characterization of the human gene (PTGS2) encoding prostaglandin‐endoperoxide synthase 2
|journal=European Journal of Biochemistry
|date=May 1994
|volume=221
|issue=3
|pages=889-97
|url=http://onlinelibrary.wiley.com/doi/10.1111/j.1432-1033.1994.tb18804.x/full
|arxiv=
|bibcode=
|doi=10.1111/j.1432-1033.1994.tb18804.x
|pmid=
|accessdate=2012-12-26 }}</ref> This is Gene ID: 5743.


===Gene ID: 5950===
"This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified."<ref name=RefSeq5132>{{ cite web
 
|author=RefSeq
===Gene ID: 5956===
|title=PDC phosducin [ Homo sapiens ]
 
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
===Gene ID: 5967===
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5132
|accessdate=2024-06-10 }}</ref> It has a TATA box (TTTAAAT) from -32 to -26 nts from the TSS.<ref name=Jin/>
 
===Gene ID: 5155===
{{main|TATA box platelet-derived growth factors}}


===Gene ID: 5996===
===Gene ID: 5224===


"This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal."<ref name=RefSeq5996>{{ cite web
"Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase efficiency, also known as glycogen storage disease X."<ref name=RefSeq5224>{{ cite web
|author=RefSeq
|author=RefSeq
|title=RGS1 regulator of G protein signaling 1 [ Homo sapiens ]
|title=PGAM2 phosphoglycerate mutase 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/5996
|url=http://www.ncbi.nlm.nih.gov/gene/5224
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -28 to -22 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-05 }}</ref>
 
===Gene ID: 5225===
{{main|TATA box peptidase family}}
 
===Gene ID: 5275===
{{main|TATA box serpin superfamily}}


===Gene ID: 5997===
===Gene ID: 5360===


"Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis."<ref name=RefSeq5997>{{ cite web
"The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq5360>{{ cite web
|author=RefSeq
|author=RefSeq
|title=RGS2 regulator of G protein signaling 2 [ Homo sapiens ]
|title=PLTP phospholipid transfer protein [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=August 2009
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5997
|url=http://www.ncbi.nlm.nih.gov/gene/5360
|accessdate=2024-06-11 }}</ref> It has a TATA box (CATAAAT) from -28 to -22 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-05 }}</ref>


===Gene ID: 6046===
===Gene ID: 5406===
{{main|TATA box lipase family}}


===Gene ID: 6121===
===Gene ID: 5408===
{{main|TATA box lipase family}}
 
===Gene ID: 5443===


"The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital."<ref name=RefSeq6121>{{ cite web
"This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described."<ref name=RefSeq5443>{{ cite web
|author=RefSeq
|author=RefSeq
|title=RPE65 retinoid isomerohydrolase RPE65 [ Homo sapiens ]
|title=POMC proopiomelanocortin [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2017
|date=January 2016
|url=http://www.ncbi.nlm.nih.gov/gene/6121
|url=http://www.ncbi.nlm.nih.gov/gene/5443
|accessdate=2024-06-11 }}</ref> It has a TATA box (CATAAAA) from -27 to -21 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-06 }}</ref>


===Gene ID: 6175===
===Gene ID: 5449===


===Gene ID: 6187===
"This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq5449>{{ cite web
|author=RefSeq
|title=POU1F1 POU class 1 homeobox 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/5449
|accessdate=2024-06-20 }}</ref>


===Gene ID: 6232===
===Gene ID: 5478===


"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."<ref name=RefSeq6232>{{ cite web
"This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported."<ref name=RefSeq5478>{{ cite web
|author=RefSeq
|author=RefSeq
|title=RPS27 ribosomal protein S27 [ Homo sapiens ]
|title=PPIA peptidylprolyl isomerase A [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2018
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6232
|url=http://www.ncbi.nlm.nih.gov/gene/5478
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATATAA) from -29 to -23 nts from the TSS.<ref name=Jin/>
|accessdate=2024-07-06 }}</ref>


===Gene ID: 6279===
===Gene ID: 5514===


"The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq6279>{{ cite web
"This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene."<ref name=RefSeq5514>{{ cite web
|author=RefSeq
|author=RefSeq
|title=S100A8 S100 calcium binding protein A8 [ Homo sapiens ]
|title=PPP1R10 protein phosphatase 1 regulatory subunit 10 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=January 2016
|date=July 2012
|url=http://www.ncbi.nlm.nih.gov/gene/6279
|url=http://www.ncbi.nlm.nih.gov/gene/5514
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAAA) from -30 to -24 nts from the TSS, Code score: 1.00; Matrix score: 0.93.<ref name=Jin/>
|accessdate=2024-07-06 }}</ref>
 
===Gene ID: 5553===
{{main|TATA box proteoglycan family}}


===Gene ID: 6280===
===Gene ID: 5610===


===Gene ID: 6288===
"The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses."<ref name=RefSeq5610>{{ cite web
|author=RefSeq
|title=EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2021
|url=http://www.ncbi.nlm.nih.gov/gene/5610
|accessdate=2024-07-07 }}</ref>


===Gene ID: 6289===
===Gene ID: 5617===


===Gene ID: 6349===
"This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein."<ref name=RefSeq5617>{{ cite web
|author=RefSeq
|title=PRL prolactin [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=August 2011
|url=http://www.ncbi.nlm.nih.gov/gene/5617
|accessdate=2024-07-07 }}</ref>


===Gene ID: 6351===
===Gene ID: 5645===
{{main|TATA box serine protease family}}


===Gene ID: 6352===
===Gene ID: 5650===
{{main|TATA box serine protease family}}


===Gene ID: 6354===
===Gene ID: 5741===


===Gene ID: 6356===
"This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants."<ref name=RefSeq5741>{{ cite web
|author=RefSeq
|title=PTH parathyroid hormone [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2015
|url=http://www.ncbi.nlm.nih.gov/gene/5741
|accessdate=2024-07-07 }}</ref>


===Gene ID: 6357===
===Gene ID: 5743===


===Gene ID: 6364===
"Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis."<ref name=RefSeq5743>{{ cite web
 
===Gene ID: 6376===
 
===Gene ID: 6414===
 
===Gene ID: 6427===
 
===Gene ID: 6428===
 
===Gene ID: 6435===
 
===Gene ID: 6436===
 
===Gene ID: 6446===
 
===Gene ID: 6500===
 
===Gene ID: 6513===
 
===Gene ID: 6518===
 
"The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption."<ref name=RefSeq6518>{{ cite web
|author=RefSeq
|author=RefSeq
|title=SLC2A5 solute carrier family 2 member 5 [ Homo sapiens ]
|title=PTGS2 prostaglandin-endoperoxide synthase 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=June 2016
|date=February 2009
|url=http://www.ncbi.nlm.nih.gov/gene/6518
|url=http://www.ncbi.nlm.nih.gov/gene/5743
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAAA) from -33 to -27 nts from the TSS, Code score: 1.00; Matrix score: 0.92.<ref name=Jin/>
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAA) from -31 to -25 nts from the TSS.<ref name=Jin/>


===Gene ID: 6519===
"[T]he human ... prostaglandin-endoperoxide-synthase-2 [gene contains] a canonical TATA box (nucleotide residues at positions -31 to -25 for the human gene)."<ref name=Kosaka>{{ cite journal
|author=Tetsuya Kosaka, Atsuro Miyata, Hayato Ihara, Shuntaro Hara, Tamiko Sugimoto, Osamu Takeda, Ei-ichi Takahashi, Tadashi Tanabe
|title=Characterization of the human gene (PTGS2) encoding prostaglandin‐endoperoxide synthase 2
|journal=European Journal of Biochemistry
|date=May 1994
|volume=221
|issue=3
|pages=889-97
|url=http://onlinelibrary.wiley.com/doi/10.1111/j.1432-1033.1994.tb18804.x/full
|arxiv=
|bibcode=
|doi=10.1111/j.1432-1033.1994.tb18804.x
|pmid=
|accessdate=2012-12-26 }}</ref> This is Gene ID: 5743.


===Gene ID: 6548===
===Gene ID: 5744===


"This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth."<ref name=RefSeq6548>{{ cite web
"The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone."<ref name=RefSeq5744>{{ cite web
|author=RefSeq
|author=RefSeq
|title=SLC9A1 solute carrier family 9 member A1 [ Homo sapiens ]
|title=PTHLH parathyroid hormone like hormone [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=September 2011
|date=November 2013
|url=http://www.ncbi.nlm.nih.gov/gene/6548
|url=http://www.ncbi.nlm.nih.gov/gene/5744
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAGT) from -32 to -26 nts from the TSS, Code score: 0.91; Matrix score: 0.84.<ref name=Jin/>
|accessdate=2024-07-07 }}</ref>
 
===Gene ID: 5950===
{{main|TATA box lipocalin family}}


===Gene ID: 6559===
===Gene ID: 5956===
{{main|TATA box opsin family}}


===Gene ID: 6566===
===Gene ID: 5967===


"The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene."<ref name=RefSeq6566>{{ cite web
"This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication."<ref name=RefSeq5967>{{ cite web
|author=RefSeq
|author=RefSeq
|title=SLC16A1 solute carrier family 16 member 1 [ Homo sapiens ]
|title=REG1A regenerating family member 1 alpha [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2009
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6566
|url=http://www.ncbi.nlm.nih.gov/gene/5967
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAGG) from -31 to -25 nts from the TSS, Code score: 0.91; Matrix score: 0.78.<ref name=Jin/>
|accessdate=2024-07-07 }}</ref>


===Gene ID: 6624===
===Gene ID: 5996===


===Gene ID: 6647===
"This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal."<ref name=RefSeq5996>{{ cite web
 
|author=RefSeq
===Gene ID: 6698===
|title=RGS1 regulator of G protein signaling 1 [ Homo sapiens ]
 
"A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope."<ref name=AllianceofGenomeResources6698>{{ cite web
|author=Alliance of Genome Resources
|title=SPRR1A small proline rich protein 1A [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=April 2022
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6698
|url=http://www.ncbi.nlm.nih.gov/gene/5996
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAAAG) from -30 to -23 nts from the TSS, Code score: 1.00; Matrix score: 0.91.<ref name=Jin/>
|accessdate=2024-06-10 }}</ref> It has a TATA box (TATAAAG) from -28 to -22 nts from the TSS.<ref name=Jin/>


===Gene ID: 6707===
===Gene ID: 5997===


===Gene ID: 6781===
"Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis."<ref name=RefSeq5997>{{ cite web
|author=RefSeq
|title=RGS2 regulator of G protein signaling 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=August 2009
|url=http://www.ncbi.nlm.nih.gov/gene/5997
|accessdate=2024-06-11 }}</ref> It has a TATA box (CATAAAT) from -28 to -22 nts from the TSS.<ref name=Jin/>


===Gene ID: 6783===
===Gene ID: 6046===


===Gene ID: 6870===
"This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene."<ref name=RefSeq6046>{{ cite web
|author=RefSeq
|title=BRD2 bromodomain containing 2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=December 2010
|url=http://www.ncbi.nlm.nih.gov/gene/6046
|accessdate=2024-07-07 }}</ref>


===Gene ID: 6906===
===Gene ID: 6121===


===Gene ID: 6916===
"The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital."<ref name=RefSeq6121>{{ cite web
|author=RefSeq
|title=RPE65 retinoid isomerohydrolase RPE65 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=October 2017
|url=http://www.ncbi.nlm.nih.gov/gene/6121
|accessdate=2024-06-11 }}</ref> It has a TATA box (CATAAAA) from -27 to -21 nts from the TSS.<ref name=Jin/>


===Gene ID: 6988===
===Gene ID: 6175===


===Gene ID: 7031===
"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."<ref name=RefSeq6175>{{ cite web
|author=RefSeq
|title=RPLP0 ribosomal protein lateral stalk subunit P0 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6175
|accessdate=2024-07-07 }}</ref>


===Gene ID: 7032===
===Gene ID: 6187===


===Gene ID: 7037===
"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."<ref name=RefSeq6187>{{ cite web
|author=RefSeq
|title=RPS2 ribosomal protein S2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6187
|accessdate=2024-07-07 }}</ref>


===Gene ID: 7038===
===Gene ID: 6224===


===Gene ID: 7042===
"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene."<ref name=RefSeq6224>{{ cite web
|author=RefSeq
|title=RPS20 ribosomal protein S20 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=April 2009
|url=http://www.ncbi.nlm.nih.gov/gene/6224
|accessdate=2024-07-07 }}</ref>


===Gene ID: 7043===
===Gene ID: 6232===


===Gene ID: 7056===
"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."<ref name=RefSeq6232>{{ cite web
|author=RefSeq
|title=RPS27 ribosomal protein S27 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2018
|url=http://www.ncbi.nlm.nih.gov/gene/6232
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATATAA) from -29 to -23 nts from the TSS.<ref name=Jin/>


===Gene ID: 7124===
===Gene ID: 6279===


===Gene ID: 7252===
"The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq6279>{{ cite web
|author=RefSeq
|title=S100A8 S100 calcium binding protein A8 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=January 2016
|url=http://www.ncbi.nlm.nih.gov/gene/6279
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAAA) from -30 to -24 nts from the TSS, Code score: 1.00; Matrix score: 0.93.<ref name=Jin/>


