Gene: UBE2D3

Alternate names for this Gene: E2(17)KB3|UBC4/5|UBCH5C

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: ubiquitin conjugating enzyme E2 D3

Type of Gene: protein-coding

rs56375208 in UBE2D3 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs223361 in UBE2D3 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs223401 in UBE2D3 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

rs74332078 in UBE2D3 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.