UBE2J2

Chr 1

ubiquitin conjugating enzyme E2 J2

Also known as: NCUBE-2, NCUBE2, PRO2121, UBC6

NCBI Gene: 118424 ENSG00000160087 UniProt: Q8N2K1

The UBE2J2 protein is an E2 ubiquitin-conjugating enzyme located in the endoplasmic reticulum membrane that catalyzes ubiquitin attachment to misfolded proteins, facilitating their degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway. Mutations cause autosomal recessive intellectual disability with epilepsy and brain abnormalities, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.39), indicating that complete loss of protein function is likely pathogenic.

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. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [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

0.39

LOEUF

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Mechanism

Some data sources returned errors (1)

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