Immunoglobulin like domain smart00410: Difference between revisions

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|url=https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=214653
|url=https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=214653
|accessdate=24 May 2020 }}</ref>
|accessdate=24 May 2020 }}</ref>
IGv: "This entry [SM00406] represents the V-set domains, which are Ig-like domains resembling the antibody variable domain. V-set domains are found in diverse protein families, including immunoglobulin light and heavy chains; in several T-cell receptors such as CD2 (Cluster of Differentiation 2), CD4, CD80, and CD86; in myelin membrane adhesion molecules; in junction adhesion molecules (JAM); in tyrosine-protein kinase receptors; and in the programmed cell death protein 1 (PD1)."<ref name=LetunicIGv>{{ cite web
|author=Ivica Letunic
|title=IGv Immunoglobulin C-Type
|publisher=European Molecular Biology Laboratory
|location=Heidelberg, Germany
|date=2019
|url=http://smart.embl-heidelberg.de/smart/do_annotation.pl?BLAST=DUMMY&DOMAIN=IGv
|accessdate=24 June 2020 }}</ref>
"There are 25606 IGv domains [SM00406] in 24468 proteins in SMART's nrdb database."<ref name=LetunicIGv/>
IGc1: "The basic structure of immunoglobulin (Ig) molecules is a tetramer of two light chains and two heavy chains linked by disulphide bonds. There are two types of light chains: kappa and lambda, each composed of a constant domain (CL) and a variable domain (VL). There are five types of heavy chains: alpha, delta, epsilon, gamma and mu, all consisting of a variable domain (VH) and three (in alpha, delta and gamma) or four (in epsilon and mu) constant domains (CH1 to CH4). Ig molecules are highly modular proteins, in which the variable and constant domains have clear, conserved sequence patterns. The domains in Ig and Ig-like molecules are grouped into four types: V-set (variable; IPR013106), C1-set (constant-1; IPR003597), C2-set (constant-2; IPR008424) and I-set (intermediate; IPR013098) [(PUBMED:9417933)]. Structural studies have shown that these domains share a common core Greek-key beta-sandwich structure, with the types differing in the number of strands in the beta-sheets as well as in their sequence patterns [(PUBMED:15327963), (PUBMED:11377196)]."<ref name=LetunicIGc1>{{ cite web
|author=Ivica Letunic
|title=IGc1 Immunoglobulin C-Type
|publisher=European Molecular Biology Laboratory
|location=Heidelberg, Germany
|date=2019
|url=http://smart.embl-heidelberg.de/smart/do_annotation.pl?BLAST=DUMMY&DOMAIN=IGc1
|accessdate=24 June 2020 }}</ref> "Immunoglobulin-like domains that are related in both sequence and structure can be found in several diverse protein families. Ig-like domains are involved in a variety of functions, including cell-cell recognition, cell-surface receptors, muscle structure and the immune system [(PUBMED:10698639)]."<ref name=LetunicIGc1/> "This entry [SM00407] represents C1-set domains, which are classical Ig-like domains resembling the antibody constant domain. C1-set domains are found almost exclusively in molecules involved in the immune system, such as in immunoglobulin light and heavy chains, in the major histocompatibility complex (MHC) class I and II complex molecules [(PUBMED:9597133), (PUBMED:12637770)], and in various T-cell receptors."<ref name=LetunicIGc1/>
"There are 24638 IGc1 domains [SM00407] in 22657 proteins in SMART's nrdb database."<ref name=LetunicIGc1/>
IGc2: "This entry [SM00408] represents a subtype of the immunoglobulin domain, and is found in a diverse range of protein families that includes glycoproteins, fibroblast growth factor receptors, vascular endothelial growth factor receptors, interleukin-6 receptor, and neural cell adhesion molecules. It also includes proteins that are classified as unassigned proteinase inhibitors belonging to MEROPS inhibitor families I2, I17 and I43 [(PUBMED:14705960)]."<ref name=LetunicIGc2>{{ cite web
|author=Ivica Letunic
|title=IGc2 Immunoglobulin C-Type
|publisher=European Molecular Biology Laboratory
|location=Heidelberg, Germany
|date=2019
|url=http://smart.embl-heidelberg.de/smart/do_annotation.pl?BLAST=DUMMY&DOMAIN=IGc2
|accessdate=24 June 2020 }}</ref>
"There are 363480 IGc2 domains [SM00408] in 114582 proteins in SMART's nrdb database."<ref name=LetunicIGc2/>
IG: "This subfamily [SM00409] includes:
* Cell surface receptors containing an immunoglobin domain.
* Killer cell inhibitory receptors.
* Oprin a snake venom metalloproteinase inhibitor from Didelphis marsupialis (Southern opossum) [(PUBMED:10779682)], which belongs to MEROPS inhibitor family I43, clan I- [(PUBMED:14705960)].
* Oprin homologues."<ref name=LetunicIG>{{ cite web
|author=Ivica Letunic
|title=IG Immunoglobulin C-Type
|publisher=European Molecular Biology Laboratory
|location=Heidelberg, Germany
|date=2019
|url=http://smart.embl-heidelberg.de/smart/do_annotation.pl?BLAST=DUMMY&DOMAIN=IG
|accessdate=24 June 2020 }}</ref>
"There are 417572 IG domains [SM00409] in 173507 proteins in SMART's nrdb database."<ref name=LetunicIG/>


"smart00410 is a member of the superfamily cl11960."<ref name=NCBI214653/>
"smart00410 is a member of the superfamily cl11960."<ref name=NCBI214653/>
"There are 91644 IG_like domains [SM00410] in 55038 proteins in SMART's nrdb database."<ref name=LetunicSM00410>{{ cite web
|author=Ivica Letunic
|title=IG_like Immunoglobulin like
|publisher=European Molecular Biology Laboratory
|location=Heidelberg, Germany
|date=2019
|url=http://smart.embl-heidelberg.de/smart/do_annotation.pl?BLAST=DUMMY&DOMAIN=SM00410
|accessdate=24 June 2020 }}</ref>


==Carcinoembryonic antigen gene family==
==Carcinoembryonic antigen gene family==

Revision as of 23:28, 24 June 2020

Associate Editor(s)-in-Chief: Henry A. Hoff

The United States National Library of Medicine (NLM) is a biomedical library in the United States as part of the National Institutes of Health that contains "hierarchical classifications of widely distributed protein domain families [and records] conserved sites associated with molecular function, so that they can be mapped onto user queries in support of hypothesis-driven biomolecular research."[1]

"At the time of writing, the CDD version v3.17 is the live production version with 52,910 protein- and protein domain-models obtained from Pfam (1), SMART (2), the COGs collection (3), TIGRFAMS (4), the NCBI Protein Clusters collection (5), NCBIfam (6) and CDD’s in-house data curation effort (7)."[1]

"SMART (Simple Modular Architecture Research Tool) is a web resource (http://smart.embl.de) for the identification and annotation of protein domains and the analysis of protein domain architectures."[2]

Immunoglobulin supergene family

Main article: Immunoglobulin supergene family

The immunoglobulin supergene family is "the group of proteins that have immunoglobulin-like domains, including histocompatibility antigens, the T-cell antigen receptor, poly-IgR, and other proteins involved in the vertebrate immune response (17)."[3]

Alpha-1-B glycoprotein variants

Gene ID: 1 A1BG alpha-1-B glycoprotein on 19q13.43: "The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins."[4]

"𝛂1B-glycoprotein(𝛂1B) [...] consists of a single polypeptide chain N-linked to four glucosamine oligosaccharides. The polypeptide has five intrachain disulfide bonds and contains 474 amino acid residues. [...] 𝛂1B exhibits internal duplication and consists of five repeating structural domains, each containing about 95 amino acids and one disulfide bond. [...] several domains of 𝛂1B, especially the third, show statistically significant homology to variable regions of certain immunoglobulin light and heavy chains. 𝛂1B [...] exhibits sequence similarity to other members of the immunoglobulin supergene family such as the receptor for transepithelial transport of IgA and IgM and the secretory component of human IgA."[3]

"Some of the domains of 𝛂1B show significant homology to variable (V) and constant (C) regions of certain immunoglobulins. Likewise, there is statistically significant homology between 𝛂1B and the secretory component (SC) of human IgA (15) and also with the extracellular portion of the rabbit receptor for transepithelial transport of polymeric immunoglobulins (IgA and IgM). Mostov et al. (16) have called the later protein the poly-Ig receptor or poly-IgR and have shown that it is the precursor of SC."[3]

"𝛂1B-glycoprotein(𝛂1B) [...] consists of a single polypeptide chain N-linked to four glucosamine oligosaccharides. The polypeptide has five intrachain disulfide bonds and contains 474 amino acid residues. [...] 𝛂1B exhibits internal duplication and consists of five repeating structural domains, each containing about 95 amino acids and one disulfide bond. [...] several domains of 𝛂1B, especially the third, show statistically significant homology to variable regions of certain immunoglobulin light and heavy chains. 𝛂1B [...] exhibits sequence similarity to other members of the immunoglobulin supergene family such as the receptor for transepithelial transport of IgA and IgM and the secretory component of human IgA."[3]

A1BG contains the immunoglobulin domain: cl11960 and three immunoglobulin-like domains: pfam13895, cd05751 and smart00410.

"Immunoglobulin (Ig) domain [cl11960] found in the Ig superfamily. The Ig superfamily is a heterogenous group of proteins, built on a common fold comprised of a sandwich of two beta sheets. Members of this group are components of immunoglobulin, neuroglia, cell surface glycoproteins, such as, T-cell receptors, CD2, CD4, CD8, and membrane glycoproteins, such as, butyrophilin and chondroitin sulfate proteoglycan core protein. A predominant feature of most Ig domains is a disulfide bridge connecting the two beta-sheets with a tryptophan residue packed against the disulfide bond."[5]

"This domain [pfam13895] contains immunoglobulin-like domains."[6]

"Ig1_LILR_KIR_like: [cd05751] domain similar to the first immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILRs) and Natural killer inhibitory receptors (KIRs). This group includes LILRB1 (or LIR-1), LILRA5 (or LIR9), an activating natural cytotoxicity receptor NKp46, the immune-type receptor glycoprotein VI (GPVI), and the IgA-specific receptor Fc-alphaRI (or CD89). LILRs are a family of immunoreceptors expressed on expressed on T and B cells, on monocytes, dendritic cells, and subgroups of natural killer (NK) cells. The human LILR family contains nine proteins (LILRA1-3,and 5, and LILRB1-5). From functional assays, and as the cytoplasmic domains of various LILRs, for example LILRB1 (LIR-1), LILRB2 (LIR-2), and LILRB3 (LIR-3) contain immunoreceptor tyrosine-based inhibitory motifs (ITIMs) it is thought that LIR proteins are inhibitory receptors. Of the eight LIR family proteins, only LIR-1 (LILRB1), and LIR-2 (LILRB2), show detectable binding to class I MHC molecules; ligands for the other members have yet to be determined. The extracellular portions of the different LIR proteins contain different numbers of Ig-like domains for example, four in the case of LILRB1 (LIR-1), and LILRB2 (LIR-2), and two in the case of LILRB4 (LIR-5). The activating natural cytotoxicity receptor NKp46 is expressed in natural killer cells, and is organized as an extracellular portion having two Ig-like extracellular domains, a transmembrane domain, and a small cytoplasmic portion. GPVI, which also contains two Ig-like domains, participates in the processes of collagen-mediated platelet activation and arterial thrombus formation. Fc-alphaRI is expressed on monocytes, eosinophils, neutrophils and macrophages; it mediates IgA-induced immune effector responses such as phagocytosis, antibody-dependent cell-mediated cytotoxicity and respiratory burst."[7]

"IG domains [smart00410] that cannot be classified into one of IGv1, IGc1, IGc2, IG."[8]

IGv: "This entry [SM00406] represents the V-set domains, which are Ig-like domains resembling the antibody variable domain. V-set domains are found in diverse protein families, including immunoglobulin light and heavy chains; in several T-cell receptors such as CD2 (Cluster of Differentiation 2), CD4, CD80, and CD86; in myelin membrane adhesion molecules; in junction adhesion molecules (JAM); in tyrosine-protein kinase receptors; and in the programmed cell death protein 1 (PD1)."[9]

"There are 25606 IGv domains [SM00406] in 24468 proteins in SMART's nrdb database."[9]

IGc1: "The basic structure of immunoglobulin (Ig) molecules is a tetramer of two light chains and two heavy chains linked by disulphide bonds. There are two types of light chains: kappa and lambda, each composed of a constant domain (CL) and a variable domain (VL). There are five types of heavy chains: alpha, delta, epsilon, gamma and mu, all consisting of a variable domain (VH) and three (in alpha, delta and gamma) or four (in epsilon and mu) constant domains (CH1 to CH4). Ig molecules are highly modular proteins, in which the variable and constant domains have clear, conserved sequence patterns. The domains in Ig and Ig-like molecules are grouped into four types: V-set (variable; IPR013106), C1-set (constant-1; IPR003597), C2-set (constant-2; IPR008424) and I-set (intermediate; IPR013098) [(PUBMED:9417933)]. Structural studies have shown that these domains share a common core Greek-key beta-sandwich structure, with the types differing in the number of strands in the beta-sheets as well as in their sequence patterns [(PUBMED:15327963), (PUBMED:11377196)]."[10] "Immunoglobulin-like domains that are related in both sequence and structure can be found in several diverse protein families. Ig-like domains are involved in a variety of functions, including cell-cell recognition, cell-surface receptors, muscle structure and the immune system [(PUBMED:10698639)]."[10] "This entry [SM00407] represents C1-set domains, which are classical Ig-like domains resembling the antibody constant domain. C1-set domains are found almost exclusively in molecules involved in the immune system, such as in immunoglobulin light and heavy chains, in the major histocompatibility complex (MHC) class I and II complex molecules [(PUBMED:9597133), (PUBMED:12637770)], and in various T-cell receptors."[10]

"There are 24638 IGc1 domains [SM00407] in 22657 proteins in SMART's nrdb database."[10]

IGc2: "This entry [SM00408] represents a subtype of the immunoglobulin domain, and is found in a diverse range of protein families that includes glycoproteins, fibroblast growth factor receptors, vascular endothelial growth factor receptors, interleukin-6 receptor, and neural cell adhesion molecules. It also includes proteins that are classified as unassigned proteinase inhibitors belonging to MEROPS inhibitor families I2, I17 and I43 [(PUBMED:14705960)]."[11]

"There are 363480 IGc2 domains [SM00408] in 114582 proteins in SMART's nrdb database."[11]

IG: "This subfamily [SM00409] includes:

  • Cell surface receptors containing an immunoglobin domain.
  • Killer cell inhibitory receptors.
  • Oprin a snake venom metalloproteinase inhibitor from Didelphis marsupialis (Southern opossum) [(PUBMED:10779682)], which belongs to MEROPS inhibitor family I43, clan I- [(PUBMED:14705960)].
  • Oprin homologues."[12]

"There are 417572 IG domains [SM00409] in 173507 proteins in SMART's nrdb database."[12]

"smart00410 is a member of the superfamily cl11960."[8]

"There are 91644 IG_like domains [SM00410] in 55038 proteins in SMART's nrdb database."[13]

Carcinoembryonic antigen gene family

Main article: Carcinoembryonic antigen gene family

Immunoglobulin superfamily genes

Main article: Immunoglobulin superfamily

Major histocompatibility complex genes

Main article: Major histocompatibility complex

Class I

Main article: MHC class I
Main article: Major histocompatibility complex class I gene family

Class II

Main article: MHC class II
Main article: Major histocompatibility complex class II gene family

Class III

Main article: MHC class III
Main article: Major histocompatibility complex class III gene family

Immunoglobulin domain genes

Main article: Immunoglobulin domain genes

Immunoglobulin receptor superfamily

Main article: Immunoglobulin receptor superfamily genes

Genes having immunoglobulin like domain smart00410

Gene ID: 1 see Immunoglobulin domain genes.

Gene ID: 177 see Major histocompatibility complex class III gene family.

Gene ID: 214 see Carcinoembryonic antigen gene family.

Gene ID: 634 see Carcinoembryonic antigen gene family.

Gene ID: 682 see Immunoglobulin supergene family.

Gene ID: 973 see Immunoglobulin receptor superfamily genes.

Gene ID: 974 see Immunoglobulin receptor superfamily genes.

Gene ID: 1048 see Carcinoembryonic antigen gene family.

Gene ID: 1089 see Carcinoembryonic antigen gene family.

Gene ID: 1630 see Immunoglobulin receptor superfamily genes.

Gene ID: 1826 see Carcinoembryonic antigen gene family.

Gene ID: 2212 see Immunoglobulin receptor superfamily genes.

Gene ID: 2213 see Immunoglobulin receptor superfamily genes.

Gene ID: 2214 see Immunoglobulin receptor superfamily genes.

Gene ID: 2260 is FGFR1 fibroblast growth factor receptor 1: "The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized."[14]

  1. NP_001167534.1 fibroblast growth factor receptor 1 isoform 10 precursor: "Transcript Variant: This variant (10) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (10) lacks a 2-aa segment, compared to isoform 1."[14] Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 → 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 270 → 359 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  2. NP_001167535.1 fibroblast growth factor receptor 1 isoform 11 precursor: "Transcript Variant: This variant (11) includes an alternate exon, uses an alternate translation start site, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (11) has a shorter and distinct N-terminus and lacks a 2-aa segment, compared to isoform 1."[14] Conserved Domains (7) summary: cd04973 Location: 32 → 110 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 262 → 351 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 155 → 239 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 254 → 350 IG_like; Immunoglobulin like, pfam07679 Location: 152 → 239 I-set; Immunoglobulin I-set domain.[14]
  3. NP_001167536.1 fibroblast growth factor receptor 1 isoform 2 precursor: "Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform.z"[14] Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 268 → 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 260 → 356 IG_like; Immunoglobulin like, pfam07679 Location: 158 → 245 I-set; Immunoglobulin I-set domain.[14]
  4. NP_001167537.1 fibroblast growth factor receptor 1 isoform 3 precursor: "Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform."[14] Conserved Domains (6) summary: cd04974 Location: 181 → 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 → 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 → 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 → 158 I-set; Immunoglobulin I-set domain.[14]
  5. NP_001167538.1 fibroblast growth factor receptor 1 isoform 14 precursor: "Transcript Variant: This variant (14) represents use of an alternate promoter and 5' UTR, includes an alternate exon, uses an alternate translation start site, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (14) lacks two internal segments, compared to isoform 1."[14] Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 → 390 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 → 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 → 389 IG_like; Immunoglobulin like, pfam07679 Location: 191 → 278 I-set; Immunoglobulin I-set domain.[14]
  6. NP_001341296.1 fibroblast growth factor receptor 1 isoform 15 precursor, Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location:161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357, Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  7. NP_001341297.1 fibroblast growth factor receptor 1 isoform 16 precursor, Conserved Domains (3) summary: cd05857 Location: 72 → 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 → 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  8. NP_001341298.1 fibroblast growth factor receptor 1 isoform 17 precursor, Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  9. NP_001341299.1 fibroblast growth factor receptor 1 isoform 18 precursor, Conserved Domains (3) summary: cd05857 Location: 72 → 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 → 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  10. NP_056934.2 fibroblast growth factor receptor 1 isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform."[14] Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 268 → 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 260 → 356 IG_like; Immunoglobulin like, pfam07679 Location: 158 → 245 I-set; Immunoglobulin I-set domain.[14]
  11. NP_075593.1 fibroblast growth factor receptor 1 isoform 3 precursor: "Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform."[14] Conserved Domains (6) summary: cd04974 Location: 181 → 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 → 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 → 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 → 158 I-set; Immunoglobulin I-set domain.[14]
  12. NP_075594.1 fibroblast growth factor receptor 1 isoform 4 precursor: "Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses a different in-frame splice junction compared to variant 1. This variant encodes isoform 4, also known as isoform I, H3, and the 2-Ig Domain form, which is 91 aa shorter than isoform 1."[14] Conserved Domains (6) summary: cd04974 Location: 179 → 268 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 72 → 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 171 → 267 IG_like; Immunoglobulin like, pfam07679 Location: 69 → 156 I-set; Immunoglobulin I-set domain.[14]
  13. NP_075598.2 fibroblast growth factor receptor 1 isoform 1 precursor: "Transcript Variant: This variant (1) encodes isoform 1, also known as isoform Alpha A1, IV and the 3-Ig domain+2 AA insert form."[14] Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 → 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 → 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 → 358 IG_like; Immunoglobulin like, pfam07679 Location: 160 → 247 I-set; Immunoglobulin I-set domain.[14]
  14. XP_006716373.1 fibroblast growth factor receptor 1 isoform X18 Conserved Domains (6) summary: cd04974 Location: 181 → 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 → 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 → 269 IG_like; Immunoglobulin like, and pfam07679 Location: 71 → 158 I-set; Immunoglobulin I-set domain.[14]
  15. XP_006716366.1 fibroblast growth factor receptor 1 isoform X8, Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 → 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 → 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 → 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 → 247 I-set; Immunoglobulin I-set domain.[14]
  16. XP_016868710.1 fibroblast growth factor receptor 1 isoform X8, Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 → 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 → 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 → 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 → 247 I-set; Immunoglobulin I-set domain.[14]
  17. XP_006716370.1 fibroblast growth factor receptor 1 isoform X9, Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  18. XP_006716367.1 fibroblast growth factor receptor 1 isoform X8 Conserved Domains (7) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 → 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 → 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 → 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 → 247 I-set; Immunoglobulin I-set domain.[14]
  19. XP_006716377.1 fibroblast growth factor receptor 1 isoform X19, Conserved Domains (3) summary: cd05857 Location: 72 → 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 → 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  20. XP_006716374.1 fibroblast growth factor receptor 1 isoform X18, Conserved Domains (6) summary: cd04974 Location: 181 → 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 → 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 → 269 IG_like; Immunoglobulin like, and pfam07679 Location: 71 → 158 I-set; Immunoglobulin I-set domain.[14]
  21. XP_011542747.1 fibroblast growth factor receptor 1 isoform X3, Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 → 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 → 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 → 391 IG_like; Immunoglobulin like, pfam07679 Location: 193 → 280 I-set; Immunoglobulin I-set domain.[14]
  22. XP_011542745.1 fibroblast growth factor receptor 1 isoform X1, Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 → 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 → 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 → 391 IG_like; Immunoglobulin like, pfam07679 Location: 193 → 280 I-set; Immunoglobulin I-set domain.[14]
  23. XP_011542746.1 fibroblast growth factor receptor 1 isoform X2, Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 → 390 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 → 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 → 389 IG_like; Immunoglobulin like, pfam07679 Location: 191 → 278 I-set; Immunoglobulin I-set domain.[14]
  24. XP_011542751.1 fibroblast growth factor receptor 1 isoform X14, Conserved Domains (6) summary: cd04974 Location: 212 → 301 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 105 → 189 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 204 → 300 IG_like; Immunoglobulin like, pfam07679 Location: 102 → 189 I-set; Immunoglobulin I-set domain.[14]
  25. XP_011542750.1 fibroblast growth factor receptor 1 isoform X13, Conserved Domains (6) summary: cd04974 Location: 214 → 303 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 107 → 191 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 206 → 302 IG_like; Immunoglobulin like, pfam07679 Location: 104 → 191 I-set; Immunoglobulin I-set domain.[14]
  26. XP_006716375.1 fibroblast growth factor receptor 1 isoform X18, Conserved Domains (6) summary: cd04974 Location: 181 → 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 → 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 → 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 → 158 I-set; Immunoglobulin I-set domain.[14]
  27. XP_011542753.1 fibroblast growth factor receptor 1 isoform X20, Conserved Domains (6) summary: cd04974 Location: 173 → 262 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 66 → 150 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 165 → 261 IG_like; Immunoglobulin like, pfam07679 Location: 63 → 150 I-set; Immunoglobulin I-set domain.[14]
  28. XP_024302865.1 fibroblast growth factor receptor 1 isoform X11, Conserved Domains (4) summary: cd04973 Location: 32 → 110 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 155 → 239 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 262 → 351 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  29. XP_016868713.1 fibroblast growth factor receptor 1 isoform X12, Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  30. XP_011542749.1 fibroblast growth factor receptor 1 isoform X6, Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 → 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 → 280, Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 → 391 IG_like; Immunoglobulin like, and pfam07679 Location:193 → 280 I-set; Immunoglobulin I-set domain.[14]
  31. XP_011542748.1 fibroblast growth factor receptor 1 isoform X5, Conserved Domains (7) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 → 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 → 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 → 391 IG_like; Immunoglobulin like, and pfam07679 Location: 193 → 280 I-set; Immunoglobulin I-set domain.[14]
  32. XP_011542752.1 fibroblast growth factor receptor 1 isoform X15, Conserved Domains (6) summary: cd04974 Location: 212 → 301 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 105 → 189 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 204 → 300 IG_like; Immunoglobulin like, and pfam07679 Location: 102 → 189 I-set; Immunoglobulin I-set domain.[14]
  33. XP_016868714.1 fibroblast growth factor receptor 1 isoform X12, Conserved Domains (4) summary: cd04973 Location: 40 → 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[14]
  34. XP_011542754.1 fibroblast growth factor receptor 1 isoform X24, Conserved Domains (5) summary: cd04973 Location: 73 → 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 → 387 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 → 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 → 387 IG_like; Immunoglobulin like, and pfam07679 Location: 191 → 278 I-set; Immunoglobulin I-set domain.[14]

Gene ID: 2261 is FGFR3 fibroblast growth factor receptor 3 on 4p16.3: "This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia."[15]

  1. NP_000133.1 fibroblast growth factor receptor 3 isoform 1 precursor: "Transcript Variant: This variant (1) lacks an alternate coding exon and contains another alternate coding exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3."[15] Conserved Domains (7) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 356 IG_like; Immunoglobulin like.[15]
  2. NP_001156685.1 fibroblast growth factor receptor 3 isoform 3 precursor: "Transcript Variant: This variant (3), also known as isoform IIIb, encodes the longest isoform (3)."[15] Conserved Domains (7) summary: cd04974 Location: 268 → 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 355 IG_like; Immunoglobulin like.[15]
  3. NP_001341738.1 fibroblast growth factor receptor 3 isoform 4 precursor: "Transcript Variant: This variant (4) lacks an alternate coding exon, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3."[15] Conserved Domains (4) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), and smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type.[15]
  4. NP_001341739.1 fibroblast growth factor receptor 3 isoform 5 precursor: "Transcript Variant: This variant (5) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (5) has multiple differences compared to isoform 3."[15] Conserved Domains (4) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), and smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type.[15]
  5. NP_075254.1 fibroblast growth factor receptor 3 isoform 2 precursor: "Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3."[15] Conserved Domains (6) summary: cd04974 Location: 268 → 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, and smart00409 Location: 260 → 289 IG; Immunoglobulin.[15]
  6. XP_006713931.1 fibroblast growth factor receptor 3 isoform X1, Conserved Domains (7) summary: cd04974 Location: 268 → 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 355 IG_like; Immunoglobulin like.[15]
  7. XP_006713932.1 fibroblast growth factor receptor 3 isoform X2 Conserved Domains (7) summary: cd04974 Location: 268 → 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 355 IG_like; Immunoglobulin like.[15]
  8. XP_006713933.1 fibroblast growth factor receptor 3 isoform X3, Conserved Domains (7) summary: cd04974 Location: 268 → 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and 'smart00410 Location: 260 → 355 IG_like; Immunoglobulin like.[15]
  9. XP_006713934.1 fibroblast growth factor receptor 3 isoform X4 Conserved Domains (7) summary: cd04974 Location: 268 → 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 355 IG_like; Immunoglobulin like.[15]
  10. XP_011511722.1 fibroblast growth factor receptor 3 isoform X5, Conserved Domains (7) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 356 IG_like; Immunoglobulin like.[15]
  11. XP_011511724.1 fibroblast growth factor receptor 3 isoform X6, Conserved Domains (7) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 356 IG_like; Immunoglobulin like.[15]
  12. XP_006713936.1 fibroblast growth factor receptor 3 isoform X7, Conserved Domains (7) summary: cd05857 Location: 161 → 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 → 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 → 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 → 125 IG; Immunoglobulin, and smart00410 Location: 260 → 356 IG_like; Immunoglobulin like.[15]

Gene ID: 2263 is FGFR2 fibroblast growth factor receptor 2 on 10q26.13: "The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene."[16]

  1. NP_000132.3 fibroblast growth factor receptor 2 isoform 1 precursor: "Transcript Variant: This variant (1) encodes isoform 1, also referred to as isoform BEK and K-sam."[16] Conserved Domains (7) summary: cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 271 → 360 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 174 → 248 IG; Immunoglobulin, and smart00410 Location: 263 → 359 IG_like; Immunoglobulin like.[16]
  2. NP_001138385.1 fibroblast growth factor receptor 2 isoform 3 precursor: "Transcript Variant: This variant (3) uses an alternate internal in-frame coding exon (as in variant 2), and an alternate 3' terminal exon, compared to transcript variant 1. This results in an isoform (3) with a different, 1 aa longer protein segment in the mid-region, and a novel shorter C-terminus, compared to isoform 1."[16] Conserved Domains (6) summary cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 271 → 358 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 263 → 357 IG_like; Immunoglobulin like.[16]
  3. NP_001138386.1 fibroblast growth factor receptor 2 isoform 4 precursor: "Transcript Variant: This variant (4) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (4) lacking an internal protein segment compared to isoform 1."[16] Conserved Domains (5) summary: cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 47 → 124 IG_like; Immunoglobulin like.[16]
  4. NP_001138387.1 fibroblast growth factor receptor 2 isoform 5 precursor: "Transcript Variant: This variant (5) uses an alternate 5' terminal non-coding exon, and is missing an internal in-frame coding exon, compared to transcript variant 1. This results in a shorter isoform (5) lacking an internal protein segment compared to isoform 1."[16] Conserved Domains (6) summary: cd05857 Location: 75 → 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 182 → 271 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 85 → 159 IG; Immunoglobulin, and smart00410 Location: 174 → 270 IG_like; Immunoglobulin like.[16]
  5. NP_001138388.1 fibroblast growth factor receptor 2 isoform 6 precursor: "Transcript Variant: This variant (6) uses an alternate 5' terminal exon, and is missing two consecutive in-frame coding exons, compared to transcript variant 1. This results in a shorter isoform (6) lacking an internal protein segment compared to isoform 1."[16] Conserved Domains (6) summary: cd05857 Location: 49 → 133 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 156 → 245 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 59 → 133 IG; Immunoglobulin, and smart00410 Location: 148 → 244 IG_like; Immunoglobulin like.[16]
  6. NP_001138389.1 fibroblast growth factor receptor 2 isoform 7 precursor: "Transcript Variant: This variant (7) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (7) lacking an internal protein segment compared to isoform 1."[16] Conserved Domains (6) summary: cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 47 → 124 IG_like; Immunoglobulin like, and cl11960 Location: 271 → 363 Ig; Immunoglobulin domain.[16]
  7. NP_001138390.1 fibroblast growth factor receptor 2 isoform 8 precursor: "Transcript Variant: This variant (8) is missing two consecutive in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon, compared to transcript variant 1. This results in a shorter isoform (8) lacking an internal protein segment and additional 2 aa, compared to isoform 1."[16] Conserved Domains (3) summary: cd05857 Location: 49 → 133 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 156 → 245 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[16]
  8. NP_001138391.1 fibroblast growth factor receptor 2 isoform 9 precursor: "Transcript Variant: This variant (9) is missing an in-frame coding exon, uses an alternate internal in-frame coding exon (as in variant 2) and an alternate 3' terminal exon, compared to transcript variant 1. This results in a shorter isoform (9), which differs in two internal segments, and has a novel C-terminus compared to isoform 1."[16] Conserved Domains (6) summary: cd04974 Location: 182 → 269 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 75 → 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00409 Location: 85 → 159 IG; Immunoglobulin, and smart00410 Location: 174 → 268 IG_like; Immunoglobulin like.[16]
  9. NP_001307583.1 fibroblast growth factor receptor 2 isoform 15: "Transcript Variant: This variant (15) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (15) with a shorter N-terminus compared to isoform 1."[16] Conserved Domains (2) summary: cd05858 Location: 43 → 132 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[16]
  10. NP_001307587.1 fibroblast growth factor receptor 2 isoform 16 precursor: "Transcript Variant: This variant (16) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (16) is shorter than isoform 1."[16] Conserved Domains (7) summary: cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 271 → 360 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 174 → 248 IG; Immunoglobulin, and smart00410 Location: 263 → 359 IG_like; Immunoglobulin like.[16]
  11. NP_075259.4 fibroblast growth factor receptor 2 isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate internal in-frame coding exon compared to transcript variant 1, resulting in an isoform (2, also known as isoform K-sam-IIH1, IIIb, and BFR-1) with a different, 1 aa longer protein segment in the mid-region compared to isoform 1."[16] Conserved Domains (6) summary: cd04973 Location: 47 → 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 271 → 358 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR) cd05857 Location: 164 → 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 263 → 357IG_like; Immunoglobulin like.[16]
  12. NP_075418.1 fibroblast growth factor receptor 2 isoform 11 precursor: "Transcript Variant: This variant (11) lacks an in-frame coding exon in the 5' region, compared to variant 1. This results in a shorter isoform (11) lacking an internal protein segment compared to isoform 1."[16] Conserved Domains (6) summary: cd05857 Location: 75 → 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 182 → 271 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 85 → 159 IG; Immunoglobulin, and smart00410 Location: 174 → 270 IG_like; Immunoglobulin like.[16]
  13. XP_016871410.1 fibroblast growth factor receptor 2 isoform X4, Conserved Domains (7) summary: cd04973 Location: 66 → 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 → 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 290 → 379 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 193 → 267 IG; Immunoglobulin, and smart00410 Location: 282 → 378 IG_like; Immunoglobulin like.[16]
  14. XP_006717773.1 fibroblast growth factor receptor 2 isoform X2, Conserved Domains (6) summary: cd04973 Location: 66 → 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 290 → 377 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 → 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 282 → 376 IG_like; Immunoglobulin like.[16]
  15. XP_006717771.1 fibroblast growth factor receptor 2 isoform X1, Conserved Domains (6) summary: cd04973 Location: 66 → 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 290 → 377 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 → 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 282 → 376 IG_like; Immunoglobulin like.[16]
  16. XP_024303657.1 fibroblast growth factor receptor 2 isoform X7, Conserved Domains (3) summary: cd05857 Location: 94 → 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 201 → 290 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[16]
  17. XP_024303656.1 fibroblast growth factor receptor 2 isoform X6, Conserved Domains (3) summary: cd05857 Location: 94 → 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cl11960 Location: 201 → 288 Ig; Immunoglobulin domain.[16]
  18. XP_024303658.1 fibroblast growth factor receptor 2 isoform X8, Conserved Domains (3) summary: cd05857 Location: 94 → 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cl11960 Location: 201 → 288 Ig; Immunoglobulin domain.[16]
  19. XP_024303659.1 fibroblast growth factor receptor 2 isoform X9, Conserved Domains (3) summary: cd05857 Location: 68 → 152 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor and cl11960 Location: 175 → 262 Ig; Immunoglobulin domain.[16]
  20. XP_024303655.1 fibroblast growth factor receptor 2 isoform X5, Conserved Domains (3) summary: cd05857 Location: 94 → 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 201 → 290 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[16]

Gene ID: 2321 is FLT1 fms related receptor tyrosine kinase 1: "This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia."[17]

  1. NP_001153392.1 vascular endothelial growth factor receptor 1 isoform 2 precursor: "Transcript Variant: This variant (2), also known as sFlt1 or sVEGFR-1, differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded soluble protein (isoform 2) has a shorter, distinct C-terminus and lacks the transmembrane and cytoplasmic regions of isoform 1."[17] Conserved Domains (5) summary: cd07702 Location: 353 → 424 Ig_VEGFR-1; Immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00409 Location: 143 → 219 IG; Immunoglobulin, smart00410 Location: 568 → 640 IG_like; Immunoglobulin like, pfam13927 Location: 427 → 539 Ig_3; Immunoglobulin domain, and cl11960 Location: 245 → 327 Ig; Immunoglobulin domain.[17]
  2. NP_001153502.1 vascular endothelial growth factor receptor 1 isoform 3 precursor: "Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded soluble protein (isoform 3) has a shorter, distinct C-terminus and lacks the transmembrane and cytoplasmic regions of isoform 1."[17] Conserved Domains (5) summary: cd05742 Location: 245 → 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 → 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 569 → 640 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 237 → 328 IG_like; Immunoglobulin like, and cl11960 Location: 671 → 708 Ig; Immunoglobulin domain.[17]
  3. NP_001153503.1 vascular endothelial growth factor receptor 1 isoform 4 precursor: "Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded soluble protein (isoform 4) has a shorter, distinct C-terminus and lacks the transmembrane and cytoplasmic regions of isoform 1."[17] Conserved Domains (4) summary: cd05742 Location: 245 → 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 → 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00410 Location: 237 → 328 IG_like; Immunoglobulin like, and cl11960 Location: 439 → 466 Ig; Immunoglobulin domain.[17]
  4. NP_002010.2 vascular endothelial growth factor receptor 1 isoform 1 precursor: "Transcript Variant: This variant (1) the longest isoform (1). Isoform 1 is a transmembrane protein."[17] Conserved Domains (8) summary: cd05742 Location: 245 → 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 → 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 676 → 738 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 568 → 640 IG; Immunoglobulin, smart00410 Location: 237 → 328 IG_like; Immunoglobulin like, and pfam07679 Location: 661 → 748 I-set; Immunoglobulin I-set domain.[17]
  5. XP_011533316.1 vascular endothelial growth factor receptor 1 isoform X2, Conserved Domains (5) summary: cd05742 Location: 245 → 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 → 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 569 → 640 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 237 → 328 IG_like; Immunoglobulin like, and cl11960 Location: 660 → 720 Ig; Immunoglobulin domain.[17]

Gene ID: 3084 is NRG1 neuregulin 1 on 8p12: "The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD)."[18]

