ADRB2

Chr 5

adrenoceptor beta 2

Also known as: ADRB2R, ADRBR, ARB2, B2AR, BAR, BETA2AR

NCBI Gene: 154ENSG00000169252UniProt: P07550

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
5
Active trials
182
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.525
Z-score 2.46
OE 0.19 (0.08–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.35Z-score
OE missense 0.75 (0.67–0.85)
180 obs / 238.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.08–0.59)
0≤0.351.4
Missense OE?0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 2 / 10.7Missense obs/exp: 180 / 238.5Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADRB2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients