ADGRB3 (adhesion G protein-coupled receptor B3)

Gene

• 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 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)

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
GO:0005096	Function	GTPase activator activity	ISS
GO:0005515	Function	Protein binding	IPI	21262840, 24567399, 25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IPI	21262840
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	15203201
GO:0007520	Process	Myoblast fusion	IDA	24567399
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	15203201
GO:0016322	Process	Neuron remodeling	IBA
GO:0016322	Process	Neuron remodeling	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0043083	Component	Synaptic cleft	IBA
GO:0043083	Component	Synaptic cleft	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0061743	Process	Motor learning	IEA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0150053	Component	Cerebellar climbing fiber to Purkinje cell synapse	IEA
GO:1905806	Process	Regulation of synapse pruning	IEA

Other IDs

• MIM: 602684
• HGNC: 945
• e!Ensembl: ENSG00000135298

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Short stature	Likely pathogenic	rs1562137453, rs1562005199	RCV000736204 RCV000736203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ALDOSTERONISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	40594127	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30659260	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29904178		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29904178	Associate	★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	30659260		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15225653		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	30659260	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28056976	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30659260	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34308980	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34293414	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29904178	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35880269	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	9533023		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	9533023		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29904178		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30659260		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32026199	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30659260		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30659260	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28056976	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15225653		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30659260		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	38280891	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24266897		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28056976		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34293414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24266897		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40594127	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	20946148	Associate	★☆☆☆☆ Found in Text Mining only