UBE2G2

Chr 21

ubiquitin conjugating enzyme E2 G2

Also known as: UBC7

NCBI Gene: 7327 ENSG00000184787 UniProt: P60604 OMIM: 603124

UBE2G2 encodes an E2 ubiquitin-conjugating enzyme that accepts ubiquitin from E1 enzymes and catalyzes its covalent attachment to target proteins, particularly facilitating endoplasmic reticulum-associated degradation (ERAD) pathways. Mutations cause autosomal recessive intellectual disability with early-onset seizures and developmental delays. The gene shows relatively low constraint to loss-of-function variation, consistent with recessive inheritance patterns.

OMIM 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. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

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)

—

P/LP submissions

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P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted