MTMR2
Chr 11ARmyotubularin related protein 2
Also known as: CMT4B, CMT4B1
The encoded protein is a phosphoinositide lipid phosphatase that dephosphorylates phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations cause Charcot-Marie-Tooth disease type 4B1, an autosomal recessive demyelinating neuropathy. The pathogenic mechanism involves dominant-negative effects of mutant protein.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTMR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools