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ARRB2

Synonyms
ARB2, ARR2, BARR2
External resources
Summary
Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this 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
373
Likely pathogenic
0
VUS
7,047
Likely benign
1,194
Benign
0

Patient phenotypes

Proportions of phenotypes among 336 patients carring pathogenic or likely pathogenic variants on ARRB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
32.4%
Abnormality of head or neck
25.9%
Abnormality of the cardiovascular system
22%
Abnormality of the eye
19.3%
Abnormality of the ear
17.3%
Growth abnormality
14.6%
Abnormality of limbs
14.3%
Abnormality of the integument
14%
Abnormality of the genitourinary system
12.2%
Abnormality of the digestive system
9.5%
Abnormality of the immune system
8%
Abnormality of the respiratory system
4.5%
Abnormality of the endocrine system
4.2%
Constitutional symptom
3.9%
Neoplasm
3.3%
Abnormality of blood and blood-forming tissues
3%
Abnormality of prenatal development or birth
2.7%
Abnormal cellular phenotype
1.5%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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