UBE2A

Chr XXLR

ubiquitin conjugating enzyme E2 A

Also known as: HHR6A, MRXS30, MRXSN, RAD6A, UBC2

NCBI Gene: 7319ENSG00000077721UniProt: P49459OMIM: 312180

This E2 ubiquitin-conjugating enzyme transfers ubiquitin from E1 activating enzymes to E3 ligases and plays critical roles in transcriptional regulation through histone H2B monoubiquitination, mitophagy, and protein degradation pathways. Mutations cause X-linked intellectual developmental disorder, Nascimento type, which follows X-linked recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.537), reflecting its essential cellular functions.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.541 OMIM phenotype
Clinical Summary— UBE2A
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Gene-Disease Validity (ClinGen)
syndromic X-linked intellectual disability Nascimento type · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.815
Z-score 2.19
OE 0.00 (0.00–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.46Z-score
OE missense 0.13 (0.07–0.23)
8 obs / 63.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.54)
0≤0.351.4
Missense OE0.13 (0.07–0.23)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 0 / 5.6Missense obs/exp: 8 / 63.0Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UBE2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients