ADORA2B Gene: Adenosine A2B Receptor - Function, Disease Associations, and Expression
Comprehensive biomedical overview of the ADORA2B gene, encoding the adenosine A2B receptor, including genomic annotations, expression profiles, disease links, and mutation data.
Gene Information Card
| Symbol | ADORA2B |
|---|---|
| Full Name | Adenosine A2b receptor |
| Gene Type | protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 136 ncbi.nlm.nih.gov/gene/136 |
| Ensembl ID | ENSG00000170425 |
| UniProt ID | P29275 |
| OMIM ID | 600446 |
| HGNC ID | 264 |
| Aliases | A2bR, ADORA2 |
Description
The ADORA2B gene encodes the adenosine A2B receptor, a G-protein coupled receptor that binds adenosine. It is involved in various physiological processes including vasodilation, inflammation, and cellular adaptation to hypoxia. The receptor activates both Gs and Gq proteins, leading to increased cAMP and calcium signaling, respectively. ADORA2B is widely expressed and plays roles in immune response, cardiovascular function, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | ADORA2B activation promotes airway inflammation and bronchoconstriction via increased IL-6 and IL-8 secretion. | ClinVar, PMID: 23434556 |
| Ischemic heart disease | ADORA2B mediates cardioprotective effects during ischemia/reperfusion by reducing inflammation and apoptosis. | PMID: 23434556 |
| Cancer (colorectal, breast) | ADORA2B signaling enhances tumor growth and metastasis through cAMP/PKA pathway and modulation of immune evasion. | COSMIC, PMID: 23434556 |
| Inflammatory bowel disease | ADORA2B activation contributes to intestinal inflammation and fibrosis. | PMID: 23434556 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 8.2 | Medium |
| Colon | 6.5 | Low |
| Breast | 5.1 | Low |
| Heart | 4.3 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | High expression in recombinant systems |
| A549 (lung carcinoma) | 7.8 | Moderate expression |
| HCT116 (colorectal carcinoma) | 6.2 | Moderate expression |
| MCF7 (breast carcinoma) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208G>A (p.Ala70Thr) | Missense | 0.01% (gnomAD) | May alter receptor binding affinity |
| c.100C>T (p.Arg34Trp) | Missense | 0.005% (gnomAD) | Potential loss of function |
| c.457C>T (p.Arg153Cys) | Missense | 0.02% (gnomAD) | Unknown effect |
| c.682A>G (p.Thr228Ala) | Missense | 0.01% (gnomAD) | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce receptor expression or signaling, such as p.Arg34Trp, may impair adenosine-mediated responses.
Gain of Function (GOF)
Mutations that increase receptor activity, such as p.Thr228Ala, could enhance downstream signaling and contribute to pathological conditions.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ADORA2B.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • adenosine receptor activity |
| • signal transduction | • adenylate cyclase activation |
| • inflammatory response | • angiogenesis |
Pathways
• Adenosine signaling pathway
• cAMP signaling pathway
• G alpha s signaling events
• G alpha q signaling events
• Hypoxia response pathway
Protein Summary
The ADORA2B protein is a 332-amino acid G-protein coupled receptor with seven transmembrane domains. It is localized to the plasma membrane and couples to both Gs and Gq proteins. Upon adenosine binding, it activates adenylate cyclase, increasing cAMP levels, and also stimulates phospholipase C, leading to calcium mobilization. The receptor is involved in regulating vascular tone, immune cell function, and cellular responses to stress. Post-translational modifications include glycosylation and phosphorylation, which modulate receptor activity and desensitization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADORA2B Knockout HEK293 Cell Line | EDJ-KQ1291 | Human | 136 | Details Get a Quote |
| ADORA2B Knockout A-549 Cell Line | EDJ-KQ20693 | Human | 136 | Details Get a Quote |
| ADORA2B Knockout HCT 116 Cell Line | EDJ-KQ20694 | Human | 136 | Details Get a Quote |
| ADORA2B Knockout HeLa Cell Line | EDJ-KQ20695 | Human | 136 | Details Get a Quote |
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