UBE2J2
Chr 1ubiquitin conjugating enzyme E2 J2
Also known as: NCUBE-2, NCUBE2, PRO2121, UBC6
The UBE2J2 protein is an E2 ubiquitin-conjugating enzyme located in the endoplasmic reticulum membrane that catalyzes ubiquitin attachment to misfolded proteins, facilitating their degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway. Mutations cause autosomal recessive intellectual disability with epilepsy and brain abnormalities, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.39), indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
189 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 | 124 | 0 | 124 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 19 | 19 | 0 | 38 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 19 | 151 | 0 | 170 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UBE2J2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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