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ASB2

Synonyms
ASB-2
External resources
Summary
This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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
21
Likely pathogenic
0
VUS
3,127
Likely benign
24
Benign
0

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on ASB2 gene are displayed below. The following symptoms were found in patients with a variant in ASB2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
23.8%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the nervous system
14.3%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the immune system
9.5%
Neoplasm
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of limbs
4.8%
Abnormality of the breast
4.8%
Abnormality of the digestive system
4.8%
Constitutional symptom
4.8%
Growth abnormality
4.8%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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