Immunoglobulin domain cl11960

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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]

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)."[2]

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."[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."[2]

"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."[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."[2]

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."[4]

Carcinoembryonic antigen gene family

Immunoglobulin superfamily genes

Major histocompatibility complex genes

Class I

Class II

Class III

Immunoglobulin domain genes

Immunoglobulin receptor superfamily

Genes having immunoglobulin domain cl11960

Number of genes = 308 [91]:

  1. Carcinoembryonic antigen gene family [32],
  2. Immunoglobulin domain genes [17],
  3. Immunoglobulin like domain cd05751 [6]
  4. Immunoglobulin like domain pfam13895 [5],
  5. Immunoglobulin supergene family [4],
  6. Immunoglobulin superfamily genes [18]
  7. Major histocompatibility complex class I gene family [6],
  8. Major histocompatibility complex class II gene family [2],
  9. Major histocompatibility complex class III gene family [1],

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 superfamily genes.

Gene ID: 696 see Major histocompatibility complex class I gene family.

Gene ID: 910 see Major histocompatibility complex class I gene family.

Gene ID: 913 see Major histocompatibility complex class I gene family.

Gene ID: 915 see Immunoglobulin domain genes.

Gene ID: 920 is CD4 CD4 molecule on 12p13.31: "This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene."[5]

  1. NP_000607.1 T-cell surface glycoprotein CD4 isoform 1 precursor: "Transcript Variant: This variant (1) encodes the longest isoform (1) including a signal peptide and a mature peptide."[5] Conserved Domains (5) summary: cd07690 Location: 28 β†’ 121 Ig1_CD4; First immunoglobulin (Ig) domain of CD4 and cd07694 Location: 123 β†’ 204 Ig2_CD4; Second immunoglobulin (Ig) domain of CD4 and pfam05790 Location: 317 β†’ 389 C2-set; Immunoglobulin C2-set domain.[5]
  2. NP_001181943.1 T-cell surface glycoprotein CD4 isoform 2: "Transcript Variant: This variant (2) uses an alternate splice site, lacks two consecutive exons and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1."[5] Conserved Domains (4) summary: pfam05790 Location: 138 β†’ 210 C2-set; Immunoglobulin C2-set domain.[5]
  3. NP_001181944.1 T-cell surface glycoprotein CD4 isoform 3: "Transcript Variant: This variant (3) uses an alternate splice site, lacks two consecutive exons and initiates translation from a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode isoform 3, which has a shorter N-terminus, compared to isoform 1."[5] Conserved Domains (4) summary: pfam05790 Location: 44 β†’ 116 C2-set; Immunoglobulin C2-set domain and cl11960 Location: 1 β†’ 43 Ig; Immunoglobulin domain.[5]
  4. NP_001181945.1 T-cell surface glycoprotein CD4 isoform 3: "Transcript Variant: This variant (4) lacks two consecutive exons and initiates translation from a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode isoform 3, which has a shorter N-terminus, compared to isoform 1."[5] Conserved Domains (4) summary: pfam05790 Location: 44 β†’ 116 C2-set; Immunoglobulin C2-set domain and cl11960 Location: 1 β†’ 43 Ig; Immunoglobulin domain.[5]
  5. NP_001181946.1 T-cell surface glycoprotein CD4 isoform 3: "Transcript Variant: This variant (5) uses an alternate splice site, lacks two consecutive exons and initiates translation from a downstream, in-frame start codon, compared to variant 1. Variants 3, 4 and 5 encode isoform 3, which has a shorter N-terminus, compared to isoform 1."[5] Conserved Domains (4) summary: pfam05790 Location: 44 β†’ 116 C2-set; Immunoglobulin C2-set domain and cl11960 Location: 1 β†’ 43 Ig; Immunoglobulin domain.[5]

Gene ID: 924 see Immunoglobulin superfamily genes.

Gene ID: 930 is CD19 CD19 molecule on 16p11.2: "Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation."[6]

  1. NP_001171569.1 B-lymphocyte antigen CD19 isoform 1 precursor: "Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)."[6] Conserved Domains (2) summary: smart00410 Location: 23 β†’ 115 IG_like; Immunoglobulin like and cl11960 Location: 22 β†’ 115 Ig; Immunoglobulin domain.[6]
  2. NP_001761.3 B-lymphocyte antigen CD19 isoform 2 precursor: "Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1."[6] Conserved Domains (2) summary: smart00410 Location: 185 β†’ 274 IG_like; Immunoglobulin like and cl11960 Location: 22 β†’ 116 Ig; Immunoglobulin domain.[6]
  3. XP_006721166.1 B-lymphocyte antigen CD19 isoform X1, Conserved Domains (2) summary: smart00410 Location: 96 β†’ 185 IG_like; Immunoglobulin like and cl11960 Location: 99 β†’ 173 Ig; Immunoglobulin domain.[6]
  4. XP_011544283.1 B-lymphocyte antigen CD19 isoform X3, Conserved Domains (2) summary: smart00410 Location: 23 β†’ 115 IG_like; Immunoglobulin like and cl11960 Location: 22 β†’ 115 Ig; Immunoglobulin domain.

Gene ID: 933 see Carcinoembryonic antigen gene family.

Gene ID: 940

Gene ID: 941 see Immunoglobulin like domain smart00410.

Gene ID: 942 see Immunoglobulin like domain pfam13895.

Gene ID: 945 see Immunoglobulin like domain smart00410.

Gene ID: 946

Gene ID: 1048 see Carcinoembryonic antigen gene family.

Gene ID: 1087 see Carcinoembryonic antigen gene family.

Gene ID: 1088 see Carcinoembryonic antigen gene family.

Gene ID: 1272 see Immunoglobulin superfamily genes

Gene ID: 1630 see Immunoglobulin receptor superfamily genes.

Gene ID: 1826 see Carcinoembryonic antigen gene family.

Gene ID: 2204 see Immunoglobulin like domain cd05751.

Gene ID: 2217 see Major histocompatibility complex class I gene family.

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."[7]

  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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).[7]
  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."[7] 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.[7]
  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."[7] Conserved Domains (2) summary: cd05858 Location: 43 β†’ 132 Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2).[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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."[7] 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.[7]
  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.[7]
  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.[7]
  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.[7]
  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).[7]
  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.[7]
  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.[7]
  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.[7]
  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).[7]

Gene ID: 2264

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."[8]

  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."[8] Conserved Domains (5) summary: cd07702 Location: 353 β†’ 424 Ig_VEGFR-1; Immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00409 Location: 143 β†’ 219 IG; Immunoglobulin, smart00410 Location: 568 β†’ 640 IG_like; Immunoglobulin like, pfam13927 Location: 427 β†’ 539 Ig_3; Immunoglobulin domain, and cl11960 Location: 245 β†’ 327 Ig; Immunoglobulin domain.[8]
  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."[8] Conserved Domains (5) summary: cd05742 Location: 245 β†’ 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 β†’ 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 569 β†’ 640 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 237 β†’ 328 IG_like; Immunoglobulin like, and cl11960 Location: 671 β†’ 708 Ig; Immunoglobulin domain.[8]
  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."[8] Conserved Domains (4) summary: cd05742 Location: 245 β†’ 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 β†’ 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00410 Location: 237 β†’ 328 IG_like; Immunoglobulin like, and cl11960 Location: 439 β†’ 466 Ig; Immunoglobulin domain.[8]
  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."[8] Conserved Domains (8) summary: cd05742 Location: 245 β†’ 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 β†’ 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 676 β†’ 738 IGc2; Immunoglobulin C-2 Type, smart00409 Location: 568 β†’ 640 IG; Immunoglobulin, smart00410 Location: 237 β†’ 328 IG_like; Immunoglobulin like, and pfam07679 Location: 661 β†’ 748 I-set; Immunoglobulin I-set domain.[8]
  5. XP_011533316.1 vascular endothelial growth factor receptor 1 isoform X2, Conserved Domains (5) summary: cd05742 Location: 245 β†’ 327 Ig1_VEGFR_like; First immunoglobulin (Ig)-like domain of vascular endothelial growth factor (VEGF) receptor (R) and similar proteins, cd07702 Location: 353 β†’ 424 Ig2_VEGFR-1; Second immunoglobulin (Ig)-like domain of vascular endothelial growth factor receptor 1 (VEGFR-1), smart00408 Location: 569 β†’ 640 IGc2; Immunoglobulin C-2 Type, smart00410 Location: 237 β†’ 328 IG_like; Immunoglobulin like, and cl11960 Location: 660 β†’ 720 Ig; Immunoglobulin domain.[8]

