UBE2A

Chr XXLR

ubiquitin conjugating enzyme E2 A

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

NCBI Gene: 7319 ENSG00000077721 UniProt: P49459 OMIM: 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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

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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