UBE2F

Chr 2

ubiquitin conjugating enzyme E2 F (putative)

Also known as: NCE2

NCBI Gene: 140739 ENSG00000184182 UniProt: Q969M7 OMIM: 617700

UBE2F encodes a NEDD8 conjugating enzyme that catalyzes the covalent attachment of NEDD8 to cullins, particularly cullin-5, which is essential for proper protein degradation pathways. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene is highly constrained against loss-of-function variants, reflecting its critical role in cellular protein regulation.

OMIM ResearchSummary from RefSeq, UniProt

Enables NEDD8 conjugating enzyme activity. Involved in protein neddylation. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism