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 Metabolism and Sertoli-Sertoli Cell Junction Dynamics. 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).