ADGRB3 (adhesion G protein-coupled receptor B3)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 577
Gene name Adhesion G protein-coupled receptor B3
Gene symbol ADGRB3
Synonyms (NCBI Gene)
BAI3
Chromosome 6
Chromosome location 6q12-q13
Summary This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, h
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1562005199 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1562137453 T>C Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity TAS 15203201
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602684 945 ENSG00000135298
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60242
Protein name Adhesion G protein-coupled receptor B3 (Brain-specific angiogenesis inhibitor 3)
Protein function Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1 (PubMed:24567399). {ECO:000025
PDB 4DLO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19188 AGRB_N 28 → 203 Adhesion GPCR B N-terminal region Family
PF00090 TSP_1 295 → 342 Thrombospondin type 1 domain Domain
PF00090 TSP_1 349 → 397 Thrombospondin type 1 domain Domain
PF00090 TSP_1 404 → 452 Thrombospondin type 1 domain Domain
PF00090 TSP_1 459 → 507 Thrombospondin type 1 domain Domain
PF02793 HRM 511 → 570 Hormone receptor domain Family
PF16489 GAIN 594 → 794 GPCR-Autoproteolysis INducing (GAIN) domain Domain
PF01825 GPS 817 → 862 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 875 → 1143 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in brain. Also detected in heart. Reduced expression in some glioblastoma cell lines. {ECO:0000269|PubMed:9533023}.
Sequence 
MKAVRNLLIYIFSTYLLVMFGFNAAQDFWCSTLVKGVIYGSYSVSEMFPKNFTNCTWTLE
NPDPTKYSIYLKFSKKDLSCSNFSLLAYQFDHFSHEKIKDLLRKNHSIMQLCNSKNAFVF
LQYDKNFIQIRRVFPTNFPGLQKKGEEDQKSFFEFLVLNKVSPSQFGCHVLCTWLESCLK
SENGRTESCGIMYTKCTCPQHLGEWGIDDQSLILLNNVVLPLNEQTEGCLTQELQTTQVC
NLTREAKRPPKEEFGMMGDHTIKSQRPRSVHEKRVPQEQADAAKFMAQTGESGVEEWSQW
STCSVTCGQGSQVRTRTCVSPYGTHCSGPLRESRVCNNTALCPVHGVWEEWSPWSLCSFT
CGRGQRTRTRSCTPPQYGGRPCEGPETHHKPCNIALCPVDGQWQEWSSWSQCSVTCSNGT
QQRSRQCTAAAHGGSECRGPWAESRECYNPECTANGQWNQWGHWSGCSKSCDGGWERRIR
TCQGAVITGQQCEGTGEEVRRCNEQRCPAPYEICPEDYLMSMVWKRTPAGDLAFNQCPLN
ATGTTSRRCSLSLHGVAFWEQPSFARCISNEYRHLQHSIKEHLAKGQRMLAGDGMSQVTK
TLLDLTQRKNFYAGDLLMSVEILRNVTDTFKRASYIPASDGVQNFFQIVSNLLDEENKEK
WEDAQQIYPGSIELMQVIEDFIHIVGMGMMDFQNSYLMTGNVVASIQKLPAASVLTDINF
PMKGRKGMVDWARNSEDRVVIPKSIFTPVSSKELDESSVFVLGAVLYKNLDLILPTLRNY
TVINSKIIVVTIRPEPKTTDSFLEIELAHLANGTLNPYCVLWDDSKTNESLGTWSTQGCK
TVLTDASHTKCLCDRLSTFAILAQQPREIIMESSGTPSVTLIVGSGLSCLALITLAVVYA
ALWRYIRSERSIILINFCLSIISSNILILVGQTQTHNKSICTTTTAFLHFFFLASFCWVL
TEAWQSYMAVTGKIRTRLIRKRFLCLGWGLPALVVATSVGFTRTKGYGTDHYCWLSLEGG
LLYAFVGPAAAVVLVNMVIGILVFNKLVSRDGILDKKLKHRAGQMSEPHSGLTLKCAKCG
VVSTTALSATTASNAMASLWSSCVVLPLLALTWMSAVLAMTDKRSILFQILFAVFDSLQG
FVIVMVHCILRREVQDAFRCRLRNCQDPINADSSSSFPNGHAQIMTDFEKDVDIACRSVL
HKDIGPCRAATITGTLSRISLNDDEEEKGTNPEGLSYSTLPGNVISKVIIQQPTGLHMPM
SMNELSNPCLKKENSELRRTVYLCTDDNLRGADMDIVHPQERMMESDYIVMPRSSVNNQP
SMKEESKMNIGMETLPHERLLHYKVNPEFNMNPPVMDQFNMNLEQHLAPQEHMQNLPFEP
RTAVKNFMASELDDNAGLSRSETGSTISMSSLERRKSRYSDLDFEKVMHTRKRHMELFQE
LNQKFQTLDRFRDIPNTSSMENPAPNKNPWDTFKNPSEYPHYTTINVLDTEAKDALELRP
AEWEKCLNLPLDVQEGDFQTEV
Sequence length 1522
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Likely pathogenic rs1562137453, rs1562005199 RCV000736204
RCV000736203
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27610375
Arnold Chiari Malformation Associate 33974636
Arthritis Rheumatoid Associate 40594127
Ataxia Associate 30659260
Autistic Disorder Associate 29904178
Cerebellar Diseases Associate 30659260
Cholangitis Sclerosing Associate 28056976
Cognition Disorders Associate 30659260
Colorectal Neoplasms Associate 34308980
Depressive Disorder Associate 34293414