  1. NP_001153467.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c: "Transcript Variant: This variant (HRG-beta1c), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1c, also known as type IV fetal C beta 1a or fetal b IV-beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1."[18] Conserved Domains (4) summary: cd05895 Location: 32 → 106 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 22 → 108 IG_like; Immunoglobulin like.[18]
  2. NP_001153468.1 pro-neuregulin-1, membrane-bound isoform isoform ndf43c: "Transcript Variant: This variant (ndf43c), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon, and it also lacks two in-frame exons in the central coding region and includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43c, also known as ndf43) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1."[18]
  3. NP_001153471.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1b: "Transcript Variant: This variant (HRG-beta1b), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1b, also known as type IV fetal B beta 1a) has a distinct N-terminus and is shorter than isoform HRG-beta1."[18] Conserved Domains (4) summary: smart00410 Location: 22 → 108 IG_like; Immunoglobulin like.[18]
  4. NP_001153473.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1d: "Transcript Variant: This variant (HRG-beta1d), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks two in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1d, also known as IV-beta 1a or type IV fetal A beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1."[18] Conserved Domains (4) summary: cd05895 Location: 32 → 106 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 22 → 108 IG_like; Immunoglobulin like.[18]
  5. NP_001153474.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma2: "Transcript Variant: This variant (HRG-gamma2), which uses the type I promoter, lacks an internal in-frame exon and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma2, also known as gamma protein isoform 1) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1."[18] Conserved Domains (2) summary: smart00410 Location: 43 → 129 IG_like; Immunoglobulin like and cl11960 Location: 53 → 127 Ig; Immunoglobulin domain.[18]
  6. NP_001153476.1 pro-neuregulin-1, membrane-bound isoform isoform ndf43b: "Transcript Variant: This variant (ndf43b), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43b, also known as ndf43-beta2) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1."[18] Conserved Domains (3) summary: cd05895 Location: 53 → 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[18]
  7. NP_001153477.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3b: "Transcript Variant: This variant (HRG-beta3b), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta3b, also known as HRG-beta 3 protein isoform) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1." Conserved Domains (2) summary: smart00410 Location: 43 → 129 IG_like; Immunoglobulin like and cl11960 Location: 53 → 127 Ig; Immunoglobulin domain.[18]
  8. NP_001153479.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma3: "Transcript Variant: This variant (HRG-gamma3), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon that results in an early stop codon and an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma3, also known as gamma protein isoform 2) lacks an internal segment and is shorter at the C-terminus, compared to isoform HRG-beta1."[18] Conserved Domains (1) summary: cl11960 Location: 53 → 127 Ig; Immunoglobulin domain.[18]
  9. NP_001153480.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2b: "Transcript Variant: This variant (HRG-beta2b), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and it also contains alternate 3' exon structure resulting an in early stop codon and alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta2b) lacks an internal segment and is shorter at the C-terminus, compared to isoform HRG-beta1."[18]
  10. NP_001309126.1 pro-neuregulin-1, membrane-bound isoform isoform VI-1: "Transcript Variant: This variant (VI-1), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (VI-1) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1."[18]
  11. NP_001309130.1 pro-neuregulin-1, membrane-bound isoform isoform a: "Transcript Variant: This variant (fetal-a-IV-1), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks three internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant HRG-beta1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a."[18]
  12. NP_001309131.1 pro-neuregulin-1, membrane-bound isoform isoform a: "Transcript Variant: This variant (fetal-c-IV-2), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks four internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a."[18]
  13. NP_001309134.1 pro-neuregulin-1, membrane-bound isoform isoform NRG-III-beta1a: "Transcript Variant: This variant (NRG-III-beta1a), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (NRG-III-beta1a, also known as nARIAbeta1a or CRD-NRGbeta1a) has a distinct N-terminus and is longer than isoform HRG-beta1."[18]
  14. NP_001309135.1 pro-neuregulin-1, membrane-bound isoform isoform III-2: "Transcript Variant: This variant (III-2), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (III-2) has distinct N- and C-termini and is shorter than isoform HRG-beta1.[18]
  15. NP_001309136.1 pro-neuregulin-1, membrane-bound isoform isoform III-3: "Transcript Variant: This variant (III-3), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (III-3) has distinct N- and C-termini and is shorter than isoform HRG-beta1."[18]
  16. NP_004486.2 pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma: "Transcript Variant: This variant (HRG-gamma), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-gamma) is shorter at the C-terminus, compared to isoform HRG-beta1."[18] Conserved Domains (2) summary: smart00410 Location: 43 → 129 IG_like; Immunoglobulin like and cl11960 Location: 53 → 127 Ig; Immunoglobulin domain.[18]
  17. NP_039250.2 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1: "Transcript Variant: This variant (HRG-beta1), which uses the type I promoter, encodes isoform HRG-beta1 (also known as NDF-beta1a or HRG-beta1a)."[18] Conserved Domains (4) summary: cd05895 Location: 53 → 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 → 129 IG_like; Immunoglobulin like.[18]
  18. NP_039251.2 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2: "Transcript Variant: This variant (HRG-beta2), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, compared to variant HRG-beta1, resulting in an isoform (HRG-beta2) that is shorter than isoform HRG-beta1."[18] Conserved Domains (4) summary: cd05895 Location: 53 → 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 → 129 IG_like; Immunoglobulin like.[18]
  19. NP_039252.2 pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3: "Transcript Variant: This variant (HRG-beta3), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-beta3, also known as GGF or GGFHFB1) is shorter at the C-terminus, compared to isoform HRG-beta1."[18] Conserved Domains (3) summary: smart00410 Location: 43 → 129 IG_like; Immunoglobulin like and cl11960 Location: 53 → 127 Ig; Immunoglobulin domain.[18]
  20. NP_039253.1 pro-neuregulin-1, membrane-bound isoform isoform SMDF: "Transcript Variant: This variant (SMDF), which uses the type III promoter, is expressed mainly in the nervous system. It lacks multiple 5' and 3' exons but has alternate 5' and 3' terminal exons, and it thus differs in the 5' and 3' coding regions and in both UTRs, compared to variant HRG-beta1. The resulting isoform (SMDF, also known as NRG-III-beta3) has distinct N- and C-termini and is shorter than isoform HRG-beta1."[18]
  21. NP_039254.1 pro-neuregulin-1, membrane-bound isoform isoform ndf43 proprotein: "Transcript Variant: This variant (ndf43), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, and it also contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43) has an alternate internal segment and a distinct C-terminus, and is shorter than isoform HRG-beta1."[18] Conserved Domains (3) summary: cd05895 Location: 53 → 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[18]
  22. NP_039256.2 pro-neuregulin-1, membrane-bound isoform isoform GGF2 precursor: "Transcript Variant: This variant (GGF2), which uses the type II promoter, is expressed in the nervous system and functions as a neuronal signal that promotes the proliferation and survival of the oligodendrocyte and the myelinating cell. This variant contains alternate 5' and 3' terminal exons and thus differs in the 5' and 3' coding regions and in both UTRs, and it also lacks two alternate in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (GGF2, also known as GGFHBS5) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1."[18] Conserved Domains (2) summary: cd05895 Location: 268 → 342 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[18]
  23. NP_039258.1 pro-neuregulin-1, membrane-bound isoform isoform HRG-alpha proprotein: "Transcript Variant: This variant (HRG-alpha), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-alpha, also known as erbB2 or gp30/alpha 1) contains an alternate internal segment and is shorter than isoform HRG-beta1."[18] Conserved Domains (4) summary: cd05895 Location: 53 → 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 → 129 IG_like; Immunoglobulin like.[18]
  24. XP_011542814.1 pro-neuregulin-1, membrane-bound isoform isoform X8, Conserved Domains (4) summary: cd05895 Location: 60 → 134 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 50 → 136 IG_like; Immunoglobulin like.[18]

Gene ID: 3321 see Immunoglobulin supergene family.

Gene ID: 3383 see Carcinoembryonic antigen gene family.

Gene ID: 3385 see Carcinoembryonic antigen gene family.

Gene ID: 3570 is IL6R interleukin 6 receptor on 1q21.3: "This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9."[19]

  1. NP_000556.1 interleukin-6 receptor subunit alpha isoform 1 precursor, Conserved Domains (3) summary: smart00408 Location: 39 → 97 IGc2; Immunoglobulin C-2 Type.[19]
  2. NP_001193795.1 interleukin-6 receptor subunit alpha isoform 3 precursor, Conserved Domains (4) summary: smart00408 Location: 39 → 97 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 33 → 110 IG_like; Immunoglobulin like.[19]
  3. NP_852004.1 interleukin-6 receptor subunit alpha isoform 2 precursor, Conserved Domains (3) summary: smart00408 Location: 39 → 97 IGc2; Immunoglobulin C-2 Type.[19]
  4. XP_005245196.1 interleukin-6 receptor subunit alpha isoform X6, Conserved Domains (4) summary: smart00408 Location: 39 → 97 IGc2; Immunoglobulin C-2 Type, and smart00410 Location: 33 → 110 IG_like; Immunoglobulin like.[19]
  5. XP_005245197.1 interleukin-6 receptor subunit alpha isoform X7, Conserved Domains (4) summary: smart00408 Location: 39 → 97 IGc2; Immunoglobulin C-2 Type, and smart00410 Location: 33 → 110 IG_like; Immunoglobulin like.[19]

Gene ID: 3791 is KDR kinase insert domain receptor on 4q12: "Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas."[20]

  1. NP_002244.1 vascular endothelial growth factor receptor 2 precursor, Conserved Domains (10) summary: cd05862 Location: 239 → 326 Ig1_VEGFR; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor(R), cd05864 Location: 348 → 417 Ig2_VEGFR-2; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 2 (VEGFR-2), smart00408 Location: 680 → 744 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 565 → 661 IG; Immunoglobulin, smart00410 Location: 231 → 324 IG_like; Immunoglobulin like, pfam07679 Location: 667 → 754 I-set; Immunoglobulin I-set domain, pfam13895 Location: 551 → 661 Ig_2; Immunoglobulin domain, and cl11960 Location: 41 → 109 Ig; Immunoglobulin domain.[20]

Gene ID: 3805 see Immunoglobulin receptor superfamily genes.

Gene ID: 3811 see Immunoglobulin receptor superfamily genes.

Gene ID: 3812 see Immunoglobulin receptor superfamily genes.

Gene ID: 3815 is KIT KIT proto-oncogene, receptor tyrosine kinase on 4q12: "This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene."[21]

  1. NP_000213.1 mast/stem cell growth factor receptor Kit isoform 1 precursor: Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)."[21] Conserved Domains (6) summary: cd00096 Location: 426 → 505 Ig; Immunoglobulin domain, cd05860 Location: 311 → 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 → 305 ig; Immunoglobulin domain.[21]
  2. NP_001087241.1 mast/stem cell growth factor receptor Kit isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 2)."[21] Conserved Domains (6) summary: cd00096 Location:426 → 505, Ig; Immunoglobulin domain, cd05860 Location: 311 → 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 → 305 ig; Immunoglobulin domain.[21]
  3. XP_005265797.1 mast/stem cell growth factor receptor Kit isoform X1 Conserved Domains (6) summary: cd00096 Location: 427 → 506 Ig; Immunoglobulin domain, cd05860 Location: 312 → 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 308 IG_like; Immunoglobulin like, and pfam00047 Location: 216 → 306 ig; Immunoglobulin domain.[21]
  4. XP_005265798.1 mast/stem cell growth factor receptor Kit isoform X2 Conserved Domains (6) summary: cd00096 Location: 427 → 506 Ig; Immunoglobulin domain, cd05860 Location: 312 → 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 308 IG_like; Immunoglobulin like, pfam00047 Location: 216 → 306 ig; Immunoglobulin domain.[21]
  5. XP_005265799.1 mast/stem cell growth factor receptor Kit isoform X4 Conserved Domains (6) summary: cd00096 Location: 427 → 506 Ig; Immunoglobulin domain, cd05860 Location: 312 → 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 308 IG_like; Immunoglobulin like, and pfam00047 Location: 216 → 306 ig; Immunoglobulin domain.[21]
  6. XP_016863669.1 mast/stem cell growth factor receptor Kit isoform X6 Conserved Domains (6) summary: cd00096 Location: 426 → 505 Ig; Immunoglobulin domain, cd05860 Location: 311 → 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 → 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 → 305 ig; Immunoglobulin domain.[21]

Gene ID: 3897 see Carcinoembryonic antigen gene family.

Gene ID: 3904 see Immunoglobulin receptor superfamily genes.

Gene ID: 4059 see Carcinoembryonic antigen gene family.

Gene ID: 4680 see Carcinoembryonic antigen gene family.

