ADGRB3 adhesion G protein-coupled receptor B3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADGRB3provided by HGNC
Official Full Name: adhesion G protein-coupled receptor B3provided by HGNC
Primary source: HGNC:HGNC:945
See related: Ensembl:ENSG00000135298 MIM:602684; AllianceGenome:HGNC:945
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAI3
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, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 7.6), adrenal (RPKM 0.8) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q12-q13

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (68635282..69389506)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (69812849..70568164)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (69345174..70099398)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene.
Title: Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene.
Tethered agonist exposure in intact adhesion/class B2 GPCRs through intrinsic structural flexibility of the GAIN domain.
Title: Tethered agonist exposure in intact adhesion/class B2 GPCRs through intrinsic structural flexibility of the GAIN domain.
These findings further support this association and also suggest that biallelic variants affecting the function of the ADGRB3 gene may also cause cognitive impairments and ataxia.
Title: Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
BAI3 mediates the inhibitory effects of C1ql3 on insulin secretion from pancreatic beta-cells.
Title: Complement 1q-like-3 protein inhibits insulin secretion from pancreatic β-cells via the cell adhesion G protein-coupled receptor BAI3.
BAI3 has the potential to act as target for pharmaceutical intervention inline with developing trends in molecular pathology aiming to provide personalized, treatment regimes based on tumor-specific mutation profiles.
Title: An investigation into the potential role of brain angiogenesis inhibitor protein 3 (BAI3) in the tumorigenesis of small-cell carcinoma: a review of the surrounding literature.
Discriminated small-cell lung carcinoma from large-cell neuroendocrine lung carcinoma with immunohistochemical markers BAI3, CDX2 and VIL1.
Title: BAI3, CDX2 and VIL1: a panel of three antibodies to distinguish small cell from large cell neuroendocrine lung carcinomas.
The BAI3 locus where the rs9363864 maps is a new candidate for venous thromboembolism risk
Title: A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism.
C1ql proteins are secreted signaling molecules that bind to BAI3 and act, at least in part, to regulate synapse formation and/or maintenance.
Title: The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S965 (e-PCR)
- UniSTS:56878

D6S467 (e-PCR)
- UniSTS:32304

SHGC-81469 (e-PCR)
- UniSTS:103221

D6S1406 (e-PCR)
- UniSTS:19512

RH25141 (e-PCR)
- UniSTS:89912

D6S1225E (e-PCR)
- UniSTS:151101

RH15836 (e-PCR)
- UniSTS:71504

SHGC-3712 (e-PCR)
- UniSTS:89426

SHGC-112231 (e-PCR)
- UniSTS:168530

D6S1619 (e-PCR), detects polymorphism
- UniSTS:53117

D6S1150E (e-PCR)
- UniSTS:19079

Bai3 (e-PCR), detects polymorphism
- UniSTS:474763

RH120922 (e-PCR)
- UniSTS:133782

fd06g06.y1 (e-PCR)
- UniSTS:195003

D6S1903 (e-PCR)
- UniSTS:54759

RH18425 (e-PCR)
- UniSTS:31214

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in maintenance of synapse structure	IEA Inferred from Electronic Annotation more info
involved_in motor learning	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuron remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse maturation	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse pruning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cerebellar climbing fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic cleft	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: adhesion G protein-coupled receptor B3

Names: brain-specific angiogenesis inhibitor 3; dJ91B17.1 (brain-specific angiogenesis inhibitor 3)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001704.3 → NP_001695.2 adhesion G protein-coupled receptor B3

Status: REVIEWED

Source sequence(s)

AL133378, AL158051, AL160401, AL356117, AL359714, AL391807, KF458189

Consensus CDS

CCDS4968.1

UniProtKB/Swiss-Prot

B7Z1K0, O60242, O60297, Q2NKN6, Q5VY37, Q9BX54

UniProtKB/TrEMBL

A8K0Y1

Related

ENSP00000359630.1, ENST00000370598.6

Conserved Domains (6) summary

smart00303
Location:816 → 867

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:510 → 576

HormR; Domain present in hormone receptors

smart00209
Location:348 → 398

TSP1; Thrombospondin type 1 repeats

pfam16489
Location:594 → 794

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cd15989
Location:872 → 1164

7tmB2_BAI3; brain-specific angiogenesis inhibitor 3, a group VII adhesion GPCR, member of the class B2 family of seven-transmembrane G protein-coupled receptors

cl25971
Location:98 → 175

RSN1_7TM; Calcium-dependent channel, 7TM region, putative phosphate