Home > Gene Browser > ADRB3

ADRB3

Synonyms
BETA3AR
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
48
Likely pathogenic
0
VUS
648
Likely benign
487
Benign
27

Patient Phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on ADRB3 gene are displayed below. The following symptoms were found in patients with a variant in ADRB3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.9%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
29.2%
Abnormality of the eye
20.8%
Abnormality of the ear
14.6%
Growth abnormality
14.6%
Abnormality of the digestive system
12.5%
Abnormality of the integument
12.5%
Abnormality of blood and blood forming tissues
10.4%
Abnormality of the cardiovascular system
10.4%
Abnormality of limbs
8.3%
Abnormality of the immune system
8.3%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the respiratory system
4.2%
Constitutional symptom
4.2%
Neoplasm
4.2%
Abnormality of prenatal development or birth
2.1%
Abnormality of the breast
2.1%
Abnormality of the voice
2.1%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.