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UBR2

Synonyms
C6orf133, bA49A4.1, dJ242G1.1, dJ392M17.3
External resources
Summary
This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.

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
7
Likely pathogenic
0
VUS
17,090
Likely benign
5,950
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on UBR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
57.1%
Constitutional symptom
42.9%
Abnormality of the nervous system
28.6%
Abnormality of head or neck
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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