===Gene ID: 7262===
===Gene ID: 6280===


===Gene ID: 7276===
"The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity."<ref name=RefSeq6280>{{ cite web
|author=RefSeq
|title=S100A9 S100 calcium binding protein A9 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=November 2014
|url=http://www.ncbi.nlm.nih.gov/gene/6280
|accessdate=2024-07-08 }}</ref>


===Gene ID: 7280===
===Gene ID: 6288===


===Gene ID: 7295===
"This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11."<ref name=RefSeq6288>{{ cite web
|author=RefSeq
|title=SAA1 serum amyloid A1 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=November 2014
|url=http://www.ncbi.nlm.nih.gov/gene/6288
|accessdate=2024-07-08 }}</ref>


===Gene ID: 7306===
===Gene ID: 6289===


===Gene ID: 7432===
"This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against ''S. aureus'' and ''E. coli'' resides in the N-terminal portion of the mature protein."<ref name=RefSeq6289>{{ cite web
|author=RefSeq
|title=SAA2 serum amyloid A2 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2020
|url=http://www.ncbi.nlm.nih.gov/gene/6289
|accessdate=2024-07-08 }}</ref>


===Gene ID: 7803===
===Gene ID: 6349===
{{main|TATA box cytokine superfamily}}


===Gene ID: 7850===
===Gene ID: 6351===


===Gene ID: 7852===
"The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions."<ref name=RefSeq6351>{{ cite web
|author=RefSeq
|title=CCL4 C-C motif chemokine ligand 4 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=December 2012
|url=http://www.ncbi.nlm.nih.gov/gene/6351
|accessdate=2024-07-08 }}</ref>


===Gene ID: 8000===
===Gene ID: 6352===
{{main|TATA box cytokine superfamily}}


===Gene ID: 8288===
===Gene ID: 6354===


===Gene ID: 8339===
"This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q."<ref name=RefSeq6354>{{ cite web
|author=RefSeq
|title=CCL7 C-C motif chemokine ligand 7 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6354
|accessdate=2024-07-08 }}</ref>


===Gene ID: 8431===
===Gene ID: 6356===


===Gene ID: 8564===
"This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections."<ref name=RefSeq6356>{{ cite web
|author=RefSeq
|title=CCL11 C-C motif chemokine ligand 11 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=September 2014
|url=http://www.ncbi.nlm.nih.gov/gene/6356
|accessdate=2024-07-08 }}</ref>


===Gene ID: 8832===
===Gene ID: 6357===
{{main|TATA box cytokine superfamily}}


===Gene ID: 8942===
===Gene ID: 6364===
{{main|TATA box cytokine superfamily}}


===Gene ID: 8969===
===Gene ID: 6376===


===Gene ID: 8970===
"This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections."<ref name=RefSeq6376>{{ cite web
|author=RefSeq
|title=CX3CL1 C-X3-C motif chemokine ligand 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2017
|url=http://www.ncbi.nlm.nih.gov/gene/6376
|accessdate=2024-07-09 }}</ref>


===Gene ID: 8991===
===Gene ID: 6414===


===Gene ID: 9001===
"This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene."<ref name=RefSeq6414>{{ cite web
|author=RefSeq
|title=SELENOP selenoprotein P [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2018
|url=http://www.ncbi.nlm.nih.gov/gene/6414
|accessdate=2024-07-09 }}</ref>


===Gene ID: 9510===
===Gene ID: 6427===


===Gene ID: 9518===
"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11."<ref name=RefSeq6427>{{ cite web
|author=RefSeq
|title=SRSF2 serine and arginine rich splicing factor 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2010
|url=http://www.ncbi.nlm.nih.gov/gene/6427
|accessdate=2024-07-09 }}</ref>


===Gene ID: 9607===
===Gene ID: 6428===


===Gene ID: 9643===
"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene."<ref name=RefSeq6428>{{ cite web
|author=RefSeq
|title=SRSF3 serine and arginine rich splicing factor 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2010
|url=http://www.ncbi.nlm.nih.gov/gene/6428
|accessdate=2024-07-09 }}</ref>


===Gene ID: 9709===
===Gene ID: 6432===


===Gene ID: 9768===
"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq6432>{{ cite web
|author=RefSeq
|title=SRSF7 serine and arginine rich splicing factor 7 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=May 2018
|url=http://www.ncbi.nlm.nih.gov/gene/6432
|accessdate=2024-07-09 }}</ref>


===Gene ID: 10057===
===Gene ID: 6435===


===Gene ID: 10215===
See [[TATA box human genes#Gene ID: 653509|Gene ID: 653509]]


===Gene ID: 10284===
===Gene ID: 6436===


===Gene ID: 10350===
"See also 1 discontinued or replaced items."<ref name=RefSeq6436>{{ cite web
|author=RefSeq
|title=SFTPA2B surfactant protein A2B [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=28 August 2009
|url=http://www.ncbi.nlm.nih.gov/gene/6436
|accessdate=2024-07-09 }}</ref> "This record has been withdrawn by the HUGO Gene Nomenclature Committee (HGNC), and it has been determined that the sequence is redundant with SFTPA2 ([[TATA box human genes#Gene ID: 729238|GeneID:729238]]) in the GRCh37.1 reference assembly."<ref name=RefSeq6436/> "Note: There are four SFTPA genes on chromosome 10. The SFTPA1/SFTPA2 pair are centromeric to a SFTPA1B/SFTPA2B pair. In June, 2007, the names of locations were altered to match the locations published in PubMed 15164054 . [14 Jun 2007]"<ref name=RefSeq6436/>


===Gene ID: 10397===
===Gene ID: 6446===


===Gene ID: 10458===
"This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene."<ref name=RefSeq6446>{{ cite web
|author=RefSeq
|title=SGK1 serum/glucocorticoid regulated kinase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2009
|url=http://www.ncbi.nlm.nih.gov/gene/6446
|accessdate=2024-07-09 }}</ref>


===Gene ID: 10482===
===Gene ID: 6500===


===Gene ID: 10563===
"This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7."<ref name=RefSeq6500>{{ cite web
|author=RefSeq
|title=SKP1 S-phase kinase associated protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6500
|accessdate=2024-07-09 }}</ref>


===Gene ID: 10631===
===Gene ID: 6513===
{{main|TATA box solute carrier family}}


===Gene ID: 10761===
===Gene ID: 6518===
{{main|TATA box solute carrier family}}


===Gene ID: 10930===
===Gene ID: 6519===
{{main|TATA box solute carrier family}}


===Gene ID: 10938===
===Gene ID: 6548===
{{main|TATA box solute carrier family}}


===Gene ID: 11067===
===Gene ID: 6559===
{{main|TATA box solute carrier family}}


===Gene ID: 11081===
===Gene ID: 6566===
{{main|TATA box solute carrier family}}


===Gene ID: 11082===
===Gene ID: 6624===


===Gene ID: 11169===
"This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15."<ref name=RefSeq6624>{{ cite web
|author=RefSeq
|title=FSCN1 fascin actin-bundling protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2011
|url=http://www.ncbi.nlm.nih.gov/gene/6624
|accessdate=2024-07-09 }}</ref>


===Gene ID: 22928===
===Gene ID: 6647===


===Gene ID: 22943===
"The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene."<ref name=RefSeq6647>{{ cite web
|author=RefSeq
|title=SOD1 superoxide dismutase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2020
|url=http://www.ncbi.nlm.nih.gov/gene/6647
|accessdate=2024-07-10 }}</ref>


===Gene ID: 23645===
===Gene ID: 6698===


===Gene ID: 25928===
"A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope."<ref name=AllianceofGenomeResources6698>{{ cite web
|author=Alliance of Genome Resources
|title=SPRR1A small proline rich protein 1A [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/6698
|accessdate=2024-06-11 }}</ref> It has a TATA box (TATAAAAG) from -30 to -23 nts from the TSS, Code score: 1.00; Matrix score: 0.91.<ref name=Jin/>


===Gene ID: 26827===
===Gene ID: 6707===


RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ] is also known as U6 or U6-1.<ref name=HGNC26827>{{ cite web
"Predicted to enable structural molecule activity. Predicted to be involved in wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm."<ref name=AllianceofGenomeResources6707>{{ cite web
|author=HGNC:10227
|author=Alliance of Genome Resources
|title=RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ]
|title=SPRR3 small proline rich protein 3 [ Homo sapiens ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|publisher=ncbi.nlm.nih
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|location=Bethsda, Maryland, USA
|date=May 13, 2024
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/26827
|url=http://www.ncbi.nlm.nih.gov/gene/6707
|accessdate=2024-06-08 }}</ref> In the flanking region 5' to the gene[U6], there is a Hogness box sequence TATAAAT beginning at position -31 which is boxed in ...."<ref name=Ohshima>{{ cite journal
|accessdate=2024-07-10 }}</ref>
|author=Y Ohshima, N Okada, T Tani, Y Itoh, and M Itoh
|title=Nucleotide sequences of mouse genomic loci including a gene or pseudogene for U6 (4.8S) nuclear RNA
|journal=Nucleic Acids Research
|date=10 October 1981
|volume=9
|issue=19
|pages=5145-5158
|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC327505/
|arxiv=
|bibcode=
|doi=10.1093/nar/9.19.5145
|pmid=6171774
|accessdate=2024-06-08 }}</ref>


===Gene ID: 26576===
===Gene ID: 6781===


===Gene ID: 26827===
"This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers."<ref name=RefSeq6781>{{ cite web
|author=RefSeq
|title=STC1 stanniocalcin 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6781
|accessdate=2024-07-10 }}</ref>


===Gene ID: 27106===
===Gene ID: 6783===


===Gene ID: 27129===
"Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors."<ref name=RefSeq6783>{{ cite web
|author=RefSeq
|title=SULT1E1 sulfotransferase family 1E member 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6783
|accessdate=2024-07-10 }}</ref>


===Gene ID: 27316===
===Gene ID: 6870===


===Gene ID: 50943===
"This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B."<ref name=RefSeq6870>{{ cite web
|author=RefSeq
|title=TACR3 tachykinin receptor 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/6870
|accessdate=2024-07-10 }}</ref>


===Gene ID: 51050===
===Gene ID: 6906===


===Gene ID: 51129===
"There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined."<ref name=RefSeq6906>{{ cite web
|author=RefSeq
|title=SERPINA7 serpin family A member 7 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2012
|url=http://www.ncbi.nlm.nih.gov/gene/6906
|accessdate=2024-07-04 }}</ref>


===Gene ID: 51155===
===Gene ID: 6916===
{{main|TATA box cytochrome superfamily}}


===Gene ID: 51203===
===Gene ID: 6988===


===Gene ID: 51297===
"Involved in negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be integral component of membrane."<ref name=AllianceofGenomeResources6988>{{ cite web
|author=Alliance of Genome Resources
|title=TCTA T cell leukemia translocation altered [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/6988
|accessdate=2024-07-10 }}</ref>


===Gene ID: 51313===
===Gene ID: 7021===


===Gene ID: 51582===
"This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives."<ref name=RefSeq7021>{{ cite web
|author=RefSeq
|title=TFAP2B transcription factor AP-2 beta [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/7021
|accessdate=2024-07-05 }}</ref>


===Gene ID: 54106===
===Gene ID: 7031===
{{main|TATA box trefoil family}}


===Gene ID: 55118===
===Gene ID: 7032===
{{main|TATA box trefoil family}}


===Gene ID: 55504===
===Gene ID: 7033===
{{main|TATA box trefoil family}}


===Gene ID: 55603===
===Gene ID: 7037===


===Gene ID: 56642===
"This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified."<ref name=RefSeq7037>{{ cite web
|author=RefSeq
|title=TFRC transferrin receptor [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2015
|url=http://www.ncbi.nlm.nih.gov/gene/7037
|accessdate=2024-07-05 }}</ref>


===Gene ID: 56675===
===Gene ID: 7038===


===Gene ID: 56829===
"Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis."<ref name=RefSeq7038>{{ cite web
|author=RefSeq
|title=TG thyroglobulin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2009
|url=http://www.ncbi.nlm.nih.gov/gene/7038
|accessdate=2024-07-10 }}</ref>


===Gene ID: 56895===
===Gene ID: 7042===
{{main|TATA box transforming growth factor superfamily}}


===Gene ID: 56987===
===Gene ID: 7043===
{{main|TATA box transforming growth factor superfamily}}


===Gene ID: 57126===
===Gene ID: 7056===


===Gene ID: 57152===
"The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia."<ref name=RefSeq7056>{{ cite web
|author=RefSeq
|title=THBD thrombomodulin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/7056
|accessdate=2024-07-10 }}</ref>


===Gene ID: 57579===
===Gene ID: 7124===
{{main|TATA box tumor necrosis factor superfamily}}


