ADGRB2

Adhesion G Protein-Coupled Receptor B2

Gene Information Card

Symbol ADGRB2
Full Name Adhesion G Protein-Coupled Receptor B2
Gene Type protein-coding
Chromosomal Location 1p31.1
NCBI Gene ID 576 ncbi.nlm.nih.gov/gene/576
Ensembl ID ENSG00000134202
UniProt ID O60241
OMIM ID 602682
HGNC ID 945
Aliases BAI2, GPR124

Description

ADGRB2 (Adhesion G Protein-Coupled Receptor B2), also known as BAI2, is a member of the adhesion GPCR family. It is characterized by a large extracellular N-terminal region containing multiple domains, including thrombospondin type 1 repeats, and a seven-transmembrane domain. ADGRB2 is involved in cell adhesion, angiogenesis inhibition, and signal transduction. It is predominantly expressed in the brain and may play a role in synaptic function and tumor suppression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Glioblastoma Potential tumor suppressor; reduced expression may promote angiogenesis and tumor growth PMID: 11500366
Colorectal Cancer Downregulation associated with poor prognosis; possible role in metastasis PMID: 15604238
Schizophrenia Genetic association studies suggest involvement in neurodevelopment PMID: 21743477

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Testis 3.2 Low
Lung 1.8 Low
Heart 0.9 Not detected
Liver 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 8.1 Neuronal expression
U87MG (glioblastoma) 4.3 Reduced compared to normal brain
HEK293 1.2 Low endogenous expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.01% Loss of function; truncation of extracellular domain
c.567G>A (p.Trp189*) Nonsense <0.01% Loss of function; premature stop codon
c.2345A>G (p.Tyr782Cys) Missense 0.02% Unknown significance; located in transmembrane domain
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein lacking functional domains, likely resulting in loss of receptor signaling.

Gain of Function (GOF)

No gain-of-function mutations reported in ADGRB2.

Dominant Negative (DN)

No dominant-negative mutations reported in ADGRB2.

Gene Ontology (GO)

• G protein-coupled receptor activity • cell adhesion
• angiogenesis • signal transduction
• plasma membrane • integral component of membrane

Pathways

GPCR signaling
Angiogenesis inhibition

Protein Summary

ADGRB2 (BAI2) is a 1584-amino acid adhesion GPCR with a large extracellular region containing thrombospondin type 1 repeats, a GPS (GPCR proteolysis site) domain, and a seven-transmembrane domain. It is cleaved at the GPS site into an N-terminal fragment (NTF) and a C-terminal fragment (CTF) that remain non-covalently associated. The protein is involved in cell-cell adhesion and may inhibit angiogenesis. It is highly expressed in brain and testis.

Related Products

Product name Cat.No. Species Gene ID
ADGRB2 Knockout HEK293 Cell Line EDJ-KQ4123 Human 576 Details Get a Quote
ADGRB2 Knockout A-549 Cell Line EDJ-KQ26524 Human 576 Details Get a Quote
ADGRB2 Knockout HCT 116 Cell Line EDJ-KQ26525 Human 576 Details Get a Quote
ADGRB2 Knockout HeLa Cell Line EDJ-KQ26526 Human 576 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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