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.

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 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
Displaying Records 1 To 5 Of 5 Records
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