===Gene ID: 57626===
===Gene ID: 7167===


===Gene ID: 57823===
"This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants."<ref name=RefSeq7167>{{ cite web
|author=RefSeq
|title=TPI1 triosephosphate isomerase 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2009
|url=http://www.ncbi.nlm.nih.gov/gene/7167
|accessdate=2024-07-10 }}</ref>


===Gene ID: 64111===
===Gene ID: 7252===
{{main|TATA box glycoprotein hormone beta chain family}}


===Gene ID: 80177===
===Gene ID: 7262===


===Gene ID: 80740===
"This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver."<ref name=RefSeq7262>{{ cite web
|author=RefSeq
|title=PHLDA2 pleckstrin homology like domain family A member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2010
|url=http://www.ncbi.nlm.nih.gov/gene/7262
|accessdate=2024-07-10 }}</ref>


===Gene ID: 81285===
===Gene ID: 7276===


===Gene ID: 81606===
"This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome."<ref name=RefSeq7276>{{ cite web
|author=RefSeq
|title=PHLDA2 pleckstrin homology like domain family A member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/7276
|accessdate=2024-07-10 }}</ref>


===Gene ID: 83638===
===Gene ID: 7280===


===Gene ID: 83998===
"This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome."<ref name=RefSeq7280>{{ cite web
|author=RefSeq
|title=TTR transthyretin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/7280
|accessdate=2024-07-10 }}</ref>


===Gene ID: 84107===
===Gene ID: 7295===


===Gene ID: 84223===
"The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq7295>{{ cite web
|author=RefSeq
|title=TXN thioredoxin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2011
|url=http://www.ncbi.nlm.nih.gov/gene/7295
|accessdate=2024-07-10 }}</ref>


===Gene ID: 85235===
===Gene ID: 7306===
 
===Gene ID: 92736===
 
===Gene ID: 114899===


===Gene ID: 115265===
"This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III."<ref name=RefSeq7306>{{ cite web
 
===Gene ID: 116842===
 
===Gene ID: 117156===
 
===Gene ID: 126364===
 
===Gene ID: 130120===
 
"This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms."<ref name=RefSeq130120>{{ cite web
|author=RefSeq
|author=RefSeq
|title=REG3G regenerating family member 3 gamma [ Homo sapiens ]
|title=TYRP1 tyrosinase related protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=November 2014
|date=March 2009
|url=http://www.ncbi.nlm.nih.gov/gene/130120
|url=http://www.ncbi.nlm.nih.gov/gene/7306
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-07-10 }}</ref>


===Gene ID: 145957===
===Gene ID: 7316===


"The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342])."<ref name=OMIM145957>{{ cite web
"This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways."<ref name=RefSeq7316>{{ cite web
|author=OMIM
|author=RefSeq
|title=NRG4 neuregulin 4 [ Homo sapiens ]
|title=UBC ubiquitin C [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=March 2008
|date=August 2010
|url=http://www.ncbi.nlm.nih.gov/gene/145957
|url=http://www.ncbi.nlm.nih.gov/gene/7316
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-07-10 }}</ref>


===Gene ID: 147183===
===Gene ID: 7369===


"This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21."<ref name=RefSeq147183>{{ cite web
"The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants."<ref name=RefSeq7369>{{ cite web
|author=RefSeq
|author=RefSeq
|title=KRT25 keratin 25 [ Homo sapiens ]
|title=UMOD uromodulin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=July 2009
|date=July 2013
|url=http://www.ncbi.nlm.nih.gov/gene/147183
|url=http://www.ncbi.nlm.nih.gov/gene/7369
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-07-10 }}</ref>


===Gene ID: 153020===
===Gene ID: 7432===
{{main|TATA box glucagon family}}
 
===Gene ID: 7803===


"Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. Predicted to be located in early endosome; late endosome; and midbody."<ref name=AllianceofGenomeResources153020>{{ cite web
"This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X."<ref name=RefSeq7803>{{ cite web
|author=Alliance of Genome Resources
|author=RefSeq
|title=RASGEF1B RasGEF domain family member 1B [ Homo sapiens ]
|title=PTP4A1 protein tyrosine phosphatase 4A1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=April 2020
|date=June 2013
|url=http://www.ncbi.nlm.nih.gov/gene/153020
|url=http://www.ncbi.nlm.nih.gov/gene/7803
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-06-20 }}</ref>


===Gene ID: 200504===
===Gene ID: 7850===


"The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa."<ref name=RefSeq200504>{{ cite web
"The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage."<ref name=RefSeq7850>{{ cite web
|author=RefSeq
|author=RefSeq
|title=GKN2 gastrokine 2 [ Homo sapiens ]
|title=IL1R2 interleukin 1 receptor type 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=December 2015
|date=May 2012
|url=http://www.ncbi.nlm.nih.gov/gene/200504
|url=http://www.ncbi.nlm.nih.gov/gene/7850
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-06-20 }}</ref>


===Gene ID: 200539===
===Gene ID: 7852===


"This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation."<ref name=RefSeq200539>{{ cite web
"This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized."<ref name=RefSeq7852>{{ cite web
|author=RefSeq
|author=RefSeq
|title=ANKRD23 ankyrin repeat domain 23 [ Homo sapiens ]
|title=CXCR4 C-X-C motif chemokine receptor 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=July 2008
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/200539
|url=http://www.ncbi.nlm.nih.gov/gene/7852
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-07-10 }}</ref>


===Gene ID: 342574===
===Gene ID: 8000===


"This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21."<ref name=RefSeq342574>{{ cite web
"This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants."<ref name=RefSeq8000>{{ cite web
|author=RefSeq
|author=RefSeq
|title=KRT27 keratin 27 [ Homo sapiens ]
|title=PSCA prostate stem cell antigen [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=July 2009
|date=February 2010
|url=http://www.ncbi.nlm.nih.gov/gene/342574
|url=http://www.ncbi.nlm.nih.gov/gene/8000
|accessdate=2024-06-18 }}</ref>
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 8288===
{{main|TATA box peroxidase family}}


===Gene ID: 729230===
===Gene ID: 8339===
{{main|TATA box histone family}}


"The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3."<ref name=RefSeq729230>{{ cite web
===Gene ID: 8431===
{{main|TATA box nuclear hormone receptor family}}
 
===Gene ID: 8483===
{{main|TATA box immunoglobulin like domain containing family}}
 
===Gene ID: 8490===
 
"This locus represents naturally occurring readthrough transcription between the neighboring LOC127814295 (uncharacterized LOC127814295) and RGS5 (regulator of G-protein signaling 5) genes on chromosome 1. Some variants of the readthrough transcript encode novel proteins with unique N-termini."<ref name=RefSeq8490>{{ cite web
|author=RefSeq
|author=RefSeq
|title=CCR2 C-C motif chemokine receptor 2 [ Homo sapiens ]
|title=RGS5 regulator of G protein signaling 5 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2022
|url=http://www.ncbi.nlm.nih.gov/gene/8490
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 8513===
{{main|TATA box lipase family}}
 
===Gene ID: 8564===
 
"This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease."<ref name=RefSeq8564>{{ cite web
|author=RefSeq
|title=KMO kynurenine 3-monooxygenase [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2011
|url=http://www.ncbi.nlm.nih.gov/gene/8564
|accessdate=2024-07-06 }}</ref>
 
===Gene ID: 8832===
 
"This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants."<ref name=RefSeq8832>{{ cite web
|author=RefSeq
|title=CD84 CD84 molecule [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2011
|url=http://www.ncbi.nlm.nih.gov/gene/8832
|accessdate=2024-07-06 }}</ref> Also known as SLAMF5.<ref name=RefSeq8832/> This gene has a TATA box within its core promoter at -12 "TATAAAA" -6 and also contains an INR- and MTE-.<ref name=Jin/>
 
This gene and A1BG are in the HGNC gene group (Immunoglobulin like domain containing) of the Immunoglobulin superfamily domain containing.<ref name=HGNC594>{{ cite web
|author=HGNC
|title=CD84 CD84 molecule [ Homo sapiens ]
|publisher=genenames.org
|location=Farmington, Connecticut, USA
|date=2024
|url=https://www.genenames.org/data/genegroup/#!/group/594
|accessdate=2024-07-31 }}</ref>
 
===Gene ID: 8942===
 
"Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants."<ref name=RefSeq8942>{{ cite web
|author=RefSeq
|title=KYNU kynureninase [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|location=Bethsda, Maryland, USA
|date=August 2017
|date=November 2010
|url=http://www.ncbi.nlm.nih.gov/gene/729230
|url=http://www.ncbi.nlm.nih.gov/gene/8942
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 8969===
{{main|TATA box histone family}}
 
===Gene ID: 8970===
{{main|TATA box histone family}}
 
===Gene ID: 8991===
{{main|TATA box selenium-binding family}}
 
===Gene ID: 9001===
 
"Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene."<ref name=RefSeq9001>{{ cite web
|author=RefSeq
|title=HAP1 huntingtin associated protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/9001
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 9421===
{{main|TATA box basic helix-loop-helix family}}
 
===Gene ID: 9510===
{{main|TATA box metalloproteinase family}}
 
===Gene ID: 9518===
{{main|TATA box transforming growth factor superfamily}}
 
===Gene ID: 9607===
 
"This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans."<ref name=RefSeq9607>{{ cite web
|author=RefSeq
|title=CARTPT CART prepropeptide [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=February 2016
|url=http://www.ncbi.nlm.nih.gov/gene/9607
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 9643===
 
"Predicted to be involved in heterochromatin assembly and histone modification. Predicted to act upstream of or within positive regulation of striated muscle cell differentiation and positive regulation of transcription by RNA polymerase II. Located in nucleolus; nucleoplasm; and plasma membrane."<ref name=AllianceofGenomeResources9643>{{ cite web
|author=Alliance of Genome Resources
|title=MORF4L2 mortality factor 4 like 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/9643
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 9709===
 
"The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined."<ref name=RefSeq9709>{{ cite web
|author=RefSeq
|title=HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2013
|url=http://www.ncbi.nlm.nih.gov/gene/9709
|accessdate=2024-07-10 }}</ref>
 
===Gene ID: 9768===
 
"Enables chromatin binding activity. Involved in several processes, including cellular macromolecule biosynthetic process; centrosome cycle; and response to UV. Located in centrosome; nucleus; and perinuclear region of cytoplasm."<ref name=AllianceofGenomeResources9768>{{ cite web
|author=Alliance of Genome Resources
|title=PCLAF PCNA clamp associated factor [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/9768
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 9921===
 
"The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known."<ref name=RefSeq9921>{{ cite web
|author=RefSeq
|title=RNF10 ring finger protein 10 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/9921
|accessdate=2024-07-11 }}</ref>
 
===Gene ID: 10057===
{{main|TATA box ATP-binding cassette transporter superfamily}}
 
===Gene ID: 10215===
{{main|TATA box basic helix-loop-helix family}}
 
===Gene ID: 10284===
 
"Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2."<ref name=RefSeq10284>{{ cite web
|author=RefSeq
|title=SAP18 Sin3A associated protein 18 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2008
|url=http://www.ncbi.nlm.nih.gov/gene/10284
|accessdate=2024-07-11 }}</ref>
 
===Gene ID: 10350===
{{main|TATA box ATP-binding cassette transporter superfamily}}
 
===Gene ID: 10397===
{{main|TATA box hydrolase family}}
 
===Gene ID: 10458===
 
"The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms."<ref name=RefSeq10458>{{ cite web
|author=RefSeq
|title=BAIAP2 BAR/IMD domain containing adaptor protein 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2009
|url=http://www.ncbi.nlm.nih.gov/gene/10458
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 10482===
 
"This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants."<ref name=RefSeq10482>{{ cite web
|author=RefSeq
|title=NXF1 nuclear RNA export factor 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/10482
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 10563===
 
"B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles."<ref name=RefSeq10563>{{ cite web
|author=RefSeq
|title=CXCL13 C-X-C motif chemokine ligand 13 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2014
|url=http://www.ncbi.nlm.nih.gov/gene/10563
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 10631===
 
"This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms."<ref name=RefSeq10631>{{ cite web
|author=RefSeq
|title=POSTN periostin [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2015
|url=http://www.ncbi.nlm.nih.gov/gene/10631
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 10761===
 
"Involved in placenta development. Predicted to be located in extracellular region."<ref name=AllianceofGenomeResources10761>{{ cite web
|author=Alliance of Genome Resources
|title=PLAC1 placenta enriched 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/10761
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 10769===
 
"The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq10769>{{ cite web
|author=RefSeq
|title=PLK2 polo like kinase 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2011
|url=http://www.ncbi.nlm.nih.gov/gene/10769
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 10912===
 
"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta."<ref name=RefSeq10912>{{ cite web
|author=RefSeq
|title=GADD45G growth arrest and DNA damage inducible gamma [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/10912
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 10930===
 
"Enables cytidine deaminase activity and identical protein binding activity. Involved in DNA demethylation. Acts upstream of or within cytidine to uridine editing. Predicted to be active in cytoplasm and nucleus."<ref name=AllianceofGenomeResources10930>{{ cite web
|author=Alliance of Genome Resources
|title=APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/10930
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 10938===
 
"This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene."<ref name=RefSeq10938>{{ cite web
|author=RefSeq
|title=EHD1 EH domain containing 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2013
|url=http://www.ncbi.nlm.nih.gov/gene/10938
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 11009===
{{main|TATA box cytokine superfamily}}
 
===Gene ID: 11067===
 
"The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1."<ref name=RefSeq11067>{{ cite web
|author=RefSeq
|title=DEPP1 DEPP autophagy regulator 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/11067
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 11081===
{{main|TATA box proteoglycan family}}
 
===Gene ID: 11082===
 
"This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq11082>{{ cite web
|author=RefSeq
|title=ESM1 endothelial cell specific molecule 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/11082
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 11169===
 
"The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms."<ref name=RefSeq11169>{{ cite web
|author=RefSeq
|title=WDHD1 WD repeat and HMG-box DNA binding protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=October 2008
|url=http://www.ncbi.nlm.nih.gov/gene/11169
|accessdate=2024-07-13 }}</ref>
 
===Gene ID: 22928===
 
"This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5."<ref name=RefSeq22928>{{ cite web
|author=RefSeq
|title=SEPHS2 selenophosphate synthetase 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=May 2017
|url=http://www.ncbi.nlm.nih.gov/gene/22928
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 22943===
 
"This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines."<ref name=RefSeq22943>{{ cite web
|author=RefSeq
|title=DKK1 dickkopf WNT signaling pathway inhibitor 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2017
|url=http://www.ncbi.nlm.nih.gov/gene/22943
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 23450===
 
"This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair."<ref name=RefSeq23450>{{ cite web
|author=RefSeq
|title=SF3B3 splicing factor 3b subunit 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/23450
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 23645===
 
"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation."<ref name=RefSeq23645>{{ cite web
|author=RefSeq
|title=PPP1R15A protein phosphatase 1 regulatory subunit 15A [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/23645
|accessdate=2024-07-02 }}</ref>
 
===Gene ID: 25928===
 
"This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death."<ref name=RefSeq25928>{{ cite web
|author=RefSeq
|title=SOSTDC1 sclerostin domain containing 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/25928
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 26287===
 
"This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms."<ref name=RefSeq26287>{{ cite web
|author=RefSeq
|title=ANKRD2 ankyrin repeat domain 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2014
|url=http://www.ncbi.nlm.nih.gov/gene/26287
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 26576===
 
"This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene."<ref name=RefSeq26576>{{ cite web
|author=RefSeq
|title=SRPK3 SRSF protein kinase 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2009
|url=http://www.ncbi.nlm.nih.gov/gene/26576
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 26827===
 
RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ] is also known as U6 or U6-1.<ref name=HGNC26827>{{ cite web
|author=HGNC:10227
|title=RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ]
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine
|location=8600 Rockville Pike, Bethesda MD, 20894 USA
|date=May 13, 2024
|url=http://www.ncbi.nlm.nih.gov/gene/26827
|accessdate=2024-06-08 }}</ref> In the flanking region 5' to the gene[U6], there is a Hogness box sequence TATAAAT beginning at position -31 which is boxed in ...."<ref name=Ohshima>{{ cite journal
|author=Y Ohshima, N Okada, T Tani, Y Itoh, and M Itoh
|title=Nucleotide sequences of mouse genomic loci including a gene or pseudogene for U6 (4.8S) nuclear RNA
|journal=Nucleic Acids Research
|date=10 October 1981
|volume=9
|issue=19
|pages=5145-5158
|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC327505/
|arxiv=
|bibcode=
|doi=10.1093/nar/9.19.5145
|pmid=6171774
|accessdate=2024-06-08 }}</ref>
 
===Gene ID: 27063===
 
"The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system."<ref name=RefSeq27063>{{ cite web
|author=RefSeq
|title=ANKRD1 ankyrin repeat domain 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/27063
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 27106===
 
"Predicted to be involved in protein transport. Located in cytoplasmic vesicle and plasma membrane."<ref name=AllianceofGenomeResources27106>{{ cite web
|author=Alliance of Genome Resources
|title=ARRDC2 arrestin domain containing 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/27106
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 27129===
{{main|TATA box heat shock family}}
 
===Gene ID: 27159===
 
"The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene."<ref name=RefSeq27159>{{ cite web
|author=RefSeq
|title=CHIA chitinase acidic [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2012
|url=http://www.ncbi.nlm.nih.gov/gene/27159
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 27316===
 
"This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns."<ref name=RefSeq27316>{{ cite web
|author=RefSeq
|title=RBMX RNA binding motif protein X-linked [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/27316
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 50943===
{{main|TATA box forkhead family}}
 
===Gene ID: 51050===
 
"This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system."<ref name=RefSeq51050>{{ cite web
|author=RefSeq
|title=PI15 peptidase inhibitor 15 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/51050
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 51129===
 
"This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4."<ref name=RefSeq51129>{{ cite web
|author=RefSeq
|title=ANGPTL4 angiopoietin like 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2013
|url=http://www.ncbi.nlm.nih.gov/gene/51129
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 51155===
 
"Located in nuclear membrane; nucleolus; and nucleoplasm."<ref name=AllianceofGenomeResources51155>{{ cite web
|author=Alliance of Genome Resources
|title=JPT1 Jupiter microtubule associated homolog 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/51155
|accessdate=2024-07-01 }}</ref>
 
===Gene ID: 51203===
 
"NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707])."<ref name=OMIM51203>{{ cite web
|author=RefSeq
|title=NUSAP1 nucleolar and spindle associated protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2009
|url=http://www.ncbi.nlm.nih.gov/gene/51203
|accessdate=2024-06-30 }}</ref>
 
===Gene ID: 51278===
{{main|TATA box early response family}}
 
===Gene ID: 51297===
 
"This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known."<ref name=RefSeq51297>{{ cite web
|author=RefSeq
|title=BPIFA1 BPI fold containing family A member 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2014
|url=http://www.ncbi.nlm.nih.gov/gene/51297
|accessdate=2024-06-30 }}</ref>
 
===Gene ID: 51313===
 
"Located in Golgi apparatus."<ref name=AllianceofGenomeResources51313>{{ cite web
|author=Alliance of Genome Resources
|title=GASK1B golgi associated kinase 1B [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/51313
|accessdate=2024-06-30 }}</ref>
 
===Gene ID: 51582===
 
"The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene."<ref name=RefSeq51582>{{ cite web
|author=RefSeq
|title=AZIN1 antizyme inhibitor 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2014
|url=http://www.ncbi.nlm.nih.gov/gene/51582
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 51738===
 
"This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression."<ref name=RefSeq51738>{{ cite web
|author=RefSeq
|title=GHRL ghrelin and obestatin prepropeptide [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=November 2014
|url=http://www.ncbi.nlm.nih.gov/gene/51738
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 54106===
 
"The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response."<ref name=RefSeq54106>{{ cite web
|author=RefSeq
|title=TLR9 toll like receptor 9 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/54106
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 54567===
 
"This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain."<ref name=RefSeq54567>{{ cite web
|author=RefSeq
|title=DLL4 delta like canonical Notch ligand 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/54567
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 55118===
 
"This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants."<ref name=RefSeq55118>{{ cite web
|author=RefSeq
|title=CRTAC1 cartilage acidic protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2011
|url=http://www.ncbi.nlm.nih.gov/gene/55118
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 55504===
 
"The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described."<ref name=RefSeq55504>{{ cite web
|author=RefSeq
|title=TNFRSF19 TNF receptor superfamily member 19 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/55504
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 55603===
 
"Enables RNA binding activity. Predicted to be involved in mRNA stabilization. Predicted to act upstream of or within response to bacterium. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18."<ref name=AllianceofGenomeResources55603>{{ cite web
|author=Alliance of Genome Resources
|title=TENT5A terminal nucleotidyltransferase 5A [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/55603
|accessdate=2024-06-29 }}</ref>
 
===Gene ID: 56675===
 
"Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis."<ref name=AllianceofGenomeResources56675>{{ cite web
|author=Alliance of Genome Resources
|title=NRIP3 nuclear receptor interacting protein 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/56675
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 56829===
 
"This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses, including Ebola virus, HIV and SARS-CoV-2 (which causes COVID-19)."<ref name=RefSeq56829>{{ cite web
|author=RefSeq
|title=ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2021
|url=http://www.ncbi.nlm.nih.gov/gene/56829
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 56895===
 
"This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis."<ref name=RefSeq56895>{{ cite web
|author=RefSeq
|title=AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/56895
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 56987===
 
"Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone development. Located in cytosol and nucleoplasm."<ref name=RefSeq56987>{{ cite web
|author=RefSeq
|title=BBX BBX high mobility group box domain containing [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/56987
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 57126===
 
"This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified."<ref name=RefSeq57126>{{ cite web
|author=RefSeq
|title=CD177 CD177 molecule [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2014
|url=http://www.ncbi.nlm.nih.gov/gene/57126
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 57152===
 
"The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors."<ref name=RefSeq57152>{{ cite web
|author=RefSeq
|title=SLURP1 secreted LY6/PLAUR domain containing 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/57152
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 57579===
 
"Predicted to be involved in cellular lipid metabolic process."<ref name=AllianceofGenomeResources57579>{{ cite web
|author=Alliance of Genome Resources
|title=FAM135A family with sequence similarity 135 member A [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/57579
|accessdate=2024-06-26 }}</ref>
 
===Gene ID: 57626===
{{main|TATA box Kelch-like family}}
 
===Gene ID: 57823===
 
"Enables identical protein binding activity. Predicted to be involved in adaptive immune response. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum."<ref name=AllianceofGenomeResources57823>{{ cite web
|author=Alliance of Genome Resources
|title=SLAMF7 SLAM family member 7 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/57823
|accessdate=2024-06-24 }}</ref> Official Full Name: SLAM family member 7.<ref name=AllianceofGenomeResources57823/>
 
===Gene ID: 64111===
 
"Predicted to enable signaling receptor binding activity. Involved in negative regulation of gonadotropin secretion. Predicted to be located in extracellular region."<ref name=AllianceofGenomeResources64111>{{ cite web
|author=Alliance of Genome Resources
|title=NPVF neuropeptide VF precursor [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/64111
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 65108===
 
"This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10."<ref name=RefSeq65108>{{ cite web
|author=RefSeq
|title=MARCKSL1 MARCKS like 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2012
|url=http://www.ncbi.nlm.nih.gov/gene/65108
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 79733===
 
"This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified."<ref name=RefSeq79733>{{ cite web
|author=RefSeq
|title=E2F8 E2F transcription factor 8 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=January 2012
|url=http://www.ncbi.nlm.nih.gov/gene/79733
|accessdate=2024-06-24 }}</ref>
 
===Gene ID: 80177===
 
"Predicted to act upstream of or within hematopoietic stem cell homeostasis. Located in nucleoplasm."<ref name=AllianceofGenomeResources80177>{{ cite web
|author=Alliance of Genome Resources
|title=MYCT1 MYC target 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/80177
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 80740===
 
"LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290])."<ref name=OMIM80740>{{ cite web
|author=OMIM
|title=LY6G6C lymphocyte antigen 6 family member G6C [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2008
|url=http://www.ncbi.nlm.nih.gov/gene/80740
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 81285===
 
"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms."<ref name=RefSeq81285>{{ cite web
|author=RefSeq
|title=OR51E2 olfactory receptor family 51 subfamily E member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/81285
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 81606===
 
"Involved in negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex."<ref name=AllianceofGenomeResources81606>{{ cite web
|author=Alliance of Genome Resources
|title=LBH LBH regulator of WNT signaling pathway [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/81606
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 83638===
 
"Enables RNA binding activity."<ref name=AllianceofGenomeResources83638>{{ cite web
|author=Alliance of Genome Resources
|title=C11orf68 chromosome 11 open reading frame 68 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/83638
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 83998===
 
"Enables heparin binding activity and mannan binding activity. Predicted to act upstream of or within response to bacterium. Located in cytoplasm."<ref name=AllianceofGenomeResources83998>{{ cite web
|author=Alliance of Genome Resources
|title=REG4 regenerating family member 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/83998
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 84107===
 
"This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene."<ref name=RefSeq84107>{{ cite web
|author=RefSeq
|title=ZIC4 Zic family member 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2009
|url=http://www.ncbi.nlm.nih.gov/gene/84107
|accessdate=2024-06-20 }}</ref>
 
===Gene ID: 84223===
 
"Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytoplasm."<ref name=AllianceofGenomeResources84223>{{ cite web
|author=Alliance of Genome Resources
|title=IQCG IQ motif containing G [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/84223
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 84328===
 
"Predicted to enable beta-catenin binding activity. Predicted to be involved in response to ionizing radiation."<ref name=AllianceofGenomeResources84328>{{ cite web
|author=Alliance of Genome Resources
|title=LZIC leucine zipper and CTNNBIP1 domain containing [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/84328
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 84419===
 
"This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified."<ref name=RefSeq84419>{{ cite web
|author=RefSeq
|title=C15orf48 chromosome 15 open reading frame 48 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=June 2012
|url=http://www.ncbi.nlm.nih.gov/gene/84419
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 84790===
 
"Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule cytoskeleton and nucleus."<ref name=AllianceofGenomeResources84790>{{ cite web
|author=Alliance of Genome Resources
|title=TUBA1C tubulin alpha 1c [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/84790
|accessdate=2024-06-23 }}</ref>
 
===Gene ID: 84889===
{{main|TATA box solute carrier family}}
 
===Gene ID: 85235===
{{main|TATA box histone family}}
 
===Gene ID: 92736===
 
"Predicted to enable proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane."<ref name=RefSeq92736>{{ cite web
|author=RefSeq
|title=OTOP2 otopetrin 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/92736
|accessdate=2024-06-22 }}</ref>
 
===Gene ID: 114899===
 
"Enables identical protein binding activity. Involved in several processes, including cellular triglyceride homeostasis; negative regulation of NIK/NF-kappaB signaling; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane."<ref name=AllianceofGenomeResources114899>{{ cite web
|author=Alliance of Genome Resources
|title=C1QTNF3 C1q and TNF related 3 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/114899
|accessdate=2024-06-22 }}</ref>
 
===Gene ID: 115265===
 
"Predicted to be involved in negative regulation of signal transduction. Predicted to be located in cytoplasm."<ref name=AllianceofGenomeResources115265>{{ cite web
|author=Alliance of Genome Resources
|title=DDIT4L DNA damage inducible transcript 4 like [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/115265
|accessdate=2024-06-22 }}</ref>
 
===Gene ID: 116842===
 
"This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts."<ref name=RefSeq116842>{{ cite web
|author=RefSeq
|title=LEAP2 liver enriched antimicrobial peptide 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2014
|url=http://www.ncbi.nlm.nih.gov/gene/116842
|accessdate=2024-06-22 }}</ref>
 
===Gene ID: 117156===
 
"The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma."<ref name=RefSeq117156>{{ cite web
|author=RefSeq
|title=Scgb3a2 secretoglobin, family 3A, member 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2010
|url=http://www.ncbi.nlm.nih.gov/gene/117156
|accessdate=2024-06-21 }}</ref>
 
===Gene ID: 117158===
{{main|TATA box secretoglobin family}}
 
===Gene ID: 126364===
 
"Predicted to be located in cytoplasm. Predicted to be integral component of membrane."<ref name=RefSeq126364>{{ cite web
|author=RefSeq
|title=LRRC25 leucine rich repeat containing 25 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/126364
|accessdate=2024-06-21 }}</ref>
 
===Gene ID: 126393===
{{main|TATA box heat shock family}}
 
===Gene ID: 130120===
{{main|TATA box lectins superfamily}}
 
===Gene ID: 131377===
{{main|TATA box Kelch-like family}}
 
===Gene ID: 145957===
 
"The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342])."<ref name=OMIM145957>{{ cite web
|author=OMIM
|title=NRG4 neuregulin 4 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=March 2008
|url=http://www.ncbi.nlm.nih.gov/gene/145957
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 147183===
{{main|TATA box keratin family}}
 
===Gene ID: 153020===
{{main|TATA box RasGEF domain family}}
 
===Gene ID: 200504===
 
"The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa."<ref name=RefSeq200504>{{ cite web
|author=RefSeq
|title=GKN2 gastrokine 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=December 2015
|url=http://www.ncbi.nlm.nih.gov/gene/200504
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 200539===
 
"This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation."<ref name=RefSeq200539>{{ cite web
|author=RefSeq
|title=ANKRD23 ankyrin repeat domain 23 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=July 2008
|url=http://www.ncbi.nlm.nih.gov/gene/200539
|accessdate=2024-06-18 }}</ref>
 
===Gene ID: 342574===
{{main|TATA box keratin family}}
 
===Gene ID: 389125===
 
"Predicted to be involved in several processes, including chondrocyte differentiation; chondrocyte proliferation; and embryonic limb morphogenesis. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule metabolic process. Predicted to be located in nucleoplasm."<ref name=AllianceofGenomeResources389125>{{ cite web
|author=Alliance of Genome Resources
|title=MUSTN1 musculoskeletal, embryonic nuclear protein 1 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=April 2022
|url=http://www.ncbi.nlm.nih.gov/gene/389125
|accessdate=2024-06-21 }}</ref>
 
===Gene ID: 653509===
{{main|TATA box lectins superfamily}}
 
===Gene ID: 729230===
 
"The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3."<ref name=RefSeq729230>{{ cite web
|author=RefSeq
|title=CCR2 C-C motif chemokine receptor 2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=August 2017
|url=http://www.ncbi.nlm.nih.gov/gene/729230
|accessdate=2024-06-18 }}</ref> This Gene ID replaces Gene ID: 1231.
|accessdate=2024-06-18 }}</ref> This Gene ID replaces Gene ID: 1231.
===Gene ID: 729238===
"This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication."<ref name=RefSeq729238>{{ cite web
|author=RefSeq
|title=SFTPA2 surfactant protein A2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=September 2009
|url=http://www.ncbi.nlm.nih.gov/gene/729238
|accessdate=2024-07-09 }}</ref>
"Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly."<ref name=RefSeq729238AI>{{ cite web
|author=RefSeq
|title=SFTPA2 surfactant protein A2 [ Homo sapiens ]
|publisher=ncbi.nlm.nih
|location=Bethsda, Maryland, USA
|date=13 February 2013
|url=http://www.ncbi.nlm.nih.gov/gene/729238
|accessdate=2024-07-09 }}</ref>
==Families of TATA box genes==
{{main|Families of TATA box genes}}


==Acknowledgements==
==Acknowledgements==

Latest revision as of 21:36, 1 August 2024

The TATA box (also called Goldberg-Hogness box)[1] is a DNA sequence (cis-regulatory element) found in the promoter region of genes in archaea and eukaryotes;[2] approximately 24% of human genes contain a TATA box within the core promoter.[3]

Human genes

"TATA-containing genes are more often highly regulated, such as by biotic or stress stimuli."[4] Only "∼10% of these TATA-containing promoters have the canonical TATA box (TATAWAWR)."[4]

"SRF-regulated genes of the actin/cytoskeleton/contractile family tend to have a TATA box."[5]

Different "TATA box sequences have different abilities to convey the activating signals of certain enhancers and activators in mammalian cells [...] and in yeast [...]."[5]

"SRF is a well established master regulator of the specific family of genes encoding the actin cytoskeleton and contractile apparatus [...], and we found that ~40% of the core promoters for these genes contain a TATA box, which is a significant enrichment compared to the low overall frequency of TATA-containing promoters in human and mouse genomes (...)."[5] "Global frequencies of core promoter types for human [9010 orthologous mouse-human promoter pairs with 1848 TATA-containing or 7162 TATA-less][6] genes with experimentally validated transcription start sites [are known from 2006]."[5] "The TATA box [...] has a consensus sequence of TATAWAAR [...]."[5] W = A or T and R = A or G. We "estimate that ~17% of promoters contain a TATA box".[6]

Gene ID: 2

"The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified."[7]

Gene ID: 19

Gene ID: 58

Gene ID: 60

Gene ID: 70

Gene ID: 133

"The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration."[8]

Gene ID: 173

Gene ID: 174

"This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly."[9]

Gene ID: 183

Gene ID: 185

"Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants."[10]

Gene ID: 203

"This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene."[11]

Gene ID: 229

Gene ID: 230

Gene ID: 249

Gene ID: 262

"This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y."[12]

Gene ID: 265

Gene ID: 279

Gene ID: 280

Gene ID: 292

Gene ID: 301

Gene ID: 302

Gene ID: 314

"Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants."[13]

Gene ID: 336

"This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia."[14] It has a TATA box (TATATAG) from -28 to -22 nts from the TSS.[6]

Gene ID: 338

"This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels."[15]

Gene ID: 345

"This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11."[16]

Gene ID: 358

Gene ID: 359

Gene ID: 360

Gene ID: 374

Gene ID: 383

"Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene."[17]

Gene ID: 390

Gene ID: 467

Gene ID: 468

Gene ID: 481

Gene ID: 482

Gene ID: 496

Gene ID: 515

"This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel."[18] ATP5PB aka ATP5F1.[18] It has a TATA box (TTTAAAA) from -34 to -28 nts from the TSS.[6]

Gene ID: 604

"The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene."[19]

Gene ID: 676

"BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene."[20] It has a TATA box (TATAAAA) from -31 to -25 nts from the TSS.[6]

Gene ID: 677

Gene ID: 694

Gene ID: 759

Gene ID: 760

Gene ID: 762

Gene ID: 767

Gene ID: 794

Gene ID: 811

"Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type."[21]

Gene ID: 846

"The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia."[22]

Gene ID: 919

"The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene."[23] It has a TATA box (AATAAAA) from -31 to -25 nts from the TSS.[6]

Gene ID: 1044

Gene ID: 1051

"This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions."[24]

Gene ID: 1081

Gene ID: 1101

"Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages."[25]

Gene ID: 1116

Gene ID: 1152

Gene ID: 1153

"Enables mRNA 3'-UTR binding activity and small ribosomal subunit rRNA binding activity. Involved in mRNA stabilization; positive regulation of translation; and response to UV. Located in cytoplasm and nucleoplasm."[26]

Gene ID: 1158

Gene ID: 1160

Gene ID: 1180

Gene ID: 1188

Gene ID: 1191

"The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants."[27]

Gene ID: 1215

Gene ID: 1277

"This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene."[28]

Gene ID: 1278

"This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene."[29]

Gene ID: 1356

"The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene."[30]

Gene ID: 1382

Gene ID: 1392

Gene ID: 1393

Gene ID: 1401

Gene ID: 1410

Gene ID: 1411

Gene ID: 1427

Gene ID: 1440

Gene ID: 1490

Gene ID: 1543

Gene ID: 1544

Gene ID: 1548

Gene ID: 1553

Gene ID: 1571

Gene ID: 1576

Gene ID: 1581

Gene ID: 1602

"Nine elements were tested, representing a sampling of elements present in the two gene deserts and DACH introns, spread over a 1530-kb region surrounding the human DACH's TATA box."[31]

Gene ID: 1602 is the human gene DACH1 dachshund homolog 1 also known as DACH.[32] DACH1 has three isoforms: a, b, c, and d.[33]

"This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis."[33]

Gene ID: 1655

Gene ID: 1728

Gene ID: 1735

Gene ID: 1805

"Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin."[34] It has a TATA box (TATAAAA) from -26 to -20 nts from the TSS.[6]

Gene ID: 1811

Gene ID: 1831

"This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor κB. Alternate splicing results in multiple transcript variants."[35]

Gene ID: 1833

Gene ID: 1893

"This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene."[36]

Gene ID: 1906

Gene ID: 1915

"This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes."[37]

Gene ID: 1938

Gene ID: 1961

"Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of chromatin."[38]

Gene ID: 1974

"Enables ATP hydrolysis activity. Involved in negative regulation of RNA-directed 5'-3' RNA polymerase activity. Located in perinuclear region of cytoplasm."[39]

Gene ID: 1990

Gene ID: 1999

"Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in inflammatory response; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; cytosol; and nucleoplasm." It has a TATA box (TATAAAG) from -31 to -25 nts from the TSS.[6]

Gene ID: 2168

Gene ID: 2206

Gene ID: 2244

"The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency."[40]

Gene ID: 2250

Gene ID: 2321

Gene ID: 2353

Gene ID: 2494

Gene ID: 2538

"Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys."[41]

Gene ID: 2542

Gene ID: 2597

Gene ID: 2641

"The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon."[42]

Gene ID: 2652

Gene ID: 2669

Gene ID: 2688

Gene ID: 2752

Gene ID: 2780

"Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones."[43] It has a TATA box (TATAAAG) from -30 to -23 nts from the TSS.[6]

Gene ID: 2814

"Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133])."[44]

Gene ID: 2922

Gene ID: 2947

"Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants."[45]

Gene ID: 2980

"Predicted to enable guanylate cyclase activator activity. Predicted to be involved in positive regulation of guanylate cyclase activity and signal transduction. Predicted to be located in extracellular region."[46] It has a TATA box (TTTAAAA) from -33 to -27 nts from the TSS.[6]

Gene ID: 2981

"Predicted to enable guanylate cyclase activator activity. Predicted to be involved in positive regulation of guanylate cyclase activity and signal transduction. Predicted to be located in extracellular region."[47] It has a TATA box (TATAAGG) from -30 to -24 nts from the TSS.[6]

Gene ID: 3006

Gene ID: 3008

Gene ID: 3009

Gene ID: 3010

Gene ID: 3015

Gene ID: 3050

"Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'."[48]

Gene ID: 3133

"HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail."[49]

Gene ID: 3158

Gene ID: 3164

Gene ID: 3171

Gene ID: 3182

Gene ID: 3206

Gene ID: 3222

Gene ID: 3232

Gene ID: 3273

"This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels."[50]

Gene ID: 3280

Gene ID: 3283

"The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids."[51] It has a TATA box (CATAAAG) from -30 to -24 nts from the TSS.[6]

