UBE2E1
Chr 3ubiquitin conjugating enzyme E2 E1
Also known as: UBCH6
UBE2E1 encodes an E2 ubiquitin-conjugating enzyme that accepts ubiquitin from E1 enzymes and catalyzes its covalent attachment to target proteins, mediating degradation of abnormal and short-lived proteins. The gene is highly constrained against loss-of-function variants (LOEUF 0.57), but specific disease associations and inheritance patterns have not yet been established in the literature. Variants in this gene may potentially cause neurodevelopmental disorders given its essential cellular function and constraint metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
43 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 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 8 | 1 | 0 | 9 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 8 | 22 | 2 | 32 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UBE2E1 · 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