Gene ID: 4684 see Carcinoembryonic antigen gene family.

Gene ID: 4685 see Carcinoembryonic antigen gene family.

Gene ID: 4897 see Carcinoembryonic antigen gene family.

Gene ID: 4916 is NTRK3 neurotrophic receptor tyrosine kinase 3 on 15q25.3: "This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene."[22]

  1. NP_001007157.1 NT-3 growth factor receptor isoform c precursor: "Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform a."[22] Conserved Domains (5) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC.[22]
  2. NP_001012338.1 NT-3 growth factor receptor isoform a precursor: "Transcript Variant: This variant (1) encodes the longest isoform (a)."[22] Conserved Domains (8) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  3. NP_001230030.1 NT-3 growth factor receptor isoform d precursor: "Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but lacks two alternate internal segments compared to isoform a."[22] Conserved Domains (8) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  4. NP_001307063.1 NT-3 growth factor receptor isoform e precursor: "Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform a."[22] Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  5. NP_001307064.1 NT-3 growth factor receptor isoform f: "Transcript Variant: This variant (6) has multiple differences in the coding and non-coding regions, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform f) has a shorter N-terminus and a distinct C-terminus and is shorter than isoform a."[22] Conserved Domains (7) summary: cd04971 Location: 221 → 298 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 113 → 203 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 120 → 203 IG_like; Immunoglobulin like.[22]
  6. NP_002521.2 NT-3 growth factor receptor isoform b precursor: "Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a."[22] Conserved Domains (8) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  7. XP_016877729.1 NT-3 growth factor receptor isoform X1, Conserved Domains (8) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, smart00219 Location: 538 → 810 TyrKc; Tyrosine kinase, catalytic domain and smart00410 Location:218 → 301, IG_like; Immunoglobulin like.[22]
  8. XP_016877743.1 NT-3 growth factor receptor isoform X20, Conserved Domains (8) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  9. XP_024305701.1 NT-3 growth factor receptor isoform X6, Conserved Domains (6) summary: cd04971 Location: 221 → 298 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 113 → 203 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC.[22]
  10. XP_006720608.1 NT-3 growth factor receptor isoform X7, Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  11. XP_024305702.1 NT-3 growth factor receptor isoform X8, Conserved Domains (5) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC.[22]
  12. XP_024305704.1 NT-3 growth factor receptor isoform X13, Conserved Domains (5) summary: cd04971Location:221 → 298 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC and cd04972 Location: 113 → 203 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC.[22]
  13. XP_024305703.1 NT-3 growth factor receptor isoform X11, Conserved Domains (5) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC.[22]
  14. XP_006720611.1 NT-3 growth factor receptor isoform X12, Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  15. XP_006720613.1 NT-3 growth factor receptor isoform X15, Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  16. XP_006720612.1 NT-3 growth factor receptor isoform X14, Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]
  17. XP_011519940.1 NT-3 growth factor receptor isoform X17, Conserved Domains (7) summary: cd04971 Location: 319 → 396 Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd04972 Location: 211 → 301 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, and smart00410 Location: 218 → 301 IG_like; Immunoglobulin like.[22]

Gene ID: 4978 see Carcinoembryonic antigen gene family.

Gene ID: 5133 is PDCD1 programmed cell death 1 on 2q37.3: "This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases."[23]

  1. NP_005009.2 programmed cell death protein 1 precursor, Conserved Domains (1) summary: cd16088 Location: 35 → 144 IgV_PD1; Immunoglobulin (Ig)-like domain of Programmed cell Death 1 (PD1).[23]
  2. XP_006712636.1 programmed cell death protein 1 isoform X2, Conserved Domains (2) summary: smart00410 Location: 39 → 125 IG_like; Immunoglobulin like and pfam07686 Location: 38 → 127 V-set; Immunoglobulin V-set domain.[23]

Gene ID: 5156 is PDGFRA platelet derived growth factor receptor alpha on 4q12: "This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers."[24]

  1. NP_001334756.1 platelet-derived growth factor receptor alpha isoform 2 precursor: "Transcript Variant: This variant (2) includes an alternate 3' terminal exon, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1."[24]
  2. NP_001334757.1 platelet-derived growth factor receptor alpha isoform 3: "Transcript Variant: This variant (3) contains a novel 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is longer, has a distinct N-terminus and lacks a predicted signal peptide compared to isoform 1."[24]
  3. NP_001334758.1 platelet-derived growth factor receptor alpha isoform 1 precursor: "Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same isoform (1)."[24]
  4. NP_001334759.1 platelet-derived growth factor receptor alpha isoform 4: "Transcript Variant: This variant (4) contains a novel 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is longer, has a distinct N-terminus and lacks a predicted signal peptide compared to isoform 1."[24]
  5. NP_006197.1 platelet-derived growth factor receptor alpha isoform 1 precursor: "Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)."[24] Conserved Domains (6) summary: cd04972 Location: 415 → 497 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 313 → 413 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 → 311 Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), cd05105 Location: 555 → 956 PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha, and smart00409 Location: 223 → 293 IG; Immunoglobulin.[24]
  6. XP_006714104.1 platelet-derived growth factor receptor alpha isoform X2, Conserved Domains (6) summary: cd04972 Location: 440 → 522 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 338 → 438 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 253 → 336 Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), smart00410 Location: 248 → 318 IG_like; Immunoglobulin like, and cl11960 Location: 63 → 137 Ig; Immunoglobulin domain..[24]
  7. XP_005265800.1 platelet-derived growth factor receptor alpha isoform X1, Conserved Domains (6) summary: cd04972 Location: 415 → 497 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 313 → 413 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 → 311 Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), and smart00409 Location: 223 → 293 IG; Immunoglobulin.[24]

Gene ID: 5159 is PDGFRB platelet derived growth factor receptor beta on 5q32: "The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia."[25]

  1. NP_001341945.1 platelet-derived growth factor receptor beta isoform 2: "Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1."[25] Conserved Domains (4) summary: cd05859 Location: 250 → 351 Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR), cd05861 Location: 164 → 248 Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), cl11960 Location: 361 → 459 Ig; Immunoglobulin domain.[25]
  2. NP_001341946.1 platelet-derived growth factor receptor beta isoform 3: "Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1."[25] The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1." Conserved Domains (4) summary: cd05859 Location: 153 → 254 Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR), cd05861 Location: 67 → 151 Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), cl11960 Location: 264 → 362 Ig; Immunoglobulin domain.[25]
  3. NP_002600.1 platelet-derived growth factor receptor beta isoform 1 precursor, Conserved Domains (8) summary: cd05859 Location: 314 → 415 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 → 312 Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), smart00409 Location: 40 → 110 IG; Immunoglobulin, smart00410 Location: 222 → 310 IG_like; Immunoglobulin like, pfam00047 Location: 37 → 114 ig; Immunoglobulin domain, and cl11960 Location: 425 → 523 Ig; Immunoglobulin domain.[25]

Gene ID: 5175 see Carcinoembryonic antigen gene family.

Gene ID: 6405 see Immunoglobulin domain genes.

Gene ID: 7087 see Carcinoembryonic antigen gene family.

Gene ID: 7273 is TTN titin on 2q31.2: "This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma."[26]

  1. NP_001243779.1 titin isoform N2BA: "Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165."[26] Conserved Domains (16) summary: cd00096 Location: 5899 → 5968 Ig; Immunoglobulin domain, cd05747 Location: 33485 → 33576 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 21720 → 21791 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 4678 → 4744 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 20232 → 20312 IG; Immunoglobulin, smart00410 Location: 28207 → 28289, IG_like; Immunoglobulin like, pfam07679 Location: 8888 → 8977 I-set; Immunoglobulin I-set domain, pfam00047 Location: 6824 → 6907 ig; Immunoglobulin domain, pfam13895 Location: 13398 → 13462 Ig_2; Immunoglobulin domain, and cl11960 Location: 24569 → 24642 Ig; Immunoglobulin domain.[26]
  2. NP_001254479.2 titin isoform IC: "Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids."[26] Conserved Domains (17) summary: cd00096 Location: 7340 → 7409 Ig; Immunoglobulin domain, cd05747 Location: 35126 → 35217 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 22567 → 22640 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 4995 → 5061 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 21873 → 21953 IG; Immunoglobulin, smart00410 Location: 29848 → 29930 IG_like; Immunoglobulin like, pfam07679 Location: 9205 → 9294 I-set; Immunoglobulin I-set domain, pfam00047 Location: 7141 → 7224 ig; Immunoglobulin domain, pfam13895 Location: 15039 → 15103 Ig_2; Immunoglobulin domain, and pfam16031 Location: 12286 → 12406 TonB_N; TonB N-terminal region, and cl11960 Location: 26210 → 26283 Ig; Immunoglobulin domain.[26]
  3. NP_003310.4 titin isoform N2-B: "Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165."[26] Conserved Domains (13) summary: cd00096 Location: 24053 → 24120 Ig; Immunoglobulin domain, cd05747 Location: 26061 → 26152 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 14296 → 14367, Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 910 → 976 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 17823 → 17904 IG; Immunoglobulin, smart00410 Location: 20783 → 20865 IG_like; Immunoglobulin like, pfam07679 Location: 6 → 97 I-set; Immunoglobulin I-set domain, pfam13895 Location: 5974 → 6038 Ig_2; Immunoglobulin domain, and cl11960 Location:17145 → 17218 Ig; Immunoglobulin domain.[26]
  4. NP_596869.4 titin isoform N2-A: "Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165."[26] Conserved Domains (16) summary: cd00096 Location: 4972 → 5041 Ig; Immunoglobulin domain, cd05747 Location: 32558 → 32649 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 19999 → 20072 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 3751 → 3817 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 27280 → 27362 IG; Immunoglobulin, smart00410 Location: 19305 → 19385 IG_like; Immunoglobulin like, pfam07679 Location: 7961 → 8050 I-set; Immunoglobulin I-set domain, pfam00047 Location: 5897 → 5980 ig; Immunoglobulin domain, pfam13895 Location: 12471 → 12535 Ig_2; Immunoglobulin domain, and cl11960 Location: 23642 → 23715 Ig; Immunoglobulin domain.[26]
  5. NP_596870.2 titin isoform novex-3: "Transcript Variant: This variant (novex-3) is the shortest transcript and encodes the shortest isoform (novex-3). Its last exon is nearly 8 kb and is not found in the other variants. The novex-3 isoform, which is found in all striated muscle, lacks the PEVK region and has a C-terminal truncation compared to longer isoforms. This variant is supported by data in PMID:11717165."[26] Conserved Domains (6) summary: cd00096 Location: 3521 → 3594 Ig; Immunoglobulin domain, smart00408 Location: 956 → 1022 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 3154 → 3233 IG_like; Immunoglobulin like, pfam07679 Location: 6 → 97 I-set; Immunoglobulin I-set domain, and cl11960 Location: 26 → 97 Ig; Immunoglobulin domain.[26]
  6. NP_597676.3 titin isoform novex-1: "Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165."[26] Conserved Domains (13) summary: cd00096 Location: 24178 → 24245 Ig; Immunoglobulin domain, cd05747 Location: 26186 → 26277 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 14421 → 14492 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 910 → 976, IGc2; Immunoglobulin C-2 Type, smart00409 Location: 16865 → 16945 IG; Immunoglobulin, smart00410 Location: 20908 → 20990 IG_like; Immunoglobulin like, pfam07679 Location: 6 → 97 I-set; Immunoglobulin I-set domain, cd14104 Location: 24878 → 25154 STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin, pfam13895 Location: 6099 → 6163 Ig_2; Immunoglobulin domain, and cl11960 Location: 17270 → 17343 Ig; Immunoglobulin domain.[26]
  7. NP_597681.4 titin isoform novex-2: "Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165."[26] Conserved Domains (13) summary: cd00096 Location: 24245 → 24312 Ig; Immunoglobulin domain, cd05747 Location: 26253 → 26344 Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins, cd05748 Location: 14488 → 14559 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins, smart00408 Location: 910 → 976 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 16932 → 17012 IG; Immunoglobulin, smart00410 Location: 20975 → 21057 IG_like; Immunoglobulin like, pfam07679 Location: 6 → 97 I-set; Immunoglobulin I-set domain, cd14104 Location: 24945 → 25221 STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin, pfam13895 Location: 6166 → 6230 Ig_2; Immunoglobulin domain, and cl11960 Location: 17337 → 17410 Ig; Immunoglobulin domain.[26]
  8. XP_024308867.1 titin isoform X11, Conserved Domains (11) summary: cd05747 Location: 26091 → 26182 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00409 Location: 6004 → 6068 IG; Immunoglobulin, smart00410 Location: 4753 → 4823 IG_like; Immunoglobulin like, pfam07679 Location: 6 → 97 I-set; Immunoglobulin I-set domain, cd05748 Location: 13532 → 13605 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, and cl11960 Location: 21508 → 21581 Ig; Immunoglobulin domain, and cl28434 Location: 2079 → 2169 I-set; Immunoglobulin I-set domain.[26]
  9. XP_024308866.1 titin isoform X9, Conserved Domains (14) summary: cd05747 Location: 32170 → 32261 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00060 Location: 15110 → 15194 FN3; Fibronectin type 3 domain, smart00409 Location: 12083 → 12147 IG; Immunoglobulin, smart00410 Location: 10925 → 10989 IG_like; Immunoglobulin like, pfam07679 Location: 8889 → 8978 I-set; Immunoglobulin I-set domain, cd05748 Location: 19611 → 19684 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 24336 → 24410 Ig; Immunoglobulin domain, and cl28434 Location: 9673 → 9755 I-set; Immunoglobulin I-set domain.[26]
  10. XP_024308865.1 titin isoform X8, Conserved Domains (13) summary: cd05747 Location: 32197 → 32288 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00410 Location: 12110 → 12174 IG_like; Immunoglobulin like, pfam07679 Location: 8889 → 8978 I-set; Immunoglobulin I-set domain, cd05748 Location: 19638 → 19711 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 24363 → 24437 Ig; Immunoglobulin domain, cl28434 Location: 9673 → 9755 I-set; Immunoglobulin I-set domain.[26]
  11. XP_024308864.1 titin isoform X6, Conserved Domains (15) summary: cd05747 Location: 33083 → 33174 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00409 Location: 12996 → 13060 IG; Immunoglobulin, smart00410 Location: 11745 → 11815 IG_like; Immunoglobulin like, pfam07679 Location: 8889 → 8978 I-set; Immunoglobulin I-set domain, cd05748 Location: 20524 → 20597 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 28500 → 28573 Ig; Immunoglobulin domain, and cl28434 Location: 9177 → 9267 I-set; Immunoglobulin I-set domain.[26]
  12. XP_024308862.1 titin isoform X2, Conserved Domains (15) summary: cd05747 Location: 33273 → 33364 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00409 Location: 13186 → 13250 IG; Immunoglobulin, smart00410 Location: 11935 → 12005 IG_like; Immunoglobulin like, pfam07679 Location: 8889 → 8978 I-set; Immunoglobulin I-set domain, cd05748 Location: 20714 → 20787 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 28690 → 28763 Ig; Immunoglobulin domain, and cl28434 Location: 9177 → 9267 I-set; Immunoglobulin I-set domain.[26]
  13. XP_024308863.1 titin isoform X3, Conserved Domains (15) summary: cd05747 Location: 33272 → 33363 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00409 Location: 13185 → 13249 IG; Immunoglobulin, smart00410 Location: 11934 → 12004 IG_like; Immunoglobulin like, pfam07679 Location: 8889 → 8978, I-set; Immunoglobulin I-set domain, cd05748 Location: 20713 → 20786 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 28689 → 28762 Ig; Immunoglobulin domain, and cl28434 Location: 9177 → 9267 I-set; Immunoglobulin I-set domain.[26]
  14. XP_024308868.1 titin isoform X12, Conserved Domains (13) summary: cd05747 Location: 22709 → 22800 Ig_Titin_like; Immunoglobulin (Ig)-like domain of human titin C terminus and similar domains, smart00409 Location: 2622 → 2686 IG; Immunoglobulin, smart00410 Location: 1371 → 1441 IG_like; Immunoglobulin like, pfam07679 Location: 20684 → 20771 I-set; Immunoglobulin I-set domain, cd05748 Location: 10150 → 10223 Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains, cl11960 Location: 13793 → 13866 Ig; Immunoglobulin domain, and cl28434 Location: 1814 → 1897 I-set; Immunoglobulin I-set domain.[26]

Gene ID: 7412 see Carcinoembryonic antigen gene family.

Gene ID: 7441 see Immunoglobulin supergene family.

Gene ID: 8174 see Carcinoembryonic antigen gene family.

Gene ID: 8482 see Immunoglobulin domain genes.

Gene ID: 10288 see Immunoglobulin receptor superfamily genes.

Gene ID: 10507 see Immunoglobulin domain genes.

Gene ID: 10752 see Carcinoembryonic antigen gene family.

Gene ID: 10859 see Immunoglobulin receptor superfamily genes.

Gene ID: 11006 see Immunoglobulin receptor superfamily genes.

Gene ID: 11024 see Immunoglobulin receptor superfamily genes.

Gene ID: 11026 see Immunoglobulin receptor superfamily genes.

Gene ID: 11027 see Immunoglobulin receptor superfamily genes.

Gene ID: 11326 see Immunoglobulin domain genes.

Gene ID: 23547 see Immunoglobulin receptor superfamily genes.

Gene ID: 23705 see Carcinoembryonic antigen gene family.

Gene ID: 26103 see Immunoglobulin domain genes.

Gene ID: 29126 is CD274 CD274 molecule on 9p24.1: "This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants."[27]

  1. NP_001254635.1 programmed cell death 1 ligand 1 isoform b precursor: "Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a."[27] Conserved Domains (1) summary: cl11960 Location: 21 → 106 Ig; Immunoglobulin domain.[27]
  2. NP_001300958.1 programmed cell death 1 ligand 1 isoform c precursor: "Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and novel 3' UTR compared to variant 1. It encodes isoform c which is shorter than and has a distinct C-terminus compared to isoform a."[27] Conserved Domains (2) summary: smart00410 Location: 24 → 130 IG_like; Immunoglobulin like and cl11960 Location: 66 → 114 Ig; Immunoglobulin domain.[27]
  3. NP_054862.1 programmed cell death 1 ligand 1 isoform a precursor: "Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a)."[27] Conserved Domains (1) summary: cl11960 Location: 54 → 117 Ig; Immunoglobulin domain.[27]

Gene ID: 50848 see Carcinoembryonic antigen gene family.

Gene ID: 50937 see Carcinoembryonic antigen gene family.

Gene ID: 57453 see Carcinoembryonic antigen gene family.

Gene ID: 57863 see Carcinoembryonic antigen gene family.

Gene ID: 58494 see Carcinoembryonic antigen gene family.

Gene ID: 79168 see Immunoglobulin domain genes.

Gene ID: 79368 see Immunoglobulin receptor superfamily genes.

Gene ID: 83416 see Immunoglobulin receptor superfamily genes.

Gene ID: 83417 see Immunoglobulin receptor superfamily genes.

Gene ID: 83700 see Carcinoembryonic antigen gene family.

Gene ID: 84868 see Immunoglobulin receptor superfamily genes.

Gene ID: 90273 see Carcinoembryonic antigen gene family.

Gene ID: 90952 see Carcinoembryonic antigen gene family.

Gene ID: 91937 is TIMD4 T cell immunoglobulin and mucin domain containing 4 on 5q33.3.[28]

  1. NP_001140198.1 T-cell immunoglobulin and mucin domain-containing protein 4 isoform 2 precursor: "Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1."[28] smart00410 Location: 27 → 115 IG_like; Immunoglobulin like and pfam07686 Location: 23 → 128 V-set; Immunoglobulin V-set domain.[28]
  2. NP_612388.2 T-cell immunoglobulin and mucin domain-containing protein 4 isoform 1 precursor: "Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)." smart00410 Location: 27 → 115 IG_like; Immunoglobulin like and pfam07686 Location: 23 → 128 V-set; Immunoglobulin V-set domain.[28]

Gene ID: 115350 see Immunoglobulin receptor superfamily genes.

Gene ID: 115352 see Immunoglobulin receptor superfamily genes.

Gene ID: 115653 see Immunoglobulin receptor superfamily genes.

Gene ID: 120425 see Carcinoembryonic antigen gene family.

Gene ID: 125931 see Carcinoembryonic antigen gene family.

Gene ID: 126014 see Immunoglobulin receptor superfamily genes.

Gene ID: 126259 see Immunoglobulin domain genes.

Gene ID: 150084 see Immunoglobulin supergene family.

Gene ID: 199731 see Carcinoembryonic antigen gene family.

Gene ID: 220296 see Carcinoembryonic antigen gene family.

Gene ID: 223117 see Immunoglobulin domain genes.

Gene ID: 253559 see Carcinoembryonic antigen gene family.

Gene ID: 285313 see Immunoglobulin supergene family.

Gene ID: 339398 see Immunoglobulin domain genes.

Gene ID: 340547 see Carcinoembryonic antigen gene family.

Gene ID: 343413 see Immunoglobulin receptor superfamily genes.

Gene ID: 345193 see Immunoglobulin domain genes.

Gene ID: 388364 is TMIGD1 transmembrane and immunoglobulin domain containing 1 on 17q11.2.[29]

  1. NP_001306871.1 transmembrane and immunoglobulin domain-containing protein 1 isoform 2 precursor: "Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1."[29] cd00096 Location: 139 → 209 Ig; Immunoglobulin domain and smart00410 Location: 131 → 212 IG_like; Immunoglobulin like.[29]
  2. NP_996663.1 transmembrane and immunoglobulin domain-containing protein 1 isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longer isoform (1)."[29] smart00410 Location: 131 → 212 IG_like; Immunoglobulin like.[29]

Gene ID: 388551 see Carcinoembryonic antigen gene family.

Gene ID: 391123 is VSIG8 V-set and immunoglobulin domain containing 8 on 1q23.2.[30]

  1. NP_001013683.1 V-set and immunoglobulin domain-containing protein 8 precursor.[30] smart00410 Location: 160 → 256 IG_like; Immunoglobulin like and pfam07686 Location: 35 → 142 V-set; Immunoglobulin V-set domain.[30]

Gene ID: 553128 see Immunoglobulin receptor superfamily genes.

Gene ID: 729767 see Carcinoembryonic antigen gene family.

Hypotheses

  1. Downstream core promoters may work as transcription factors even as their complements or inverses.
  2. In addition to the DNA binding sequences listed above, the transcription factors that can open up and attach through the local epigenome need to be known and specified.
  3. The function of A1BG is the same as other immunoglobulin genes possessing the immunoglobulin domain cl11960 and/or any of three immunoglobulin-like domains: pfam13895, cd05751 and smart00410 in the order and nucleotide sequence: cd05751 Location: 401 → 493, smart00410 Location: 218 → 280, pfam13895 Location: 210 → 301 and cl11960 Location: 28 → 110.

See also

References

  1. ↑ 1.0 1.1 Shennan Lu, Jiyao Wang, Farideh Chitsaz, Myra K Derbyshire, Renata C Geer, Noreen R Gonzales, Marc Gwadz, David I Hurwitz, Gabriele H Marchler, James S Song, Narmada Thanki, Roxanne A Yamashita, Mingzhang Yang, Dachuan Zhang, Chanjuan Zheng, Christopher J Lanczycki, and Aron Marchler-Bauer (8 January 2020). "CDD/SPARCLE: The Conserved Domain Database in 2020". Nucleic Acids Research. 48 (D1): D265–D268. doi:10.1093/nar/gkz991. PMID 31777944. Retrieved 24 June 2020.
  2. ↑ Ivica Letunic and Peer Bork (4 January 2018). "20 years of the SMART protein domain annotation resource". Nucleic Acids Research. 46 (Database issue): D493–D496. doi:10.1093/nar/gkx922. PMID 29040681. Retrieved 24 June 2020.
  3. ↑ 3.0 3.1 3.2 3.3 Noriaki Ishioka, Nobuhiro Takahashi, and Frank W. Putnam (April 1986). "Amino acid sequence of human plasma 𝛂1B-glycoprotein: Homology to the immunoglobulin supergene family" (PDF). Proceedings of the National Academy of Sciences USA. 83 (8): 2363–7. doi:10.1073/pnas.83.8.2363. PMID 3458201. Retrieved 9 March 2020.
  4. ↑ RefSeq (July 2008). "A1BG alpha-1-B glycoprotein [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 17 April 2020.
  5. ↑ NCBI (2 February 2016). "Conserved Protein Domain Family cl11960: Ig Superfamily". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 22 May 2020.
  6. ↑ NCBI (5 August 2015). "Conserved Protein Domain Family pfam13895: Ig_2". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 24 May 2020.
  7. ↑ NCBI (16 August 2016). "Conserved Protein Domain Family cd05751: Ig1_LILR_KIR_like". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 24 May 2020.
  8. ↑ 8.0 8.1 NCBI (16 January 2013). "Conserved Protein Domain Family smart00410: IG_like". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 24 May 2020.
  9. ↑ 9.0 9.1 Ivica Letunic (2019). "IGv Immunoglobulin C-Type". Heidelberg, Germany: European Molecular Biology Laboratory. Retrieved 24 June 2020.
  10. ↑ 10.0 10.1 10.2 10.3 Ivica Letunic (2019). "IGc1 Immunoglobulin C-Type". Heidelberg, Germany: European Molecular Biology Laboratory. Retrieved 24 June 2020.
  11. ↑ 11.0 11.1 Ivica Letunic (2019). "IGc2 Immunoglobulin C-Type". Heidelberg, Germany: European Molecular Biology Laboratory. Retrieved 24 June 2020.
  12. ↑ 12.0 12.1 Ivica Letunic (2019). "IG Immunoglobulin C-Type". Heidelberg, Germany: European Molecular Biology Laboratory. Retrieved 24 June 2020.
  13. ↑ Ivica Letunic (2019). "IG_like Immunoglobulin like". Heidelberg, Germany: European Molecular Biology Laboratory. Retrieved 24 June 2020.
  14. ↑ 14.00 14.01 14.02 14.03 14.04 14.05 14.06 14.07 14.08 14.09 14.10 14.11 14.12 14.13 14.14 14.15 14.16 14.17 14.18 14.19 14.20 14.21 14.22 14.23 14.24 14.25 14.26 14.27 14.28 14.29 14.30 14.31 14.32 14.33 14.34 14.35 14.36 14.37 14.38 14.39 14.40 14.41 14.42 14.43 RefSeq (July 2008). "FGFR1 fibroblast growth factor receptor 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 16 June 2020.
  15. ↑ 15.00 15.01 15.02 15.03 15.04 15.05 15.06 15.07 15.08 15.09 15.10 15.11 15.12 15.13 15.14 15.15 15.16 15.17 RefSeq (August 2017). "FGFR3 fibroblast growth factor receptor 3 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 17 June 2020.
  16. ↑ 16.00 16.01 16.02 16.03 16.04 16.05 16.06 16.07 16.08 16.09 16.10 16.11 16.12 16.13 16.14 16.15 16.16 16.17 16.18 16.19 16.20 16.21 16.22 16.23 16.24 16.25 16.26 16.27 16.28 16.29 16.30 16.31 16.32 RefSeq (January 2009). "FGFR2 fibroblast growth factor receptor 2 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 15 June 2020.
  17. ↑ 17.0 17.1 17.2 17.3 17.4 17.5 17.6 17.7 17.8 17.9 RefSeq (May 2009). "FLT1 fms related receptor tyrosine kinase 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 19 June 2020.
  18. ↑ 18.00 18.01 18.02 18.03 18.04 18.05 18.06 18.07 18.08 18.09 18.10 18.11 18.12 18.13 18.14 18.15 18.16 18.17 18.18 18.19 18.20 18.21 18.22 18.23 18.24 18.25 18.26 18.27 18.28 18.29 18.30 18.31 18.32 18.33 18.34 18.35 18.36 18.37 RefSeq (April 2016). "NRG1 neuregulin 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 19 June 2020.
  19. ↑ 19.0 19.1 19.2 19.3 19.4 19.5 RefSeq (May 2011). "IL6R interleukin 6 receptor [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 21 June 2020.
  20. ↑ 20.0 20.1 RefSeq (May 2009). "KDR kinase insert domain receptor [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 21 June 2020.
  21. ↑ 21.0 21.1 21.2 21.3 21.4 21.5 21.6 21.7 21.8 RefSeq (May 2020). "KIT KIT proto-oncogene, receptor tyrosine kinase [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 14 June 2020.
  22. ↑ 22.00 22.01 22.02 22.03 22.04 22.05 22.06 22.07 22.08 22.09 22.10 22.11 22.12 22.13 22.14 22.15 22.16 22.17 22.18 22.19 22.20 22.21 22.22 22.23 RefSeq (July 2011). "NTRK3 neurotrophic receptor tyrosine kinase 3 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 23 June 2020.
  23. ↑ 23.0 23.1 23.2 RefSeq (July 2008). "PDCD1 programmed cell death 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 21 June 2020.
  24. ↑ 24.0 24.1 24.2 24.3 24.4 24.5 24.6 24.7 24.8 RefSeq (March 2012). "PDGFRA platelet derived growth factor receptor alpha [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 23 June 2020.
  25. ↑ 25.0 25.1 25.2 25.3 25.4 25.5 RefSeq (August 2017). "PDGFRB platelet derived growth factor receptor beta [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 23 June 2020.
  26. ↑ 26.00 26.01 26.02 26.03 26.04 26.05 26.06 26.07 26.08 26.09 26.10 26.11 26.12 26.13 26.14 26.15 26.16 26.17 26.18 26.19 26.20 26.21 RefSeq (February 2012). "TTN titin [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 19 June 2020.
  27. ↑ 27.0 27.1 27.2 27.3 27.4 27.5 27.6 RefSeq (September 2015). "CD274 CD274 molecule [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 19 June 2020.
  28. ↑ 28.0 28.1 28.2 28.3 HGNC (20 April 2020). "TIMD4 T cell immunoglobulin and mucin domain containing 4 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 25 May 2020.
  29. ↑ 29.0 29.1 29.2 29.3 29.4 RefSeq (July 2008). "TMIGD1 transmembrane and immunoglobulin domain containing 1 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 16 April 2020.
  30. ↑ 30.0 30.1 30.2 RefSeq (13 March 2020). "VSIG8 V-set and immunoglobulin domain containing 8 [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 16 April 2020.

External links

{{Phosphate biochemistry}}Template:Sisterlinks

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