UBE2R2
Chr 9ubiquitin conjugating enzyme E2 R2
Also known as: CDC34B, E2-CDC34B, UBC3B
This gene encodes an E2 ubiquitin-conjugating enzyme that transfers ubiquitin from E1 activating enzymes to target proteins via E3 ligase complexes, participating in protein degradation pathways including beta-catenin regulation. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.26), suggesting mutations would likely cause severe disease, though specific associated disorders have not yet been established in the literature. Clinical phenotypes and inheritance patterns remain to be characterized as this gene emerges in research studies.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
95 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 61 |
Likely Pathogenic | — | — | — | — | 8 |
VUS | — | — | — | — | 17 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 0 |
| Total | — | 88 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UBE2R2 · 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