UBE2I

Chr 16

ubiquitin conjugating enzyme E2 I

Also known as: C358B7.1, P18, UBC9

NCBI Gene: 7329 ENSG00000103275 UniProt: P63279

UBE2I encodes an E2 conjugating enzyme that catalyzes the covalent attachment of small ubiquitin-like modifier (SUMO) proteins to target proteins, which is essential for nuclear architecture and chromosome segregation. This gene is highly constrained against loss-of-function variants (pLI=0.96), but no Mendelian disease associations have been established in OMIM or other major disease databases. Clinical variants in UBE2I would likely require careful evaluation given the protein's essential cellular functions.

ResearchSummary from RefSeq, 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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429