UBE3D
Chr 6ubiquitin protein ligase E3D
Also known as: C6orf157, H10BH, UBE2CBP, YJR141W
The protein is an E3 ubiquitin ligase that transfers ubiquitin to target proteins for proteasome-mediated degradation and also inhibits CPSF3 endonuclease activity. Mutations cause autosomal recessive intellectual disability with developmental delay and behavioral abnormalities. The gene shows minimal constraint against loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
97 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 58 | 7 | 0 | 65 |
Likely Benign | 0 | 8 | 0 | 0 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 66 | 21 | 0 | 87 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UBE3D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools