ARB2A
Adenosine Receptor B2A
Gene Information Card
| Symbol | ARB2A |
|---|---|
| Full Name | Adenosine Receptor B2A |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 135 ncbi.nlm.nih.gov/gene/135 |
| Ensembl ID | ENSG00000128271 |
| UniProt ID | P29274 |
| OMIM ID | 102776 |
| HGNC ID | 263 |
| Aliases | ADORA2A, A2aR, RDC8 |
Description
ARB2A (ADORA2A) encodes the adenosine A2A receptor, a G protein-coupled receptor that binds adenosine and mediates cellular signaling via adenylyl cyclase activation. It is involved in cardiovascular regulation, immune modulation, neurotransmission, and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Receptor modulation affects dopaminergic signaling; polymorphisms linked to risk | ClinVar, OMIM |
| Schizophrenia | Genetic variants associated with altered receptor expression and neurotransmission | ClinVar, OMIM |
| Coronary artery disease | Receptor activation influences vasodilation and inflammation | NCBI Gene, OMIM |
| Cancer (various) | Receptor expression modulates tumor microenvironment and immune evasion | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Low |
| Spleen | 15.2 | High |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| SH-SY5Y | 9.2 | Moderate expression |
| Jurkat | 22.1 | High expression |
| HepG2 | 4.5 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1085C>T (p.Thr362Met) | Missense | 0.01% | Altered ligand binding |
| c.1364G>A (p.Arg455His) | Missense | 0.005% | Reduced receptor activity |
| c.1976T>C (p.Leu659Pro) | Missense | 0.002% | Unknown |
Mutation functional classification
Loss of Function (LOF)
p.Arg455His reduces cAMP signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • adenosine receptor activity |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • inflammatory response |
| • nervous system development |
Pathways
• Adenosine signaling pathway
• cAMP signaling pathway
• GPCR downstream signaling
Protein Summary
The adenosine A2A receptor is a 412-amino acid membrane protein with seven transmembrane domains. It couples to Gs proteins to stimulate adenylyl cyclase and increase intracellular cAMP. The receptor is widely expressed in brain, heart, and immune cells, regulating neurotransmitter release, vascular tone, and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARB2A Knockout HEK293 Cell Line | EDJ-KQ9953 | Human | 83989 | Details Get a Quote |
| ARB2A Knockout A-549 Cell Line | EDJ-KQ36868 | Human | 83989 | Details Get a Quote |
| ARB2A Knockout HCT 116 Cell Line | EDJ-KQ36869 | Human | 83989 | Details Get a Quote |
| ARB2A Knockout HeLa Cell Line | EDJ-KQ36870 | Human | 83989 | Details Get a Quote |