Gene ID: 3284

Gene ID: 3304

Gene ID: 3308

Gene ID: 3309

Gene ID: 3320

Gene ID: 3371

"This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration."[52]

Gene ID: 3375

Gene ID: 3383

Gene ID: 3397

Gene ID: 3458

Gene ID: 3487

Gene ID: 3491

"The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation."[53] It has a TATA box (TATAAAA) from -30 to -24 nts from the TSS.[6]

Gene ID: 3558

Gene ID: 3565

Gene ID: 3593

Gene ID: 3596

Gene ID: 3605

Gene ID: 3624

Gene ID: 3630

Gene ID: 3640

Gene ID: 3662

Gene ID: 3708

"This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene."[54]

Gene ID: 3726

"Enables sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor AP-1 complex. Biomarker of Hodgkin's lymphoma and anaplastic large cell lymphoma."[55]

Gene ID: 3758

"Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene."[56]

Gene ID: 3848

Gene ID: 3858

Gene ID: 3859

Gene ID: 3860

Gene ID: 3861

Gene ID: 3872

Gene ID: 3906

"This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells."[57]

Gene ID: 3918

Gene ID: 3938

Gene ID: 3976

Gene ID: 3977

Gene ID: 3995

Gene ID: 4014

"This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases."[58] It has a TATA box (TATATATAA) from -40 to -32 nts from the TSS.[6]

Gene ID: 4025

Gene ID: 4049

Gene ID: 4144

"The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes."[59]

Gene ID: 4222

Gene ID: 4225

"Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine."[60]

Gene ID: 4254

"This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene."[61]

Gene ID: 4256

Gene ID: 4284

Gene ID: 4316

Gene ID: 4319

Gene ID: 4321

Gene ID: 4322

Gene ID: 4327

Gene ID: 4357

"This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene."[62]

Gene ID: 4435

Gene ID: 4501

Gene ID: 4504

Gene ID: 4582

Gene ID: 4609

"This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini."[63]

Gene ID: 4616

"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth."[64]

Gene ID: 4618

Gene ID: 4624

"Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3."[65]

Gene ID: 4629

"The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4."[66]

Gene ID: 4632

Gene ID: 4638

"This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts."[67]

Gene ID: 4653

"MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma."[68] It has a TATA box (TATATATAAAC) from -31 to -21 nts from the TSS.[6]

Gene ID: 4741

"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms."[69]

Gene ID: 4744

"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene."[70]

Gene ID: 4747

"Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y."[71]

Gene ID: 4842

"The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene."[72]

Gene ID: 4843

"Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17."[73]

Gene ID: 4856

"The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development."[74]

Gene ID: 4869

"The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified."[75]

Gene ID: 4878

"The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1."[76] It has a TATA box (TATAAAAAG) from -30 to -22 nts from the TSS.[6]

Gene ID: 4922

"This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active."[77]

Gene ID: 4946

"The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene."[78]

Gene ID: 4982

"The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined."[79]

Gene ID: 5004

"This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression."[80]

Gene ID: 5005

"This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression."[81]

Gene ID: 5016

"This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions."[82] It has a TATA box (TATAAAG) from -25 to -19 nts from the TSS.[6]

Gene ID: 5033

"This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described."[83]

Gene ID: 5034

"This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex."[84]

Gene ID: 5052

"This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene."[85] It has a TATA box (TATAAAG) from -31 to -25 nts from the TSS.[6]

Gene ID: 5054

Gene ID: 5055

Gene ID: 5068

Gene ID: 5069

Gene ID: 5079

"This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms."[86]

Gene ID: 5132

"This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified."[87] It has a TATA box (TTTAAAT) from -32 to -26 nts from the TSS.[6]

Gene ID: 5155

Gene ID: 5224

"Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase efficiency, also known as glycogen storage disease X."[88]

Gene ID: 5225

Gene ID: 5275

Gene ID: 5360

"The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene."[89]

Gene ID: 5406

Gene ID: 5408

Gene ID: 5443

"This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described."[90]

Gene ID: 5449

"This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene."[91]

Gene ID: 5478

"This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported."[92]

Gene ID: 5514

"This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene."[93]

Gene ID: 5553

Gene ID: 5610

"The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses."[94]

Gene ID: 5617

"This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein."[95]

Gene ID: 5645

Gene ID: 5650

Gene ID: 5741

"This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants."[96]

Gene ID: 5743

"Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis."[97] It has a TATA box (TATAAAA) from -31 to -25 nts from the TSS.[6]

"[T]he human ... prostaglandin-endoperoxide-synthase-2 [gene contains] a canonical TATA box (nucleotide residues at positions -31 to -25 for the human gene)."[98] This is Gene ID: 5743.

Gene ID: 5744

"The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone."[99]

Gene ID: 5950

Gene ID: 5956

Gene ID: 5967

"This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication."[100]

Gene ID: 5996

"This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal."[101] It has a TATA box (TATAAAG) from -28 to -22 nts from the TSS.[6]

Gene ID: 5997

"Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis."[102] It has a TATA box (CATAAAT) from -28 to -22 nts from the TSS.[6]

Gene ID: 6046

"This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene."[103]

Gene ID: 6121

"The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital."[104] It has a TATA box (CATAAAA) from -27 to -21 nts from the TSS.[6]

Gene ID: 6175

"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."[105]

Gene ID: 6187

"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."[106]

Gene ID: 6224

"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene."[107]

Gene ID: 6232

"Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome."[108] It has a TATA box (TATATAA) from -29 to -23 nts from the TSS.[6]

Gene ID: 6279

"The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene."[109] It has a TATA box (TATAAAA) from -30 to -24 nts from the TSS, Code score: 1.00; Matrix score: 0.93.[6]

Gene ID: 6280

"The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity."[110]

Gene ID: 6288

"This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11."[111]

Gene ID: 6289

"This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein."[112]

Gene ID: 6349

Gene ID: 6351

"The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions."[113]

Gene ID: 6352

Gene ID: 6354

"This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q."[114]

Gene ID: 6356

"This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections."[115]

Gene ID: 6357

Gene ID: 6364

Gene ID: 6376

"This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections."[116]

Gene ID: 6414

"This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene."[117]

Gene ID: 6427

"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11."[118]

Gene ID: 6428

"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene."[119]

Gene ID: 6432

"The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene."[120]

Gene ID: 6435

See Gene ID: 653509

Gene ID: 6436

"See also 1 discontinued or replaced items."[121] "This record has been withdrawn by the HUGO Gene Nomenclature Committee (HGNC), and it has been determined that the sequence is redundant with SFTPA2 (GeneID:729238) in the GRCh37.1 reference assembly."[121] "Note: There are four SFTPA genes on chromosome 10. The SFTPA1/SFTPA2 pair are centromeric to a SFTPA1B/SFTPA2B pair. In June, 2007, the names of locations were altered to match the locations published in PubMed 15164054 . [14 Jun 2007]"[121]

Gene ID: 6446

"This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene."[122]

Gene ID: 6500

"This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7."[123]

Gene ID: 6513

Gene ID: 6518

Gene ID: 6519

Gene ID: 6548

Gene ID: 6559

Gene ID: 6566

Gene ID: 6624

"This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15."[124]

Gene ID: 6647

"The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene."[125]

Gene ID: 6698

"A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope."[126] It has a TATA box (TATAAAAG) from -30 to -23 nts from the TSS, Code score: 1.00; Matrix score: 0.91.[6]

Gene ID: 6707

"Predicted to enable structural molecule activity. Predicted to be involved in wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm."[127]

Gene ID: 6781

"This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers."[128]

Gene ID: 6783

"Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors."[129]

Gene ID: 6870

"This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B."[130]

Gene ID: 6906

"There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined."[131]

Gene ID: 6916

Gene ID: 6988

"Involved in negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be integral component of membrane."[132]

Gene ID: 7021

"This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives."[133]

Gene ID: 7031

Gene ID: 7032

Gene ID: 7033

Gene ID: 7037

"This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified."[134]

Gene ID: 7038

"Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis."[135]

Gene ID: 7042

Gene ID: 7043

Gene ID: 7056

"The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia."[136]

Gene ID: 7124

Gene ID: 7167

"This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants."[137]

Gene ID: 7252

Gene ID: 7262

"This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver."[138]

Gene ID: 7276

"This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome."[139]

Gene ID: 7280

"This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome."[140]

Gene ID: 7295

"The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene."[141]

Gene ID: 7306

"This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III."[142]

Gene ID: 7316

"This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways."[143]

Gene ID: 7369

"The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants."[144]

Gene ID: 7432

Gene ID: 7803

"This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X."[145]

Gene ID: 7850

"The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage."[146]

Gene ID: 7852

"This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized."[147]

Gene ID: 8000

"This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants."[148]

Gene ID: 8288

Gene ID: 8339

Gene ID: 8431

Gene ID: 8483

Gene ID: 8490

"This locus represents naturally occurring readthrough transcription between the neighboring LOC127814295 (uncharacterized LOC127814295) and RGS5 (regulator of G-protein signaling 5) genes on chromosome 1. Some variants of the readthrough transcript encode novel proteins with unique N-termini."[149]

Gene ID: 8513

Gene ID: 8564

"This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease."[150]

Gene ID: 8832

"This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants."[151] Also known as SLAMF5.[151] This gene has a TATA box within its core promoter at -12 "TATAAAA" -6 and also contains an INR- and MTE-.[6]

This gene and A1BG are in the HGNC gene group (Immunoglobulin like domain containing) of the Immunoglobulin superfamily domain containing.[152]

Gene ID: 8942

"Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants."[153]

Gene ID: 8969

Gene ID: 8970

Gene ID: 8991

Gene ID: 9001

"Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene."[154]

Gene ID: 9421

Gene ID: 9510

Gene ID: 9518

Gene ID: 9607

"This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans."[155]

Gene ID: 9643

"Predicted to be involved in heterochromatin assembly and histone modification. Predicted to act upstream of or within positive regulation of striated muscle cell differentiation and positive regulation of transcription by RNA polymerase II. Located in nucleolus; nucleoplasm; and plasma membrane."[156]

Gene ID: 9709

"The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined."[157]

Gene ID: 9768

"Enables chromatin binding activity. Involved in several processes, including cellular macromolecule biosynthetic process; centrosome cycle; and response to UV. Located in centrosome; nucleus; and perinuclear region of cytoplasm."[158]

Gene ID: 9921

"The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known."[159]

Gene ID: 10057

Gene ID: 10215

Gene ID: 10284

"Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2."[160]

Gene ID: 10350

Gene ID: 10397

Gene ID: 10458

"The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms."[161]

Gene ID: 10482

"This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants."[162]

Gene ID: 10563

"B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles."[163]

Gene ID: 10631

"This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms."[164]

Gene ID: 10761

"Involved in placenta development. Predicted to be located in extracellular region."[165]

Gene ID: 10769

"The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene."[166]

Gene ID: 10912

"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta."[167]

Gene ID: 10930

"Enables cytidine deaminase activity and identical protein binding activity. Involved in DNA demethylation. Acts upstream of or within cytidine to uridine editing. Predicted to be active in cytoplasm and nucleus."[168]

Gene ID: 10938

"This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene."[169]

Gene ID: 11009

Gene ID: 11067

"The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1."[170]

Gene ID: 11081

Gene ID: 11082

"This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene."[171]

Gene ID: 11169

"The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms."[172]

Gene ID: 22928

"This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5."[173]

Gene ID: 22943

"This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines."[174]

Gene ID: 23450

"This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair."[175]

Gene ID: 23645

"This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation."[176]

Gene ID: 25928

"This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death."[177]

Gene ID: 26287

"This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms."[178]

Gene ID: 26576

"This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene."[179]

Gene ID: 26827

RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ] is also known as U6 or U6-1.[180] In the flanking region 5' to the gene[U6], there is a Hogness box sequence TATAAAT beginning at position -31 which is boxed in ...."[181]

Gene ID: 27063

"The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system."[182]

Gene ID: 27106

"Predicted to be involved in protein transport. Located in cytoplasmic vesicle and plasma membrane."[183]

Gene ID: 27129

Gene ID: 27159

"The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene."[184]

Gene ID: 27316

"This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns."[185]

Gene ID: 50943

Gene ID: 51050

"This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system."[186]

Gene ID: 51129

"This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4."[187]

Gene ID: 51155

"Located in nuclear membrane; nucleolus; and nucleoplasm."[188]

Gene ID: 51203

"NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707])."[189]

Gene ID: 51278

Gene ID: 51297

"This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known."[190]

Gene ID: 51313

"Located in Golgi apparatus."[191]

Gene ID: 51582

"The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene."[192]

Gene ID: 51738

"This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression."[193]

Gene ID: 54106

"The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response."[194]

Gene ID: 54567

"This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain."[195]

Gene ID: 55118

"This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants."[196]

Gene ID: 55504

"The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described."[197]

