Aliases for MTMR2 Gene
External Ids for MTMR2 Gene
Previous HGNC Symbols for MTMR2 Gene
Previous GeneCards Identifiers for MTMR2 Gene
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. [provided by RefSeq, Aug 2011]
GeneCards Summary for MTMR2 Gene
MTMR2 (Myotubularin Related Protein 2) is a Protein Coding gene. Diseases associated with MTMR2 include Charcot-Marie-Tooth Disease, Type 4B1 and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is MTMR1.
UniProtKB/Swiss-Prot Summary for MTMR2 Gene
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).