Gene ID: 2324 see Immunoglobulin like domain pfam13895.

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)."[9]

  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."[9] 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.[9]
  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."[9]
  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."[9] Conserved Domains (4) summary: smart00410 Location: 22 β†’ 108 IG_like; Immunoglobulin like.[9]
  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."[9] 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.[9]
  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."[9] Conserved Domains (2) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[9]
  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."[9] Conserved Domains (3) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[9]
  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.[9]
  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."[9] Conserved Domains (1) summary: cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[9]
  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."[9]
  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."[9]
  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."[9]
  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."[9]
  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."[9]
  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.[9]
  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."[9]
  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."[9] Conserved Domains (2) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[9]
  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)."[9] 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.[9]
  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."[9] 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.[9]
  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."[9] Conserved Domains (3) summary: smart00410 Location: 43 β†’ 129 IG_like; Immunoglobulin like and cl11960 Location: 53 β†’ 127 Ig; Immunoglobulin domain.[9]
  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."[9]
  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."[9] Conserved Domains (3) summary: cd05895 Location: 53 β†’ 127 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[9]
  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."[9] Conserved Domains (2) summary: cd05895 Location: 268 β†’ 342 Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1.[9]
  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."[9] 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.[9]
  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: 3112 see Major histocompatibility complex class II gene family.

Gene ID: 3123 see Major histocompatibility complex class II gene family.

Gene ID: 3140 see Major histocompatibility complex class I gene family.

Gene ID: 3321 see Immunoglobulin superfamily genes.

Gene ID: 3339 see Immunoglobulin like domain pfam13895.

Gene ID: 3383 see Carcinoembryonic antigen gene family.

Gene ID: 3385 see Carcinoembryonic antigen gene family.

Gene ID: 3386 see Carcinoembryonic antigen gene family.

Gene ID: 3547 see Immunoglobulin superfamily genes.

Gene ID: 3554

Gene ID: 3556

Gene ID: 3590

Gene ID: 3791 see Immunoglobulin like domain pfam13895.

Gene ID: 3802 see Immunoglobulin receptor superfamily genes.

Gene ID: 3803 see Immunoglobulin receptor superfamily genes.

Gene ID: 3804 see Immunoglobulin receptor superfamily genes.

Gene ID: 3805 see Immunoglobulin receptor superfamily genes.

Gene ID: 3806 see Immunoglobulin receptor superfamily genes.

Gene ID: 3808 see Immunoglobulin receptor superfamily genes.

Gene ID: 3809 see Immunoglobulin receptor superfamily genes.

Gene ID: 3810 see Immunoglobulin receptor superfamily genes.

Gene ID: 3811 see Immunoglobulin receptor superfamily genes.

Gene ID: 3812 see Immunoglobulin receptor superfamily genes.

Gene ID: 3813 see Immunoglobulin receptor superfamily genes.

Gene ID: 3897 see Carcinoembryonic antigen gene family.

Gene ID: 3902

Gene ID: 3903 see Immunoglobulin receptor superfamily genes.

Gene ID: 3904 see Immunoglobulin receptor superfamily genes.

Gene ID: 4045

Gene ID: 4059 see Carcinoembryonic antigen gene family.

Gene ID: 4099

Gene ID: 4162 see Carcinoembryonic antigen gene family.

Gene ID: 4345

Gene ID: 4593

Gene ID: 4604

Gene ID: 4606

Gene ID: 4607

Gene ID: 4608

Gene ID: 4638

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: 4868

Gene ID: 4897 see Carcinoembryonic antigen gene family.

Gene ID: 4978 see Carcinoembryonic antigen gene family.

Gene ID: 5067

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."[11]

  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."[11]
  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."[11]
  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)."[11]
  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."[11]
  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)."[11] Conserved Domains (6) summary: cd04972 Location: 415 β†’ 497 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 313 β†’ 413 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 β†’ 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 β†’ 956 PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha, and smart00409 Location: 223 β†’ 293 IG; Immunoglobulin.[11]
  6. XP_006714104.1 platelet-derived growth factor receptor alpha isoform X2, Conserved Domains (6) summary: cd04972 Location: 440 β†’ 522 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 338 β†’ 438 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 253 β†’ 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 β†’ 318 IG_like; Immunoglobulin like, and cl11960 Location: 63 β†’ 137 Ig; Immunoglobulin domain..[11]
  7. XP_005265800.1 platelet-derived growth factor receptor alpha isoform X1, Conserved Domains (6) summary: cd04972 Location: 415 β†’ 497 Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC, cd05859 Location: 313 β†’ 413 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 β†’ 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 β†’ 293 IG; Immunoglobulin.[11]

Gene ID: 5157

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."[12]

  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."[12] Conserved Domains (4) summary: cd05859 Location: 250 β†’ 351 Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR), cd05861 Location: 164 β†’ 248 Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), cl11960 Location: 361 β†’ 459 Ig; Immunoglobulin domain.[12]
  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."[12] The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1." Conserved Domains (4) summary: cd05859 Location: 153 β†’ 254 Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR), cd05861 Location: 67 β†’ 151 Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b), cl11960 Location: 264 β†’ 362 Ig; Immunoglobulin domain.[12]
  3. NP_002600.1 platelet-derived growth factor receptor beta isoform 1 precursor, Conserved Domains (8) summary: cd05859 Location: 314 β†’ 415 Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha, cd05861 Location: 228 β†’ 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 β†’ 110 IG; Immunoglobulin, smart00410 Location: 222 β†’ 310 IG_like; Immunoglobulin like, pfam00047 Location: 37 β†’ 114 ig; Immunoglobulin domain, and cl11960 Location: 425 β†’ 523 Ig; Immunoglobulin domain.[12]

Gene ID: 5175 see Carcinoembryonic antigen gene family.

Gene ID: 5644

Gene ID: 5669

Gene ID: 5670

Gene ID: 5671

Gene ID: 5672

Gene ID: 5673

Gene ID: 5675

Gene ID: 5676

Gene ID: 5678

Gene ID: 5680

Gene ID: 5738

Gene ID: 5754

Gene ID: 5789

Gene ID: 5796

Gene ID: 5802

Gene ID: 5819

Gene ID: 6091

Gene ID: 6092

Gene ID: 6330

Gene ID: 6614

Gene ID: 6892 see Immunoglobulin supergene family.

Gene ID: 6900

Gene ID: 7087 see Carcinoembryonic antigen gene family.

Gene ID: 7204

Gene ID: 7273 see Immunoglobulin like domain pfam13895.

Gene ID: 7441 see Immunoglobulin supergene family.

Gene ID: 7837

Gene ID: 7850

Gene ID: 7869 see Immunoglobulin domain genes.

Gene ID: 8174 see Carcinoembryonic antigen gene family.

Gene ID: 8482 see Immunoglobulin domain genes.

Gene ID: 8633

Gene ID: 8778

Gene ID: 8807

Gene ID: 8808

Gene ID: 8809

Gene ID: 9019

Gene ID: 9172

Gene ID: 9173

Gene ID: 9308

Gene ID: 9398 see Immunoglobulin superfamily genes.

Gene ID: 9499

Gene ID: 9543 see Immunoglobulin superfamily genes.

Gene ID: 9860 see Immunoglobulin domain genes.

Gene ID: 10225

Gene ID: 10288 see Immunoglobulin receptor superfamily genes.

Gene ID: 10290

Gene ID: 10326

Gene ID: 10446

Gene ID: 10505 see Immunoglobulin domain genes.

Gene ID: 10507 see Immunoglobulin domain genes.

Gene ID: 10666

Gene ID: 10752 see Carcinoembryonic antigen gene family.

Gene ID: 10859 see Immunoglobulin receptor superfamily genes.

Gene ID: 10871 see Immunoglobulin receptor superfamily genes.

Gene ID: 10990 see Immunoglobulin receptor superfamily genes.

Gene ID: 11006 see Immunoglobulin receptor superfamily genes.

Gene ID: 11024 see Immunoglobulin receptor superfamily genes.

Gene ID: 11025 see Immunoglobulin like domain cd05751.

Gene ID: 11026 see Immunoglobulin receptor superfamily genes.

Gene ID: 11027 see Immunoglobulin receptor superfamily genes.

Gene ID: 11119 see Major histocompatibility complex class I gene family.

Gene ID: 11122

Gene ID: 11141

Gene ID: 11148

Gene ID: 11326 see Immunoglobulin domain genes.

Gene ID: 22997 see Immunoglobulin superfamily genes.

Gene ID: 23022

Gene ID: 23114

Gene ID: 23308

Gene ID: 23363

Gene ID: 23547 see Immunoglobulin receptor superfamily genes.

Gene ID: 25878

Gene ID: 25945

Gene ID: 25960

Gene ID: 26103 see Immunoglobulin domain genes.

Gene ID: 26280

Gene ID: 27020

Gene ID: 27036

Gene ID: 27180

Gene ID: 27181

Gene ID: 27255

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."[13]

  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."[13] Conserved Domains (1) summary: cl11960 Location: 21 β†’ 106 Ig; Immunoglobulin domain.[13]
  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."[13] Conserved Domains (2) summary: smart00410 Location: 24 β†’ 130 IG_like; Immunoglobulin like and cl11960 Location: 66 β†’ 114 Ig; Immunoglobulin domain.[13]
  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)."[13] Conserved Domains (1) summary: cl11960 Location: 54 β†’ 117 Ig; Immunoglobulin domain.[13]

Gene ID: 29802 see Immunoglobulin supergene family.

Gene ID: 29990

Gene ID: 29992

Gene ID: 50863

Gene ID: 50937 see Carcinoembryonic antigen gene family.

Gene ID: 51206 see Immunoglobulin like domain cd05751.

Gene ID: 51744

Gene ID: 53824

Gene ID: 53942

Gene ID: 54209

Gene ID: 54210

Gene ID: 54538

Gene ID: 54549

Gene ID: 54674

Gene ID: 54910 see Immunoglobulin domain genes.

Gene ID: 55080

Gene ID: 55243

Gene ID: 55423

Gene ID: 56244

Gene ID: 56253

Gene ID: 56971 see Carcinoembryonic antigen gene family.

Gene ID: 57188

Gene ID: 57292 see Immunoglobulin receptor superfamily genes.

Gene ID: 57413

Gene ID: 57453 see Carcinoembryonic antigen gene family.

Gene ID: 57497

Gene ID: 57549 see Immunoglobulin superfamily genes.

Gene ID: 57622

Gene ID: 57633

Gene ID: 57722 see Immunoglobulin superfamily genes.

Gene ID: 57823

Gene ID: 59307 see Immunoglobulin domain genes.

Gene ID: 60484

Gene ID: 63827

Gene ID: 64115

Gene ID: 64218 see Immunoglobulin domain genes.

Gene ID: 64221

Gene ID: 79037 see Immunoglobulin domain genes.

Gene ID: 79168 see Immunoglobulin domain genes.

Gene ID: 79414

Gene ID: 79679

Gene ID: 79908

Gene ID: 80380

Gene ID: 80381

Gene ID: 81621

Gene ID: 83417 see Immunoglobulin receptor superfamily genes.

Gene ID: 83872

Gene ID: 84033

Gene ID: 84063

Gene ID: 84623

Gene ID: 84665

Gene ID: 84824

Gene ID: 84866

Gene ID: 84894

Gene ID: 84966 see Immunoglobulin superfamily genes.

Gene ID: 89790

Gene ID: 89858

Gene ID: 89886

Gene ID: 89932

Gene ID: 90249

Gene ID: 90273 see Carcinoembryonic antigen gene family.

Gene ID: 91156

Gene ID: 91653

Gene ID: 92949

Gene ID: 93185 see Immunoglobulin superfamily genes.

Gene ID: 114625

Gene ID: 114836

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: 127294

Gene ID: 131450

Gene ID: 133418

Gene ID: 137902

Gene ID: 137970

Gene ID: 140885 see Immunoglobulin superfamily genes.

Gene ID: 147645

Gene ID: 147710 see Immunoglobulin superfamily genes.

Gene ID: 150084 see Immunoglobulin superfamily genes.

Gene ID: 151888

Gene ID: 152330

Gene ID: 152404 see Immunoglobulin superfamily genes.

Gene ID: 153579

Gene ID: 171558

Gene ID: 196264

Gene ID: 199731 see Carcinoembryonic antigen gene family.

Gene ID: 201633

Gene ID: 219699

Gene ID: 221935 see Carcinoembryonic antigen gene family.

Gene ID: 222008

Gene ID: 253012

Gene ID: 256158

Gene ID: 257194

Gene ID: 259197

Gene ID: 259215

Gene ID: 266727

Gene ID: 283284 see Immunoglobulin superfamily genes.

Gene ID: 283659

Gene ID: 284266

Gene ID: 284369

Gene ID: 284415

Gene ID: 285025

Gene ID: 285313 see Immunoglobulin superfamily genes.

Gene ID: 286676 see Immunoglobulin receptor superfamily genes.

Gene ID: 339398 see Immunoglobulin domain genes.

Gene ID: 340205

Gene ID: 340547 see Carcinoembryonic antigen gene family.

Gene ID: 342865

Gene ID: 343263

Gene ID: 344807

Gene ID: 345193 see Immunoglobulin domain genes.

Gene ID: 374383

Gene ID: 387804

Gene ID: 388551

Gene ID: 388730

Gene ID: 402665

Gene ID: 404037

Gene ID: 440533

Gene ID: 441381

Gene ID: 441864

Gene ID: 445347

Gene ID: 553128 see Immunoglobulin receptor superfamily genes.

Gene ID: 645191

Gene ID: 729767 see Carcinoembryonic antigen gene family.

Gene ID: 100049587

Gene ID: 100132285 see Immunoglobulin receptor superfamily genes.

Gene ID: 100528020

Gene ID: 100996693

Gene ID: 102723407

Gene ID: 102723996

Gene ID: 102724971

Gene ID: 102725023

Gene ID: 102725035 see Immunoglobulin like domain cd05751.

Gene ID: 107987425 see Immunoglobulin like domain cd05751.

Gene ID: 107987441

Gene ID: 107987462 see Immunoglobulin like domain cd05751.

Gene ID: 110599563

Gene ID: 112268334

Gene ID: 112268336

Gene ID: 112268337

Gene ID: 112268340

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 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. ↑ 2.0 2.1 2.2 2.3 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 RefSeq (May 2020). "CD4 CD4 molecule [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 29 June 2020.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 RefSeq (July 2008). "CD19 CD19 molecule [ Homo sapiens (human) ]". 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 29 June 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 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.
  8. ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 8.9 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.
  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 9.33 9.34 9.35 9.36 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.
  10. ↑
  11. ↑ 11.0 11.1 11.2 11.3 11.4 11.5 11.6 11.7 11.8 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.
  12. ↑ 12.0 12.1 12.2 12.3 12.4 12.5 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.
  13. ↑ 13.0 13.1 13.2 13.3 13.4 13.5 13.6 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.

External links

{{Phosphate biochemistry}}Template:Sisterlinks