TRIM2

Chr 4AR

tripartite motif containing 2

Also known as: CMT2R, RNF86

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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.271 OMIM phenotype
Clinical SummaryTRIM2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.27LOEUF
pLI 0.996
Z-score 4.76
OE 0.12 (0.060.27)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.57Z-score
OE missense 0.53 (0.480.59)
248 obs / 464.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.12 (0.060.27)
00.351.4
Missense OE0.53 (0.480.59)
00.61.4
Synonymous OE0.89
01.21.6
LoF obs/exp: 4 / 34.0Missense obs/exp: 248 / 464.6Syn Z: 1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRIM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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