TRIM13

Chr 13

tripartite motif containing 13

Also known as: CAR, DLEU5, LEU5, RFP2, RNF77

NCBI Gene: 10206 ENSG00000204977 UniProt: O60858

The TRIM13 protein is an endoplasmic reticulum-anchored E3 ubiquitin ligase that degrades misfolded proteins through ER-associated degradation (ERAD) and regulates NF-kappa-B signaling in immune responses. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain malformations. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.53), consistent with its essential cellular functions.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants 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

0.53

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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