UBE2D3

Chr 4

ubiquitin conjugating enzyme E2 D3

Also known as: E2(17)KB3, UBC4/5, UBCH5C

NCBI Gene: 7323ENSG00000109332UniProt: P61077OMIM: 602963

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. [provided by RefSeq, Jan 2017]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.413
Z-score 2.25
OE 0.21 (0.09–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.99Z-score
OE missense 0.07 (0.04–0.14)
6 obs / 82.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.21 (0.09–0.67)
0≤0.351.4
Missense OE?0.07 (0.04–0.14)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 2 / 9.5Missense obs/exp: 6 / 82.6Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UBE2D3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients