TRIM2

Chr 4AR

tripartite motif containing 2

Also known as: CMT2R, RNF86

NCBI Gene: 23321 ENSG00000109654 UniProt: Q9C040 OMIM: 614141

The TRIM2 protein is an E3 ubiquitin ligase that mediates proteasome-mediated degradation of target proteins and plays a neuroprotective role in neurons. Mutations cause Charcot-Marie-Tooth disease type 2R, an early-onset axonal neuropathy, with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.27), indicating that heterozygous loss-of-function variants are likely not tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is 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. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 2RMIM #615490

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

0.27

LOEUF· LoF intol.

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Mechanism