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Gene and Protein Information  |
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| Adhesion G protein-coupled receptor | ||||||
| Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | 7 | 1522 | 6q12-q13 | ADGRB3 | adhesion G protein-coupled receptor B3 | 12 |
| Mouse | 8 | 1522 | 1 A5 | Adgrb3 | adhesion G protein-coupled receptor B3 | 10 |
| Rat | 7 | 1522 | 9q13 | Adgrb3 | adhesion G protein-coupled receptor B3 | |
| Previous and Unofficial Names |
| BAI3 | brain-specific angiogenesis inhibitor 3 |
| Database Links |
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| Specialist databases | |
| GPCRdb | agrb3_human (Hs), q499e3_mouse (Mm) |
| Other databases | |
| Alphafold | O60242 (Hs), Q499E3 (Mm) |
| CATH/Gene3D | 2.20.100.10 |
| Ensembl Gene | ENSG00000135298 (Hs), ENSMUSG00000033569 (Mm), ENSRNOG00000012045 (Rn) |
| Entrez Gene | 577 (Hs), 210933 (Mm), 301309 (Rn) |
| Human Protein Atlas | ENSG00000135298 (Hs) |
| KEGG Gene | hsa:577 (Hs), mmu:210933 (Mm), rno:301309 (Rn) |
| OMIM | 602684 (Hs) |
| Pharos | O60242 (Hs) |
| RefSeq Nucleotide | NM_001704 (Hs), NM_175642 (Mm), NM_00106898 (Rn) |
| RefSeq Protein | NP_001695 (Hs), NP_783573 (Mm), NP_001100368 (Rn) |
| UniProtKB | O60242 (Hs), Q499E3 (Mm) |
| Wikipedia | ADGRB3 (Hs) |
| Selected 3D Structures |
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| Tissue Distribution
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| Expression Datasets |
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| Functional Assays
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| Physiological Functions
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| Physiological Consequences of Altering Gene Expression
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| Clinically-Relevant Mutations and Pathophysiology
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| Clinically-Relevant Mutations and Pathophysiology Comments | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| All mutations listed are correlations of human mutation and disease from the same reference. Copy # gain observed in breast and ovarian cancers. Copy # loss observed in breast, ovarian and prostate cancers. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Biologically Significant Variants
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| General Comments |
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ADGRB3 (adhesion G protein-coupled receptor B3 formerly known as BAI3: brain angiogenesis inhibitor 3) is a receptor belonging to Family VII Adhesion-GPCRs together with ADGRB1 and ADGRB2 [5]. The gene is localized on human chromosome 6 and mouse chromosome 1. Full coding sequence human cDNA is publicly available, IMAGE:40027602 [11]. Matches RefSeq but not reference human genomic sequence at N503S. This is the more common allele (90%) of a known SNP, rs1932618. |
1. Antoni G, Morange PE, Luo Y, Saut N, Burgos G, Heath S, Germain M, Biron-Andreani C, Schved JF, Pernod G et al.. (2010) A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism. J Thromb Haemost, 8 (12): 2671-9. [PMID:20946148]
2. Araç D, Boucard AA, Bolliger MF, Nguyen J, Soltis SM, Südhof TC, Brunger AT. (2012) A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis. EMBO J, 31 (6): 1364-78. [PMID:22333914]
3. Bolliger MF, Martinelli DC, Südhof TC. (2011) The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins. Proc Natl Acad Sci USA, 108 (6): 2534-9. [PMID:21262840]
4. DeRosse P, Lencz T, Burdick KE, Siris SG, Kane JM, Malhotra AK. (2008) The genetics of symptom-based phenotypes: toward a molecular classification of schizophrenia. Schizophr Bull, 34 (6): 1047-53. [PMID:18628273]
5. Fredriksson R, Gloriam DE, Höglund PJ, Lagerström MC, Schiöth HB. (2003) There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini. Biochem Biophys Res Commun, 301 (3): 725-34. [PMID:12565841]
6. Haitina T, Olsson F, Stephansson O, Alsiö J, Roman E, Ebendal T, Schiöth HB, Fredriksson R. (2008) Expression profile of the entire family of Adhesion G protein-coupled receptors in mouse and rat. BMC Neurosci, 9: 43. [PMID:18445277]
7. Hamoud N, Tran V, Croteau LP, Kania A, Côté JF. (2014) G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates. Proc Natl Acad Sci USA, 111 (10): 3745-50. [PMID:24567399]
8. Ito J, Ito M, Nambu H, Fujikawa T, Tanaka K, Iwaasa H, Tokita S. (2009) Anatomical and histological profiling of orphan G-protein-coupled receptor expression in gastrointestinal tract of C57BL/6J mice. Cell Tissue Res, 338 (2): 257-69. [PMID:19763624]
9. Kan Z, Jaiswal BS, Stinson J, Janakiraman V, Bhatt D, Stern HM, Yue P, Haverty PM, Bourgon R, Zheng J, Moorhead M, Chaudhuri S, Tomsho LP, Peters BA, Pujara K, Cordes S, Davis DP, Carlton VE, Yuan W, Li L, Wang W, Eigenbrot C, Kaminker JS, Eberhard DA, Waring P, Schuster SC, Modrusan Z, Zhang Z, Stokoe D, de Sauvage FJ, Faham M, Seshagiri S. (2010) Diverse somatic mutation patterns and pathway alterations in human cancers. Nature, 466 (7308): 869-73. [PMID:20668451]
10. Kee HJ, Ahn KY, Choi KC, Won Song J, Heo T, Jung S, Kim JK, Bae CS, Kim KK. (2004) Expression of brain-specific angiogenesis inhibitor 3 (BAI3) in normal brain and implications for BAI3 in ischemia-induced brain angiogenesis and malignant glioma. FEBS Lett, 569 (1-3): 307-16. [PMID:15225653]
11. Lennon G, Auffray C, Polymeropoulos M, Soares MB. (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics, 33 (1): 151-2. [PMID:8617505]
12. Shiratsuchi T, Nishimori H, Ichise H, Nakamura Y, Tokino T. (1997) Cloning and characterization of BAI2 and BAI3, novel genes homologous to brain-specific angiogenesis inhibitor 1 (BAI1). Cytogenet Cell Genet, 79 (1-2): 103-8. [PMID:9533023]