Gene ID: 55603

"Enables RNA binding activity. Predicted to be involved in mRNA stabilization. Predicted to act upstream of or within response to bacterium. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18."[198]

Gene ID: 56675

"Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis."[199]

Gene ID: 56829

"This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses, including Ebola virus, HIV and SARS-CoV-2 (which causes COVID-19)."[200]

Gene ID: 56895

"This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis."[201]

Gene ID: 56987

"Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone development. Located in cytosol and nucleoplasm."[202]

Gene ID: 57126

"This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified."[203]

Gene ID: 57152

"The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors."[204]

Gene ID: 57579

"Predicted to be involved in cellular lipid metabolic process."[205]

Gene ID: 57626

Gene ID: 57823

"Enables identical protein binding activity. Predicted to be involved in adaptive immune response. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum."[206] Official Full Name: SLAM family member 7.[206]

Gene ID: 64111

"Predicted to enable signaling receptor binding activity. Involved in negative regulation of gonadotropin secretion. Predicted to be located in extracellular region."[207]

Gene ID: 65108

"This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10."[208]

Gene ID: 79733

"This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified."[209]

Gene ID: 80177

"Predicted to act upstream of or within hematopoietic stem cell homeostasis. Located in nucleoplasm."[210]

Gene ID: 80740

"LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290])."[211]

Gene ID: 81285

"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms."[212]

Gene ID: 81606

"Involved in negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex."[213]

Gene ID: 83638

"Enables RNA binding activity."[214]

Gene ID: 83998

"Enables heparin binding activity and mannan binding activity. Predicted to act upstream of or within response to bacterium. Located in cytoplasm."[215]

Gene ID: 84107

"This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene."[216]

Gene ID: 84223

"Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytoplasm."[217]

Gene ID: 84328

"Predicted to enable beta-catenin binding activity. Predicted to be involved in response to ionizing radiation."[218]

Gene ID: 84419

"This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified."[219]

Gene ID: 84790

"Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule cytoskeleton and nucleus."[220]

Gene ID: 84889

Gene ID: 85235

Gene ID: 92736

"Predicted to enable proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane."[221]

Gene ID: 114899

"Enables identical protein binding activity. Involved in several processes, including cellular triglyceride homeostasis; negative regulation of NIK/NF-kappaB signaling; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane."[222]

Gene ID: 115265

"Predicted to be involved in negative regulation of signal transduction. Predicted to be located in cytoplasm."[223]

Gene ID: 116842

"This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts."[224]

Gene ID: 117156

"The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma."[225]

Gene ID: 117158

Gene ID: 126364

"Predicted to be located in cytoplasm. Predicted to be integral component of membrane."[226]

Gene ID: 126393

Gene ID: 130120

Gene ID: 131377

Gene ID: 145957

"The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342])."[227]

Gene ID: 147183

Gene ID: 153020

Gene ID: 200504

"The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa."[228]

Gene ID: 200539

"This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation."[229]

Gene ID: 342574

Gene ID: 389125

"Predicted to be involved in several processes, including chondrocyte differentiation; chondrocyte proliferation; and embryonic limb morphogenesis. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule metabolic process. Predicted to be located in nucleoplasm."[230]

Gene ID: 653509

Gene ID: 729230

"The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3."[231] This Gene ID replaces Gene ID: 1231.

Gene ID: 729238

"This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication."[232] "Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly."[233]

Families of TATA box genes

Acknowledgements

The content on this page was first contributed by: Henry A. Hoff.

