Immunoglobulin like domain smart00410

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

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)."[1]

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."[2]

"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."[1]

"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."[1]

"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."[1]

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."[3]

"This domain [pfam13895] contains immunoglobulin-like domains."[4]

"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."[5]

"IG domains [smart00410] that cannot be classified into one of IGv1, IGc1, IGc2, IG."[6]

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: 177 see Major histocompatibility complex class III gene family.

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."[7]

  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."[7] Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 β†’ 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 270 β†’ 359 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  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."[7] Conserved Domains (7) summary: cd04973 Location: 32 β†’ 110 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 262 β†’ 351 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 155 β†’ 239 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 254 β†’ 350 IG_like; Immunoglobulin like, pfam07679 Location: 152 β†’ 239 I-set; Immunoglobulin I-set domain.[7]
  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"[7] Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 268 β†’ 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like, pfam07679 Location: 158 β†’ 245 I-set; Immunoglobulin I-set domain.[7]
  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."[7] Conserved Domains (6) summary: cd04974 Location: 181 β†’ 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 β†’ 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 β†’ 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 β†’ 158 I-set; Immunoglobulin I-set domain.[7]
  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."[7] Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 β†’ 390 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 β†’ 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 β†’ 389 IG_like; Immunoglobulin like, pfam07679 Location: 191 β†’ 278 I-set; Immunoglobulin I-set domain.[7]
  6. NP_001341296.1 fibroblast growth factor receptor 1 isoform 15 precursor, Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location:161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357, Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  7. NP_001341297.1 fibroblast growth factor receptor 1 isoform 16 precursor, Conserved Domains (3) summary: cd05857 Location: 72 β†’ 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 β†’ 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  8. NP_001341298.1 fibroblast growth factor receptor 1 isoform 17 precursor, Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  9. NP_001341299.1 fibroblast growth factor receptor 1 isoform 18 precursor, Conserved Domains (3) summary: cd05857 Location: 72 β†’ 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 β†’ 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  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."[7] Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 268 β†’ 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like, pfam07679 Location: 158 β†’ 245 I-set; Immunoglobulin I-set domain.[7]
  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."[7] Conserved Domains (6) summary: cd04974 Location: 181 β†’ 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 β†’ 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 β†’ 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 β†’ 158 I-set; Immunoglobulin I-set domain.[7]
  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."[7] Conserved Domains (6) summary: cd04974 Location: 179 β†’ 268 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 72 β†’ 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 171 β†’ 267 IG_like; Immunoglobulin like, pfam07679 Location: 69 β†’ 156 I-set; Immunoglobulin I-set domain.[7]
  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."[7] Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 β†’ 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 β†’ 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 β†’ 358 IG_like; Immunoglobulin like, pfam07679 Location: 160 β†’ 247 I-set; Immunoglobulin I-set domain.[7]
  14. XP_006716373.1 fibroblast growth factor receptor 1 isoform X18 Conserved Domains (6) summary: cd04974 Location: 181 β†’ 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 β†’ 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 β†’ 269 IG_like; Immunoglobulin like, and pfam07679 Location: 71 β†’ 158 I-set; Immunoglobulin I-set domain.[7]
  15. XP_006716366.1 fibroblast growth factor receptor 1 isoform X8, Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 β†’ 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 β†’ 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 β†’ 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 β†’ 247 I-set; Immunoglobulin I-set domain.[7]
  16. XP_016868710.1 fibroblast growth factor receptor 1 isoform X8, Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 β†’ 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 β†’ 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 β†’ 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 β†’ 247 I-set; Immunoglobulin I-set domain.[7]
