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.
View complete mutation data:
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 Services
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 |
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