DISEASES

Disease-gene associations mined from literature

Literature associating MTMR2 and Charcot-Marie-Tooth disease axonal type 2F

MTMR2 [ENSP00000345752]

Myotubularin-related protein 2; 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). ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758,; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.

Synonyms:  MTMR2,  MTMR2p,  hMTMR2,  A0A024R3B7,  C9JEX3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM