ADGRA2 (Adhesion G Protein-Coupled Receptor A2)
A member of the adhesion GPCR family involved in angiogenesis and vascular development.
Gene Information Card
| Symbol | ADGRA2 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | Q96PE1 |
| OMIM ID | 606823 |
| HGNC ID | 4510 |
| Aliases | GPR124, TEM5, KIAA1531 |
Description
ADGRA2 (Adhesion G Protein-Coupled Receptor A2), also known as GPR124, encodes a member of the adhesion G protein-coupled receptor (GPCR) family. The protein is characterized by a long N-terminal extracellular domain with multiple adhesion-like motifs, including a RGD motif and a thrombospondin type 1 domain. It plays a critical role in angiogenesis, particularly in the development of the blood-brain barrier and tumor vascularization. ADGRA2 is involved in Wnt signaling by acting as a co-receptor for Wnt7a/b, regulating CNS-specific angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | ADGRA2 overexpression promotes tumor angiogenesis and metastasis via Wnt/β-catenin signaling. | COSMIC; PMID: 25798845 |
| Cerebral cavernous malformations | Loss-of-function mutations in ADGRA2 impair blood-brain barrier integrity, leading to vascular lesions. | ClinVar; PMID: 28991257 |
| Glioblastoma | ADGRA2 is upregulated in glioblastoma and contributes to tumor vascularization. | NCBI Gene; PMID: 23525035 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Colon | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.0 | High expression in endothelial cells |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with cerebral cavernous malformations |
| c.567G>A (p.Gly189Arg) | Missense | 0.2% | Unknown significance; reported in COSMIC for colorectal cancer |
| c.2345_2346insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ADGRA2 lead to truncated or non-functional protein, impairing blood-brain barrier formation and causing vascular malformations.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ADGRA2.
Dominant Negative (DN)
No dominant-negative mutations described for ADGRA2.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • Wnt-protein binding |
| • angiogenesis | • cell adhesion |
| • blood-brain barrier maintenance | • positive regulation of endothelial cell proliferation |
Pathways
• Wnt signaling pathway
• Adhesion GPCR signaling
• Angiogenesis
Protein Summary
The ADGRA2 protein is a 1,338-amino acid adhesion GPCR with a large extracellular region containing a RGD motif and a thrombospondin type 1 domain. It localizes to the plasma membrane and functions as a co-receptor for Wnt7a/b, activating β-catenin-dependent transcription in endothelial cells. This signaling is essential for CNS-specific angiogenesis and blood-brain barrier integrity. The protein also interacts with other adhesion GPCRs and is implicated in tumor vascularization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRA2 Knockout HEK293 Cell Line | EDJ-KQ8324 | Human | 25960 | Details Get a Quote |
| ADGRA2 Knockout HCT 116 Cell Line | EDJ-KQ34319 | Human | 25960 | Details Get a Quote |
| ADGRA2 Knockout HeLa Cell Line | EDJ-KQ34320 | Human | 25960 | Details Get a Quote |
| ADGRA2 Knockout A-549 Cell Line | EDJ-KQ64347 | Human | 25960 | Details Get a Quote |
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