Home > Gene Browser > UBE2D3

UBE2D3

Synonyms
E2(17)KB3, UBC4/5, UBCH5C
External resources
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,938
Likely benign
279
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UBE2D3 gene.

Phenotype class
Patients in 3billion (%)

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