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ADGRB3

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Target not currently curated in GtoImmuPdb

Target id: 176

Nomenclature: ADGRB3

Family: Adhesion Class GPCRs

Contents:

Gene and Protein Information Click here for help
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 Click here for help
BAI3 | brain-specific angiogenesis inhibitor 3
Database Links Click here for help
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 Click here for help
Image of receptor 3D structure from RCSB PDB
Description:  Crystal structure of the GAIN and HormR domains of brain angiogenesis inhibitor 3 (BAI3)
PDB Id:  4DLO
Ligand:  glycerol
Resolution:  2.3Å
Species:  Human
References:  2
Tissue Distribution Click here for help
Specific expression in many different brain regions, absent from gut, heart, kidney, liver, lung, muscle, spleen, aorta, testis
Species:  Mouse
Technique:  RT-PCR
References:  6,10
Preferential expression in muscle-myenteric nerve layer of gastrointestinal tract, absent from mucosal nerve layer
Species:  Mouse
Technique:  RT-PCR
References:  8
Specific expression in many different brain regions, absent or minimal expression outside brain
Species:  Rat
Technique:  in situ hybridisation and RT-PCR
References:  6,10
Expression Datasets Click here for help

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Functional Assays Click here for help
Addition of C1QL proteins (binding parnter) to cultured neuronal growth media.
Species:  Mouse
Tissue:  Cultured hippocampal neurons.
Response measured:  Decrease in synapse density.
References:  3
Physiological Functions Click here for help
ADGRB1 promotes myoblast fusion in vertebrates.
Species:  Mouse
Tissue:  C2C12 myoblasts.
References:  7
Physiological Consequences of Altering Gene Expression Click here for help
BAI3 expression was absent in two of nine glioblastoma cell lines examined and was significantly reduced in three of the remaining seven.
Species:  Human
Tissue:  Glioblastoma cell lines.
Technique:  Not specified.
References:  12
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Lung cancer
Disease Ontology: DOID:1324
OMIM: 211980
Role:  Mutations in BAI3 are associated with lung adenocarcinoma, squamous cell carcimoma and small cell carcinoma
References:  9
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human T14I Mutation associated with adenocarcimoma 9
Missense Human C189F Mutation associated with squamous cell carcimoma 9
Missense Human T420I Mutation associated with squamous cell carcimoma 9
Missense Human A442E Mutation associated with squamous cell carcimoma 9
Missense Human W461L Mutation associated with squamous cell carcimoma 9
Missense Human G543C Mutation associated with squamous cell carcimoma 9
Missense Human G586R Mutation associated with squamous cell carcimoma 9
Missense Human C819Y Mutation associated with squamous cell carcimoma 9
Missense Human I869T Mutation associated with adenocarcimoma 9
Missense Human A1024P Mutation associated with adenocarcimoma 9
Missense Human R1050K Mutation associated with squamous cell carcimoma 9
Missense Human R1124C Mutation associated with squamous cell carcimoma 9
Missense Human C1148F Mutation associated with squamous cell carcimoma 9
Missense Human M1258I Mutation associated with squamous cell carcimoma 9
Missense Human G1404V Mutation associated with adenocarcimoma 9
Missense Human D1449E Mutation associated with squamous cell carcimoma 9
Missense Human N1475T Mutation associated with squamous cell carcimoma 9
Missense Human P1510L Mutation associated with squamous cell carcimoma 9
Nonsense Human Y1479X Mutation associated with small cell carcimoma 9
Disease:  Ovarian cancer
Disease Ontology: DOID:2394
OMIM: 167000
References:  9
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human F1378Y 9
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 Click here for help
Type:  Naturally occurring SNPs
Species:  Human
Description:  SNP associated with schizophrenia.
SNP accession:  rs1415031
References:  4
Type:  Naturally occurring SNPs
Species:  Human
Description:  SNP associated with thromboembolism.
SNP accession:  rs9363864
References:  1
Type:  Naturally occurring SNPs
Species:  Human
Description:  SNP associated with schizophrenia.
SNP accession:  rs9446083
References:  4
General Comments
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.

References

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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]

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