References

  1. R. P. Lifton, M. L. Goldberg, R. W. Karp, and D. S. Hogness (1978). "The organization of the histone genes in Drosophila melanogaster: functional and evolutionary implications". Cold Spring Harbor Symposia on Quantitative Biology. 42: 1047–51. doi:10.1101/SQB.1978.042.01.105. PMID 98262.
  2. Stephen T. Smale and James T. Kadonaga (July 2003). "The RNA Polymerase II Core Promoter" (PDF). Annual Review of Biochemistry. 72 (1): 449–79. doi:10.1146/annurev.biochem.72.121801.161520. PMID 12651739. Retrieved 2012-05-07.
  3. C Yang, E Bolotin, T Jiang, FM Sladek, E Martinez (March 2007). "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA-less core promoters". Gene. 389 (1): 52–65. doi:10.1016/j.gene.2006.09.029. PMID 17123746.
  4. 4.0 4.1 Chuhu Yang, Eugene Bolotin, Tao Jiang, Frances M. Sladek, and Ernest Martinez (10 October 2006). "Prevalence of the Initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA-less core promoters". Gene. 389 (1): 52–65. doi:10.1016/j.gene.2006.09.029. PMID 17123746. Retrieved 2024-06-07.
  5. 5.0 5.1 5.2 5.3 5.4 Muyu Xu, Elsie Gonzalez-Hurtado, and Ernest Martinez (April 2016). "Core promoter-specific gene regulation: TATA box selectivity and Initiator-dependent bi-directionality of serum response factor-activated transcription". Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1859 (4): 553–563. doi:10.1016/j.bbagrm.2016.01.005. Retrieved 2024-06-08.
  6. 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 6.11 6.12 6.13 6.14 6.15 6.16 6.17 6.18 6.19 6.20 6.21 6.22 6.23 6.24 6.25 6.26 Victor X Jin, Gregory AC Singer, Francisco J Agosto-Pérez, Sandya Liyanarachchi, and Ramana V Davuluri (2006). "Genome-wide analysis of core promoter elements from conserved human and mouse orthologous pairs". BMC Bioinformatics. 7: 114. doi:10.1186/1471-2105-7-114. Retrieved 2024-06-09.
  7. RefSeq (November 2016). "A2M alpha-2-macroglobulin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-14.
  8. RefSeq (August 2014). "ADM adrenomedullin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  9. RefSeq (October 2019). "AFP alpha fetoprotein [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  10. RefSeq (August 2020). "AGTR1 angiotensin II receptor type 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  11. RefSeq (January 2022). "AK1 adenylate kinase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  12. RefSeq (December 2013). "AMD1 adenosylmethionine decarboxylase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  13. RefSeq (July 2008). "AOC2 amine oxidase copper containing 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  14. RefSeq (July 2008). "APOA2 apolipoprotein A2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-09.
  15. RefSeq (December 2019). "APOB apolipoprotein B [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  16. RefSeq (September 2017). "APOC3 apolipoprotein C3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  17. RefSeq (September 2011). "ARG1 arginase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  18. 18.0 18.1 RefSeq (July 2008). "ATP5PB ATP synthase peripheral stalk-membrane subunit b [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-09.
  19. RefSeq (August 2015). "BCL6 BCL6 transcription repressor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  20. RefSeq (June 2011). "BRDT bromodomain testis associated [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-09.
  21. RefSeq (May 2020). "CALR calreticulin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  22. RefSeq (August 2017). "CASR calcium sensing receptor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  23. RefSeq (July 2008). "CD247 CD247 molecule [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-09.
  24. RefSeq (October 2013). "CEBPB CCAAT enhancer binding protein beta [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  25. RefSeq (July 2008). "CHAD chondroadherin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  26. Alliance of Genome Resources (April 2022). "CIRBP cold inducible RNA binding protein [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  27. RefSeq (May 2011). "CLU clusterin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  28. RefSeq (February 2008). "COL1A1 collagen type I alpha 1 chain [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  29. RefSeq (February 2008). "COL1A2 collagen type I alpha 2 chain [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  30. RefSeq (February 2012). "CP ceruloplasmin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  31. Marcelo A. Nobrega, Ivan Ovcharenko, Veena Afzal, and Edward M. Rubin (October 2003). "Scanning human gene deserts for long-range enhancers". Science. 302 (5644): 413. doi:10.1126/science.1088328. PMID 14563999. Retrieved 2012-12-26.
  32. Kozmik Z; et al. (July 1999). "Localization of the human homologue of the Drosophila dachshund gene (DACH) to chromosome 13q21". Genomics. Bethsda, Maryland, USA: National Human Genome Research Institute. pp. 110–111. Retrieved 2024-07-01.
  33. 33.0 33.1 RefSeq (September 2009). "DACH1 dachshund family transcription factor 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2012-12-26.
  34. RefSeq (July 2008). "DPT dermatopontin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  35. RefSeq (January 2016). "TSC22D3 TSC22 domain family member 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-19.
  36. RefSeq (February 2011). "ECM1 extracellular matrix protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  37. RefSeq (July 2008). "EEF1A1 eukaryotic translation elongation factor 1 alpha 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  38. Alliance of Genome Resources (April 2022). "EGR4 early growth response 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  39. Alliance of Genome Resources (April 2022). "EIF4A2 eukaryotic translation initiation factor 4A2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-26.
  40. RefSeq (August 2020). "FGB fibrinogen beta chain [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  41. RefSeq (February 2011). "G6PC1 glucose-6-phosphatase catalytic subunit 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-26.
  42. RefSeq (July 2008). "GCG glucagon [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  43. RefSeq (July 2008). "GNAT2 G protein subunit alpha transducin 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  44. OMIM (November 2010). "GP5 glycoprotein V platelet [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  45. RefSeq (November 2008). "GSTM3 glutathione S-transferase mu 3 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-26.
  46. Alliance of Genome Resources (April 2022). "GUCA2A guanylate cyclase activator 2A [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  47. RefSeq (November 2015). "GUCA2B guanylate cyclase activator 2B [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  48. RefSeq (November 2009). "HBZ hemoglobin subunit zeta [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  49. RefSeq (July 2008). "HLA-E major histocompatibility complex, class I, E [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-26.
  50. RefSeq (November 2014). "HRG histidine rich glycoprotein [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-26.
  51. RefSeq (June 2016). "HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  52. RefSeq (July 2011). "TNC tenascin C [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  53. RefSeq (September 2011). "CCN1 cellular communication network factor 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-10.
  54. RefSeq (November 2009). "ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  55. Alliance of Genome Resources (April 2022). "JUNB JunB proto-oncogene, AP-1 transcription factor subunit [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-27.
  56. RefSeq (July 2008). "KCNJ1 potassium inwardly rectifying channel subfamily J member 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-27.
  57. RefSeq (July 2008). "LALBA lactalbumin alpha [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-27.
  58. RefSeq (July 2008). "LORICRIN loricrin cornified envelope precursor protein [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  59. RefSeq (June 2011). "MAT2A methionine adenosyltransferase 2A [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-30.
  60. RefSeq (October 2011). "MEP1B meprin A subunit beta [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-30.
  61. RefSeq (July 2008). "KITLG KIT ligand [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  62. RefSeq (July 2008). "MPST mercaptopyruvate sulfurtransferase [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-27.
  63. RefSeq (August 2017). "MYC MYC proto-oncogene, bHLH transcription factor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  64. RefSeq (July 2008). "GADD45B growth arrest and DNA damage inducible beta [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  65. RefSeq (February 2017). "MYH6 myosin heavy chain 6 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  66. RefSeq (May 2022). "MYH11 myosin heavy chain 11 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  67. RefSeq (July 2008). "MYLK myosin light chain kinase [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  68. RefSeq (July 2008). "MYOC myocilin [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  69. RefSeq (October 2008). "NEFM neurofilament medium chain [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  70. RefSeq (October 2008). "NEFH neurofilament heavy chain [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  71. RefSeq (October 2008). "NEFL neurofilament light chain [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  72. RefSeq (February 2011). "NOS1 nitric oxide synthase 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  73. RefSeq (July 2008). "NOS2 nitric oxide synthase 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  74. RefSeq (February 2009). "CCN3 cellular communication network factor 3 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  75. RefSeq (August 2017). "NPM1 nucleophosmin 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-20.
  76. RefSeq (October 2015). "NPPA natriuretic peptide A [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  77. RefSeq (October 2014). "NTS neurotensin [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  78. RefSeq (December 2014). "OAZ1 ornithine decarboxylase antizyme 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  79. RefSeq (July 2008). "TNFRSF11B TNF receptor superfamily member 11b [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  80. RefSeq (July 2008). "ORM1 orosomucoid 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  81. RefSeq (July 2008). "ORM2 orosomucoid 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-03.
  82. RefSeq (July 2008). "OVGP1 oviductal glycoprotein 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  83. RefSeq (July 2008). "P4HA1 prolyl 4-hydroxylase subunit alpha 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-05.
  84. RefSeq (July 2008). "P4HB prolyl 4-hydroxylase subunit beta [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-04.
  85. RefSeq (January 2011). "PRDX1 peroxiredoxin 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  86. RefSeq (July 2013). "PAX5 paired box 5 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-05.
  87. RefSeq (July 2008). "PDC phosducin [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  88. RefSeq (September 2009). "PGAM2 phosphoglycerate mutase 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-05.
  89. RefSeq (July 2008). "PLTP phospholipid transfer protein [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-05.
  90. RefSeq (January 2016). "POMC proopiomelanocortin [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-06.
  91. RefSeq (July 2008). "POU1F1 POU class 1 homeobox 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  92. RefSeq (July 2008). "PPIA peptidylprolyl isomerase A [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-06.
  93. RefSeq (July 2012). "PPP1R10 protein phosphatase 1 regulatory subunit 10 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-06.
  94. RefSeq (July 2021). "EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  95. RefSeq (August 2011). "PRL prolactin [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  96. RefSeq (October 2015). "PTH parathyroid hormone [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  97. RefSeq (February 2009). "PTGS2 prostaglandin-endoperoxide synthase 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  98. Tetsuya Kosaka, Atsuro Miyata, Hayato Ihara, Shuntaro Hara, Tamiko Sugimoto, Osamu Takeda, Ei-ichi Takahashi, Tadashi Tanabe (May 1994). "Characterization of the human gene (PTGS2) encoding prostaglandin‐endoperoxide synthase 2". European Journal of Biochemistry. 221 (3): 889–97. doi:10.1111/j.1432-1033.1994.tb18804.x. Retrieved 2012-12-26.
  99. RefSeq (November 2013). "PTHLH parathyroid hormone like hormone [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  100. RefSeq (July 2008). "REG1A regenerating family member 1 alpha [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  101. RefSeq (July 2008). "RGS1 regulator of G protein signaling 1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-10.
  102. RefSeq (August 2009). "RGS2 regulator of G protein signaling 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-11.
  103. RefSeq (December 2010). "BRD2 bromodomain containing 2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  104. RefSeq (October 2017). "RPE65 retinoid isomerohydrolase RPE65 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-11.
  105. RefSeq (July 2008). "RPLP0 ribosomal protein lateral stalk subunit P0 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  106. RefSeq (July 2008). "RPS2 ribosomal protein S2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  107. RefSeq (April 2009). "RPS20 ribosomal protein S20 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-07.
  108. RefSeq (July 2018). "RPS27 ribosomal protein S27 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-11.
  109. RefSeq (January 2016). "S100A8 S100 calcium binding protein A8 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-11.
  110. RefSeq (November 2014). "S100A9 S100 calcium binding protein A9 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  111. RefSeq (November 2014). "SAA1 serum amyloid A1 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  112. RefSeq (July 2020). "SAA2 serum amyloid A2 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  113. RefSeq (December 2012). "CCL4 C-C motif chemokine ligand 4 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  114. RefSeq (July 2008). "CCL7 C-C motif chemokine ligand 7 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  115. RefSeq (September 2014). "CCL11 C-C motif chemokine ligand 11 [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-07-08.
  116. RefSeq (September 2017). "CX3CL1 C-X3-C motif chemokine ligand 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  117. RefSeq (October 2018). "SELENOP selenoprotein P [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  118. RefSeq (September 2010). "SRSF2 serine and arginine rich splicing factor 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  119. RefSeq (September 2010). "SRSF3 serine and arginine rich splicing factor 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  120. RefSeq (May 2018). "SRSF7 serine and arginine rich splicing factor 7 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  121. 121.0 121.1 121.2 RefSeq (28 August 2009). "SFTPA2B surfactant protein A2B [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  122. RefSeq (January 2009). "SGK1 serum/glucocorticoid regulated kinase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  123. RefSeq (July 2008). "SKP1 S-phase kinase associated protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  124. RefSeq (September 2011). "FSCN1 fascin actin-bundling protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  125. RefSeq (July 2020). "SOD1 superoxide dismutase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  126. Alliance of Genome Resources (April 2022). "SPRR1A small proline rich protein 1A [ Homo sapiens ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-11.
  127. Alliance of Genome Resources (April 2022). "SPRR3 small proline rich protein 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  128. RefSeq (July 2008). "STC1 stanniocalcin 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  129. RefSeq (July 2008). "SULT1E1 sulfotransferase family 1E member 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  130. RefSeq (July 2008). "TACR3 tachykinin receptor 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  131. RefSeq (June 2012). "SERPINA7 serpin family A member 7 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-04.
  132. Alliance of Genome Resources (April 2022). "TCTA T cell leukemia translocation altered [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  133. RefSeq (July 2008). "TFAP2B transcription factor AP-2 beta [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-05.
  134. RefSeq (September 2015). "TFRC transferrin receptor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-05.
  135. RefSeq (November 2009). "TG thyroglobulin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  136. RefSeq (July 2008). "THBD thrombomodulin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  137. RefSeq (April 2009). "TPI1 triosephosphate isomerase 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  138. RefSeq (October 2010). "PHLDA2 pleckstrin homology like domain family A member 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  139. RefSeq (August 2017). "PHLDA2 pleckstrin homology like domain family A member 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  140. RefSeq (August 2017). "TTR transthyretin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  141. RefSeq (October 2011). "TXN thioredoxin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  142. RefSeq (March 2009). "TYRP1 tyrosinase related protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  143. RefSeq (August 2010). "UBC ubiquitin C [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  144. RefSeq (July 2013). "UMOD uromodulin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  145. RefSeq (June 2013). "PTP4A1 protein tyrosine phosphatase 4A1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  146. RefSeq (May 2012). "IL1R2 interleukin 1 receptor type 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  147. RefSeq (July 2008). "CXCR4 C-X-C motif chemokine receptor 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  148. RefSeq (February 2010). "PSCA prostate stem cell antigen [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  149. RefSeq (November 2022). "RGS5 regulator of G protein signaling 5 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  150. RefSeq (October 2011). "KMO kynurenine 3-monooxygenase [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-06.
  151. 151.0 151.1 RefSeq (October 2011). "CD84 CD84 molecule [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-06.
  152. HGNC (2024). "CD84 CD84 molecule [ Homo sapiens ]". Farmington, Connecticut, USA: genenames.org. Retrieved 2024-07-31.
  153. RefSeq (November 2010). "KYNU kynureninase [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  154. RefSeq (July 2008). "HAP1 huntingtin associated protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  155. RefSeq (February 2016). "CARTPT CART prepropeptide [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  156. Alliance of Genome Resources (April 2022). "MORF4L2 mortality factor 4 like 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  157. RefSeq (January 2013). "HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-10.
  158. Alliance of Genome Resources (April 2022). "PCLAF PCNA clamp associated factor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  159. RefSeq (July 2008). "RNF10 ring finger protein 10 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-11.
  160. RefSeq (December 2008). "SAP18 Sin3A associated protein 18 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-11.
  161. RefSeq (January 2009). "BAIAP2 BAR/IMD domain containing adaptor protein 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  162. RefSeq (July 2008). "NXF1 nuclear RNA export factor 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  163. RefSeq (October 2014). "CXCL13 C-X-C motif chemokine ligand 13 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  164. RefSeq (September 2015). "POSTN periostin [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  165. Alliance of Genome Resources (April 2022). "PLAC1 placenta enriched 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  166. RefSeq (November 2011). "PLK2 polo like kinase 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  167. RefSeq (July 2008). "GADD45G growth arrest and DNA damage inducible gamma [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  168. Alliance of Genome Resources (April 2022). "APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  169. RefSeq (September 2013). "EHD1 EH domain containing 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  170. RefSeq (July 2008). "DEPP1 DEPP autophagy regulator 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  171. RefSeq (October 2008). "ESM1 endothelial cell specific molecule 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  172. RefSeq (October 2008). "WDHD1 WD repeat and HMG-box DNA binding protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-13.
  173. RefSeq (May 2017). "SEPHS2 selenophosphate synthetase 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  174. RefSeq (September 2017). "DKK1 dickkopf WNT signaling pathway inhibitor 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  175. RefSeq (July 2008). "SF3B3 splicing factor 3b subunit 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  176. RefSeq (July 2008). "PPP1R15A protein phosphatase 1 regulatory subunit 15A [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-02.
  177. RefSeq (July 2008). "SOSTDC1 sclerostin domain containing 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  178. RefSeq (March 2014). "ANKRD2 ankyrin repeat domain 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  179. RefSeq (December 2009). "SRPK3 SRSF protein kinase 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  180. HGNC:10227 (May 13, 2024). "RNU6-1 RNA, U6 small nuclear 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2024-06-08.
  181. Y Ohshima, N Okada, T Tani, Y Itoh, and M Itoh (10 October 1981). "Nucleotide sequences of mouse genomic loci including a gene or pseudogene for U6 (4.8S) nuclear RNA". Nucleic Acids Research. 9 (19): 5145–5158. doi:10.1093/nar/9.19.5145. PMID 6171774. Retrieved 2024-06-08.
  182. RefSeq (July 2008). "ANKRD1 ankyrin repeat domain 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  183. Alliance of Genome Resources (April 2022). "ARRDC2 arrestin domain containing 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  184. RefSeq (April 2012). "CHIA chitinase acidic [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  185. RefSeq (September 2009). "RBMX RNA binding motif protein X-linked [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  186. RefSeq (July 2008). "PI15 peptidase inhibitor 15 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  187. RefSeq (September 2013). "ANGPTL4 angiopoietin like 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  188. Alliance of Genome Resources (April 2022). "JPT1 Jupiter microtubule associated homolog 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-01.
  189. RefSeq (June 2009). "NUSAP1 nucleolar and spindle associated protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-30.
  190. RefSeq (August 2014). "BPIFA1 BPI fold containing family A member 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-30.
  191. Alliance of Genome Resources (April 2022). "GASK1B golgi associated kinase 1B [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-30.
  192. RefSeq (September 2014). "AZIN1 antizyme inhibitor 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  193. RefSeq (November 2014). "GHRL ghrelin and obestatin prepropeptide [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  194. RefSeq (August 2017). "TLR9 toll like receptor 9 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  195. RefSeq (July 2008). "DLL4 delta like canonical Notch ligand 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  196. RefSeq (August 2011). "CRTAC1 cartilage acidic protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  197. RefSeq (July 2008). "TNFRSF19 TNF receptor superfamily member 19 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  198. Alliance of Genome Resources (April 2022). "TENT5A terminal nucleotidyltransferase 5A [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-29.
  199. Alliance of Genome Resources (April 2022). "NRIP3 nuclear receptor interacting protein 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  200. RefSeq (September 2021). "ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  201. RefSeq (July 2008). "AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  202. RefSeq (April 2022). "BBX BBX high mobility group box domain containing [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  203. RefSeq (April 2014). "CD177 CD177 molecule [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  204. RefSeq (July 2008). "SLURP1 secreted LY6/PLAUR domain containing 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  205. Alliance of Genome Resources (April 2022). "FAM135A family with sequence similarity 135 member A [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-26.
  206. 206.0 206.1 Alliance of Genome Resources (April 2022). "SLAMF7 SLAM family member 7 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-24.
  207. Alliance of Genome Resources (April 2022). "NPVF neuropeptide VF precursor [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  208. RefSeq (June 2012). "MARCKSL1 MARCKS like 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  209. RefSeq (January 2012). "E2F8 E2F transcription factor 8 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-24.
  210. Alliance of Genome Resources (April 2022). "MYCT1 MYC target 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  211. OMIM (March 2008). "LY6G6C lymphocyte antigen 6 family member G6C [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  212. RefSeq (July 2008). "OR51E2 olfactory receptor family 51 subfamily E member 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  213. Alliance of Genome Resources (April 2022). "LBH LBH regulator of WNT signaling pathway [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  214. Alliance of Genome Resources (April 2022). "C11orf68 chromosome 11 open reading frame 68 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  215. Alliance of Genome Resources (April 2022). "REG4 regenerating family member 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  216. RefSeq (December 2009). "ZIC4 Zic family member 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-20.
  217. Alliance of Genome Resources (April 2022). "IQCG IQ motif containing G [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  218. Alliance of Genome Resources (April 2022). "LZIC leucine zipper and CTNNBIP1 domain containing [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  219. RefSeq (June 2012). "C15orf48 chromosome 15 open reading frame 48 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  220. Alliance of Genome Resources (April 2022). "TUBA1C tubulin alpha 1c [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-23.
  221. RefSeq (April 2022). "OTOP2 otopetrin 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-22.
  222. Alliance of Genome Resources (April 2022). "C1QTNF3 C1q and TNF related 3 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-22.
  223. Alliance of Genome Resources (April 2022). "DDIT4L DNA damage inducible transcript 4 like [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-22.
  224. RefSeq (September 2014). "LEAP2 liver enriched antimicrobial peptide 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-22.
  225. RefSeq (March 2010). "Scgb3a2 secretoglobin, family 3A, member 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-21.
  226. RefSeq (April 2022). "LRRC25 leucine rich repeat containing 25 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-21.
  227. OMIM (March 2008). "NRG4 neuregulin 4 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  228. RefSeq (December 2015). "GKN2 gastrokine 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  229. RefSeq (July 2008). "ANKRD23 ankyrin repeat domain 23 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  230. Alliance of Genome Resources (April 2022). "MUSTN1 musculoskeletal, embryonic nuclear protein 1 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-21.
  231. RefSeq (August 2017). "CCR2 C-C motif chemokine receptor 2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-06-18.
  232. RefSeq (September 2009). "SFTPA2 surfactant protein A2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.
  233. RefSeq (13 February 2013). "SFTPA2 surfactant protein A2 [ Homo sapiens ]". Bethsda, Maryland, USA: ncbi.nlm.nih. Retrieved 2024-07-09.

External links