ADRB2 Gene: Beta-2 Adrenergic Receptor
A key G protein-coupled receptor mediating catecholamine signaling in smooth muscle and metabolic tissues.
Gene Information Card
| Symbol | ADRB2 |
|---|---|
| Full Name | Adrenoceptor Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31-q32 |
| NCBI Gene ID | 154 ncbi.nlm.nih.gov/gene/154 |
| Ensembl ID | ENSG00000169252 |
| UniProt ID | P07550 |
| OMIM ID | 109690 |
| HGNC ID | 286 |
| Aliases | ADRB2R, B2AR, BAR, BETA2AR |
Description
The ADRB2 gene encodes the beta-2 adrenergic receptor, a member of the G protein-coupled receptor superfamily. This receptor is activated by catecholamines such as epinephrine and mediates physiological responses including bronchodilation, vasodilation, and lipolysis. It is a primary target for beta-agonist drugs used in asthma and COPD.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | ADRB2 polymorphisms (e.g., Arg16Gly) alter receptor downregulation and response to beta-agonists, influencing bronchodilator efficacy and exacerbation risk. | ClinVar, NCBI |
| Obesity | ADRB2 variants affect lipolysis and energy expenditure; the Gln27Glu polymorphism is associated with increased body mass index and fat mass. | OMIM, NCBI |
| Heart Failure | ADRB2 polymorphisms modulate cardiac contractility and response to beta-blockers; the Thr164Ile variant reduces receptor function and worsens prognosis. | ClinVar, NCBI |
| Hypertension | ADRB2 variants influence vascular tone and blood pressure regulation; the Arg16Gly polymorphism is linked to altered vasodilation. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 6.1 | Low |
| Adipose Tissue | 15.2 | Medium |
| Liver | 4.7 | Low |
| Kidney | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 18.4 | High expression |
| HEK293 (Embryonic Kidney) | 22.1 | High expression |
| HepG2 (Liver) | 5.2 | Low expression |
| SK-N-SH (Neuroblastoma) | 3.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Arg16Gly (rs1042713) | SNP | ~40% in European populations | Alters receptor downregulation; associated with asthma severity and beta-agonist response. |
| Gln27Glu (rs1042714) | SNP | ~30% in European populations | Linked to obesity and altered lipolysis; may affect receptor coupling. |
| Thr164Ile (rs1800888) | SNP | <5% in general populations | Reduces receptor function; associated with heart failure and hypertension. |
Mutation functional classification
Loss of Function (LOF)
Thr164Ile: reduced receptor binding and signaling, leading to impaired bronchodilation and cardiac response.
Gain of Function (GOF)
Not well-documented; some studies suggest Arg16Gly may enhance receptor downregulation but not gain-of-function.
Dominant Negative (DN)
Not reported for ADRB2.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • beta-2 adrenergic receptor activity |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • smooth muscle relaxation |
| • positive regulation of heart rate | • response to epinephrine |
Pathways
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
• cAMP signaling pathway (KEGG: hsa04024)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Beta-2 adrenergic receptor signaling (Reactome: R-HSA-392451)
Protein Summary
The beta-2 adrenergic receptor (UniProt P07550) is a 413-amino acid transmembrane protein with seven alpha-helical domains. It couples to the Gs alpha subunit, activating adenylate cyclase and increasing intracellular cAMP. This leads to smooth muscle relaxation, bronchodilation, and metabolic effects. The receptor is subject to agonist-induced desensitization and internalization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADRB2 Knockout HEK293 Cell Line | EDJ-KQ1553 | Human | 154 | Details Get a Quote |
| ADRB2 Knockout A-549 Cell Line | EDJ-KQ21228 | Human | 154 | Details Get a Quote |
| ADRB2 Knockout HeLa Cell Line | EDC90407 | Human | 154 | Details Get a Quote |
| ADRB2 Knockout HCT 116 Cell Line | EDJ-KQ69528 | Human | 154 | Details Get a Quote |
| ADRB2 Knockout HaCaT Cell Line | EDJ-KQ78079 | Human | 154 | Details Get a Quote |
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