UBE2I
Chr 16ubiquitin conjugating enzyme E2 I
Also known as: C358B7.1, P18, UBC9
UBE2I encodes an E2 conjugating enzyme that catalyzes the covalent attachment of small ubiquitin-like modifier (SUMO) proteins to target proteins, which is essential for nuclear architecture and chromosome segregation. This gene is highly constrained against loss-of-function variants (pLI=0.96), but no Mendelian disease associations have been established in OMIM or other major disease databases. Clinical variants in UBE2I would likely require careful evaluation given the protein's essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBE2I · 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