List of human genes

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This list describes some of the most notable genes present in the human genome.

Note: this does not attempt to be an exhausive list of genes, of which there are tens of thousands for humans alone: this is intended to be a list of genes which are particularly notable in scientific research or in their role in relation to disease, or have featured in a recent significant research paper or news story.

Genes notable for their function

HUGO Symbol Locus Gene product Associated disease Notes Genecard
ALB 4q11-q13 Serum albumin -- The most abundant protein in human blood plasma Template:Genecard
BCL2 18q21.3 Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2 Several cancers The prototype anti-apoptotic protein Template:Genecard
CCR5 3p21 chemokine (C-C motif) receptor 5 -- Has an important role in resistance to infection. Template:Genecard
CD4 12pter-p12 CD4 antigen -- The prototype marker for T helper cells Template:Genecard
CD8 2p12 CD8 antigen -- The prototype marker for cytotoxic T cells Template:Genecard
IL2 4q26-q27 Interleukin 2 Various cancers Strong pro-inflammatory cytokine Template:Genecard
IL10 1q31-q32 Interleukin 10 -- anti-inflammatory cytokine Template:Genecard

Genes that have attracted media attention

HUGO Symbol Locus Gene product Associated disease Notes Genecard
BRCA1 17q21 Breast cancer 1, early onset Breast cancer Myriad Genetics owns a controversial patent on this gene [1] Template:Genecard
BRCA2 13q12-13 Breast cancer 2, early onset Breast cancer Myriad Genetics owns a controversial patent on this gene [2] Template:Genecard
CD28 2q33 CD28 antigen -- The target of the drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006. Template:Genecard
ZBTB7A 19p13.3 Zbtb7 / POK erythroid myeloid ontogenic factor Cancer Originally called POKemon, the gene was renamed after legal threats from Pokémon USA [3]. Template:Genecard

Genes causing hereditary diseases

HUGO Symbol Locus Gene product Associated disease Notes Genecard
APC 5q21-q22 Adenomatous polyposis coli protein Familial adenomatous polyposis -- Template:Genecard
ASPM 1q31 Abnormal spindle-like microcephaly-associated protein Microcephaly -- Template:Genecard
BDNF 11p13 Brain-derived neurotrophic factor Congenital Central Hypoventilation Syndrome -- Template:Genecard
CFTR 7q31.2 Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis One of the first genetic diseases for which gene therapy was believed to be achievable. PMID 16296753 Template:Genecard
CREBBP 16p13.3 CREB binding protein Rubinstein-Taybi syndrome -- Template:Genecard
CRH 8q13 Corticotropin releasing hormone Cushing's syndrome -- Template:Genecard
CXCR4 2q21 Chemokine (C-X-C motif) receptor 4 / fusin WHIM syndrome -- Template:Genecard
DHFR 5q11.2-q13.2 Dihydrofolate reductase Folate deficiency -- Template:Genecard
HFE 6p21.3 Hereditary hemochromatosis protein precursor Haemochromatosis -- Template:Genecard
KRT14 17q12-q21 Keratin Epidermolysis bullosa -- Template:Genecard
KRT5 12q13 Keratin Epidermolysis bullosa -- Template:Genecard
PGL2 11q13.1 Paraganglioma or familial glomus tumors 2 Paraganglioma -- Template:Genecard
RHO 3q21-q24 Rhodopsin Retinitis pigmentosa -- Template:Genecard
SDHB 1p36.1-p35 Succinate dehydrogenase complex subunit B Pheochromocytoma/Paraganglioma -- Template:Genecard
SDHC 1q21 Succinate dehydrogenase complex subunit C Pheochromocytoma/Paraganglioma -- Template:Genecard
SDHD 11q23 Succinate dehydrogenase complex subunit D Pheochromocytoma/Paraganglioma -- Template:Genecard
SRY Yp11.3 Testis determining factor / Sex determining region Y Swyer syndrome / Gonadal dysgenesis / Hermaphroditism -- Template:Genecard
TSC1 9q34 Hamartin Tuberous sclerosis -- Template:Genecard
TSC2 16p13.3 Tuberin Tuberous sclerosis -- Template:Genecard

Genes contributing to multifactorial diseases

HUGO Symbol Locus Gene product Associated disease Notes Genecard
APP 21q21 Amyloid precursor protein Alzheimer's Disease -- Template:Genecard
GAST 17q21 Gastrin Zollinger-Ellison syndrome -- Template:Genecard
LCK 1p35-p34.3 Leukocyte-specific protein tyrosine kinase Leukemia -- Template:Genecard
LEP 7q31.3 Leptin Obesity -- Template:Genecard
LIF 22q12.1-q12.2 Leukemia inhibitory factor Leukemia -- Template:Genecard
MCM6 2q21 Minichromosome maintenance deficient 6 lactose intolerance -- Template:Genecard
MYH7 14q12 Myosin, heavy polypeptide 7, cardiac muscle, beta Hypertrophic cardiomyopathy -- Template:Genecard
MYOD1 11p15.4 Myogenic differentiation 1 Rhabdomyosarcoma -- Template:Genecard
NPPB 1p36.2 Brain Natriuretic Peptide Cardiovascular disease -- Template:Genecard
OSM 22q12.1-q12.2 Oncostatin M Leukemia -- Template:Genecard
PKC 16p11.2-q12.1 Paroxysmal kinesigenic choreoathetosis Choreoathetosis -- Template:Genecard
PIP 7q32-q36 Prolactin-induced protein Fibrocystic breast disease -- Template:Genecard
SLC18A2 10q25 Vesicular Monoamine Transporter Drug induced mood disorders -- Template:Genecard

See also

hu:Jelentős gének listája

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