MTMR2 Back

myotubularin related protein 2

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NCBI Description of MTMR2

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Community Annotation of MTMR2 Add / Edit MTMR2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MTMR2 is highly significantly mutated in
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MTMR2 is significantly mutated in
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MTMR2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for MTMR2