  17. XP_006716370.1 fibroblast growth factor receptor 1 isoform X9, Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  18. XP_006716367.1 fibroblast growth factor receptor 1 isoform X8 Conserved Domains (7) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 270 β†’ 359 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 163 β†’ 247 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 262 β†’ 358 IG_like; Immunoglobulin like, and pfam07679 Location: 160 β†’ 247 I-set; Immunoglobulin I-set domain.[7]
  19. XP_006716377.1 fibroblast growth factor receptor 1 isoform X19, Conserved Domains (3) summary: cd05857 Location: 72 β†’ 156 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 179 β†’ 268 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  20. XP_006716374.1 fibroblast growth factor receptor 1 isoform X18, Conserved Domains (6) summary: cd04974 Location: 181 β†’ 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 β†’ 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 β†’ 269 IG_like; Immunoglobulin like, and pfam07679 Location: 71 β†’ 158 I-set; Immunoglobulin I-set domain.[7]
  21. XP_011542747.1 fibroblast growth factor receptor 1 isoform X3, Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 β†’ 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 β†’ 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 β†’ 391 IG_like; Immunoglobulin like, pfam07679 Location: 193 β†’ 280 I-set; Immunoglobulin I-set domain.[7]
  22. XP_011542745.1 fibroblast growth factor receptor 1 isoform X1, Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 β†’ 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 β†’ 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 β†’ 391 IG_like; Immunoglobulin like, pfam07679 Location: 193 β†’ 280 I-set; Immunoglobulin I-set domain.[7]
  23. XP_011542746.1 fibroblast growth factor receptor 1 isoform X2, Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 β†’ 390 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 β†’ 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 β†’ 389 IG_like; Immunoglobulin like, pfam07679 Location: 191 β†’ 278 I-set; Immunoglobulin I-set domain.[7]
  24. XP_011542751.1 fibroblast growth factor receptor 1 isoform X14, Conserved Domains (6) summary: cd04974 Location: 212 β†’ 301 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 105 β†’ 189 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 204 β†’ 300 IG_like; Immunoglobulin like, pfam07679 Location: 102 β†’ 189 I-set; Immunoglobulin I-set domain.[7]
  25. XP_011542750.1 fibroblast growth factor receptor 1 isoform X13, Conserved Domains (6) summary: cd04974 Location: 214 β†’ 303 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 107 β†’ 191 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 206 β†’ 302 IG_like; Immunoglobulin like, pfam07679 Location: 104 β†’ 191 I-set; Immunoglobulin I-set domain.[7]
  26. XP_006716375.1 fibroblast growth factor receptor 1 isoform X18, Conserved Domains (6) summary: cd04974 Location: 181 β†’ 270 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 74 β†’ 158 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 173 β†’ 269 IG_like; Immunoglobulin like, pfam07679 Location: 71 β†’ 158 I-set; Immunoglobulin I-set domain.[7]
  27. XP_011542753.1 fibroblast growth factor receptor 1 isoform X20, Conserved Domains (6) summary: cd04974 Location: 173 β†’ 262 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 66 β†’ 150 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 165 β†’ 261 IG_like; Immunoglobulin like, pfam07679 Location: 63 β†’ 150 I-set; Immunoglobulin I-set domain.[7]
  28. XP_024302865.1 fibroblast growth factor receptor 1 isoform X11, Conserved Domains (4) summary: cd04973 Location: 32 β†’ 110 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 155 β†’ 239 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 262 β†’ 351 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  29. XP_016868713.1 fibroblast growth factor receptor 1 isoform X12, Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  30. XP_011542749.1 fibroblast growth factor receptor 1 isoform X6, Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 β†’ 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 β†’ 280, Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 β†’ 391 IG_like; Immunoglobulin like, and pfam07679 Location:193 β†’ 280 I-set; Immunoglobulin I-set domain.[7]
  31. XP_011542748.1 fibroblast growth factor receptor 1 isoform X5, Conserved Domains (7) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 303 β†’ 392 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 196 β†’ 280 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 295 β†’ 391 IG_like; Immunoglobulin like, and pfam07679 Location: 193 β†’ 280 I-set; Immunoglobulin I-set domain.[7]
  32. XP_011542752.1 fibroblast growth factor receptor 1 isoform X15, Conserved Domains (6) summary: cd04974 Location: 212 β†’ 301 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 105 β†’ 189 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 204 β†’ 300 IG_like; Immunoglobulin like, and pfam07679 Location: 102 β†’ 189 I-set; Immunoglobulin I-set domain.[7]
  33. XP_016868714.1 fibroblast growth factor receptor 1 isoform X12, Conserved Domains (4) summary: cd04973 Location: 40 β†’ 118 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  34. XP_011542754.1 fibroblast growth factor receptor 1 isoform X24, Conserved Domains (5) summary: cd04973 Location: 73 β†’ 151 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 301 β†’ 387 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 194 β†’ 278 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 293 β†’ 387 IG_like; Immunoglobulin like, and pfam07679 Location: 191 β†’ 278 I-set; Immunoglobulin I-set domain.[7]

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."[8]

  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."[8] Conserved Domains (7) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like.[8]
  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)."[8] Conserved Domains (7) summary: cd04974 Location: 268 β†’ 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 355 IG_like; Immunoglobulin like.[8]
  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."[8] Conserved Domains (4) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), and smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type.[8]
  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."[8] Conserved Domains (4) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), and smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type.[8]
  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."[8] Conserved Domains (6) summary: cd04974 Location: 268 β†’ 357 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, and smart00409 Location: 260 β†’ 289 IG; Immunoglobulin.[8]
  6. XP_006713931.1 fibroblast growth factor receptor 3 isoform X1, Conserved Domains (7) summary: cd04974 Location: 268 β†’ 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 355 IG_like; Immunoglobulin like.[8]
  7. XP_006713932.1 fibroblast growth factor receptor 3 isoform X2 Conserved Domains (7) summary: cd04974 Location: 268 β†’ 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 355 IG_like; Immunoglobulin like.[8]
  8. XP_006713933.1 fibroblast growth factor receptor 3 isoform X3, Conserved Domains (7) summary: cd04974 Location: 268 β†’ 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and 'smart00410 Location: 260 β†’ 355 IG_like; Immunoglobulin like.[8]
  9. XP_006713934.1 fibroblast growth factor receptor 3 isoform X4 Conserved Domains (7) summary: cd04974 Location: 268 β†’ 356 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 355 IG_like; Immunoglobulin like.[8]
  10. XP_011511722.1 fibroblast growth factor receptor 3 isoform X5, Conserved Domains (7) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like.[8]
  11. XP_011511724.1 fibroblast growth factor receptor 3 isoform X6, Conserved Domains (7) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like.[8]
  12. XP_006713936.1 fibroblast growth factor receptor 3 isoform X7, Conserved Domains (7) summary: cd05857 Location: 161 β†’ 245 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 268 β†’ 357 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00408 Location: 53 β†’ 110 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 54 β†’ 125 IG; Immunoglobulin, and smart00410 Location: 260 β†’ 356 IG_like; Immunoglobulin like.[8]

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."[9]

  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."[9] Conserved Domains (7) summary: cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 271 β†’ 360 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 174 β†’ 248 IG; Immunoglobulin, and smart00410 Location: 263 β†’ 359 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 271 β†’ 358 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 263 β†’ 357 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (5) summary: cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 47 β†’ 124 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary: cd05857 Location: 75 β†’ 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 182 β†’ 271 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 85 β†’ 159 IG; Immunoglobulin, and smart00410 Location: 174 β†’ 270 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary: cd05857 Location: 49 β†’ 133 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 156 β†’ 245 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 59 β†’ 133 IG; Immunoglobulin, and smart00410 Location: 148 β†’ 244 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary: cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 47 β†’ 124 IG_like; Immunoglobulin like, and cl11960 Location: 271 β†’ 363 Ig; Immunoglobulin domain.[9]
  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."[9] Conserved Domains (3) summary: cd05857 Location: 49 β†’ 133 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 156 β†’ 245 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[9]
  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."[9] Conserved Domains (6) summary: cd04974 Location: 182 β†’ 269 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 75 β†’ 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00409 Location: 85 β†’ 159 IG; Immunoglobulin, and smart00410 Location: 174 β†’ 268 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (2) summary: cd05858 Location: 43 β†’ 132 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[9]
  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."[9] Conserved Domains (7) summary: cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 271 β†’ 360 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 174 β†’ 248 IG; Immunoglobulin, and smart00410 Location: 263 β†’ 359 IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary: cd04973 Location: 47 β†’ 124 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 271 β†’ 358 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR) cd05857 Location: 164 β†’ 248 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, and smart00410 Location: 263 β†’ 357IG_like; Immunoglobulin like.[9]
  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."[9] Conserved Domains (6) summary: cd05857 Location: 75 β†’ 159 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 182 β†’ 271 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 85 β†’ 159 IG; Immunoglobulin, and smart00410 Location: 174 β†’ 270 IG_like; Immunoglobulin like.[9]
  13. XP_016871410.1 fibroblast growth factor receptor 2 isoform X4, Conserved Domains (7) summary: cd04973 Location: 66 β†’ 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 β†’ 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 290 β†’ 379 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2), smart00409 Location: 193 β†’ 267 IG; Immunoglobulin, and smart00410 Location: 282 β†’ 378 IG_like; Immunoglobulin like.[9]
  14. XP_006717773.1 fibroblast growth factor receptor 2 isoform X2, Conserved Domains (6) summary: cd04973 Location: 66 β†’ 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 290 β†’ 377 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 β†’ 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 282 β†’ 376 IG_like; Immunoglobulin like.[9]
  15. XP_006717771.1 fibroblast growth factor receptor 2 isoform X1, Conserved Domains (6) summary: cd04973 Location: 66 β†’ 143 Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd04974 Location: 290 β†’ 377 Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR), cd05857 Location: 183 β†’ 267 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, smart00410 Location: 282 β†’ 376 IG_like; Immunoglobulin like.[9]
  16. XP_024303657.1 fibroblast growth factor receptor 2 isoform X7, Conserved Domains (3) summary: cd05857 Location: 94 β†’ 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 201 β†’ 290 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[9]
  17. XP_024303656.1 fibroblast growth factor receptor 2 isoform X6, Conserved Domains (3) summary: cd05857 Location: 94 β†’ 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cl11960 Location: 201 β†’ 288 Ig; Immunoglobulin domain.[9]
  18. XP_024303658.1 fibroblast growth factor receptor 2 isoform X8, Conserved Domains (3) summary: cd05857 Location: 94 β†’ 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cl11960 Location: 201 β†’ 288 Ig; Immunoglobulin domain.[9]
  19. XP_024303659.1 fibroblast growth factor receptor 2 isoform X9, Conserved Domains (3) summary: cd05857 Location: 68 β†’ 152 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor and cl11960 Location: 175 β†’ 262 Ig; Immunoglobulin domain.[9]
  20. XP_024303655.1 fibroblast growth factor receptor 2 isoform X5, Conserved Domains (3) summary: cd05857 Location: 94 β†’ 178 Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor, cd05858 Location: 201 β†’ 290 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[9]

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)."[10]

  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."[10] Conserved Domains (4) summary: cd05895 Location: 32 β†’ 106 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 22 β†’ 108 IG_like; Immunoglobulin like.[10]
  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."[10]
  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."[10] Conserved Domains (4) summary: smart00410 Location: 22 β†’ 108 IG_like; Immunoglobulin like.[10]
  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."[10] Conserved Domains (4) summary: cd05895 Location: 32 β†’ 106 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 22 β†’ 108 IG_like; Immunoglobulin like.[10]
  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."[10] Conserved Domains (2) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[10]
  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."[10] Conserved Domains (3) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[10]
  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 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[10]
  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."[10] Conserved Domains (1) summary: cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[10]
  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."[10]
  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."[10]
  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."[10]
  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."[10]
  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."[10]
  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.[10]
  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."[10]
  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."[10] Conserved Domains (2) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[10]
  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)."[10] Conserved Domains (4) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like.[10]
  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."[10] Conserved Domains (4) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like.[10]
  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."[10] Conserved Domains (3) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[10]
  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."[10]
  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."[10] Conserved Domains (3) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[10]
  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."[10] Conserved Domains (2) summary: cd05895 Location: 268 β†’ 342 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[10]
  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."[10] Conserved Domains (4) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like.[10]
  24. XP_011542814.1 pro-neuregulin-1, membrane-bound isoform isoform X8, Conserved Domains (4) summary: cd05895 Location: 60 β†’ 134 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1 and smart00410 Location: 50 β†’ 136 IG_like; Immunoglobulin like.[10]

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."[11]

  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)."[11] Conserved Domains (6) summary: cd00096 Location: 426 β†’ 505 Ig; Immunoglobulin domain, cd05860 Location: 311 β†’ 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 β†’ 305 ig; Immunoglobulin domain.[11]
  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)."[11] Conserved Domains (6) summary: cd00096 Location:426 β†’ 505, Ig; Immunoglobulin domain, cd05860 Location: 311 β†’ 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 β†’ 305 ig; Immunoglobulin domain.[11]
  3. XP_005265797.1 mast/stem cell growth factor receptor Kit isoform X1 Conserved Domains (6) summary: cd00096 Location: 427 β†’ 506 Ig; Immunoglobulin domain, cd05860 Location: 312 β†’ 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 308 IG_like; Immunoglobulin like, and pfam00047 Location: 216 β†’ 306 ig; Immunoglobulin domain.[11]
  4. XP_005265798.1 mast/stem cell growth factor receptor Kit isoform X2 Conserved Domains (6) summary: cd00096 Location: 427 β†’ 506 Ig; Immunoglobulin domain, cd05860 Location: 312 β†’ 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 308 IG_like; Immunoglobulin like, pfam00047 Location: 216 β†’ 306 ig; Immunoglobulin domain.[11]
  5. XP_005265799.1 mast/stem cell growth factor receptor Kit isoform X4 Conserved Domains (6) summary: cd00096 Location: 427 β†’ 506 Ig; Immunoglobulin domain, cd05860 Location: 312 β†’ 412 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 308 IG_like; Immunoglobulin like, and pfam00047 Location: 216 β†’ 306 ig; Immunoglobulin domain.[11]
  6. XP_016863669.1 mast/stem cell growth factor receptor Kit isoform X6 Conserved Domains (6) summary: cd00096 Location: 426 β†’ 505 Ig; Immunoglobulin domain, cd05860 Location: 311 β†’ 411 Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR), smart00410 Location: 220 β†’ 307 IG_like; Immunoglobulin like, and pfam00047 Location: 216 β†’ 305 ig; Immunoglobulin domain.[11]

Gene ID: 91937 is TIMD4 T cell immunoglobulin and mucin domain containing 4 on 5q33.3.[12]

  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."[12] smart00410 Location: 27 β†’ 115 IG_like; Immunoglobulin like and pfam07686 Location: 23 β†’ 128 V-set; Immunoglobulin V-set domain.[12]
  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 β†’ 115 IG_like; Immunoglobulin like and pfam07686 Location: 23 β†’ 128 V-set; Immunoglobulin V-set domain.[12]

Gene ID: 388364 is TMIGD1 transmembrane and immunoglobulin domain containing 1 on 17q11.2.[13]

  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."[13] cd00096 Location: 139 β†’ 209 Ig; Immunoglobulin domain and smart00410 Location: 131 β†’ 212 IG_like; Immunoglobulin like.[13]
  2. NP_996663.1 transmembrane and immunoglobulin domain-containing protein 1 isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longer isoform (1)."[13] smart00410 Location: 131 β†’ 212 IG_like; Immunoglobulin like.[13]

Gene ID: 391123 is VSIG8 V-set and immunoglobulin domain containing 8 on 1q23.2.[14]

  1. NP_001013683.1 V-set and immunoglobulin domain-containing protein 8 precursor.[14] smart00410 Location: 160 β†’ 256 IG_like; Immunoglobulin like and pfam07686 Location: 35 β†’ 142 V-set; Immunoglobulin V-set domain.[14]

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 β†’ 493, smart00410 Location: 218 β†’ 280, pfam13895 Location: 210 β†’ 301 and cl11960 Location: 28 β†’ 110.

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13 7.14 7.15 7.16 7.17 7.18 7.19 7.20 7.21 7.22 7.23 7.24 7.25 7.26 7.27 7.28 7.29 7.30 7.31 7.32 7.33 7.34 7.35 7.36 7.37 7.38 7.39 7.40 7.41 7.42 7.43 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.
  8. ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 8.12 8.13 8.14 8.15 8.16 8.17 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.
  9. ↑ 9.00 9.01 9.02 9.03 9.04 9.05 9.06 9.07 9.08 9.09 9.10 9.11 9.12 9.13 9.14 9.15 9.16 9.17 9.18 9.19 9.20 9.21 9.22 9.23 9.24 9.25 9.26 9.27 9.28 9.29 9.30 9.31 9.32 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.
  10. ↑ 10.00 10.01 10.02 10.03 10.04 10.05 10.06 10.07 10.08 10.09 10.10 10.11 10.12 10.13 10.14 10.15 10.16 10.17 10.18 10.19 10.20 10.21 10.22 10.23 10.24 10.25 10.26 10.27 10.28 10.29 10.30 10.31 10.32 10.33 10.34 10.35 10.36 10.37 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.
  11. ↑ 11.0 11.1 11.2 11.3 11.4 11.5 11.6 11.7 11.8 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.
  12. ↑ 12.0 12.1 12.2 12.3 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.
  13. ↑ 13.0 13.1 13.2 13.3 13.4 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.
  14. ↑ 14.0 14.1 14.2 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

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