ADRB3

Chr 8ADARMulti

adrenoceptor beta 3

Also known as: BETA3AR

NCBI Gene: 155 ENSG00000188778 UniProt: P13945 OMIM: 109691

The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Obesity, susceptibility to}MIM #601665

ADARMulti

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.68

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.68LOEUF

pLI 0.000

Z-score -0.06

OE 1.02 (0.63–1.68)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.41Z-score

OE missense 0.92 (0.83–1.04)

214 obs / 231.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.02 (0.63–1.68)

0≤0.351.4

Missense OE?0.92 (0.83–1.04)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 10 / 9.8Missense obs/exp: 214 / 231.4Syn Z: 0.10

Background carrier burden — how many people carry a rare variant somewhere in ADRB3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 83

651 rare PASS variants

Rare truncating (LoF)

1 in 800

91 rare PASS variants

Rare synonymous (reference)

1 in 150

308 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ADRB3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 2,400
South Asian	~43k	1 in 85	1 in 1,300
Remaining (unassigned)	~30k	1 in 72	1 in 890
European (Finnish)	~27k	1 in 530	1 in 730
Admixed American	~22k	1 in 74	1 in 1,300
African / African American	~21k	1 in 97	1 in 1,900
East Asian	~20k	1 in 86	1 in 950
Ashkenazi Jewish	~13k	1 in 960	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 61	≈ 1 in 950

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