MTMR2

This gene is a member of the myotubularin family. 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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq]

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).

Dendritic spine maintenance Source: BHF-UCL
Inositol phosphate dephosphorylation Source: Ensembl
Myelin assembly Source: Ensembl
Negative regulation of endocytosis Source: BHF-UCL
Negative regulation of excitatory postsynaptic potential Source: BHF-UCL
Negative regulation of myelination Source: Ensembl
Negative regulation of receptor catabolic process Source: BHF-UCL
Negative regulation of receptor internalization Source: BHF-UCL
Neuron development Source: Ensembl
Phosphatidylinositol biosynthetic process Source: Reactome
Phosphatidylinositol dephosphorylation Source: UniProtKB
Positive regulation of early endosome to late endosome transport Source: BHF-UCL
Protein dephosphorylation Source: UniProtKB
Regulation of phosphatidylinositol dephosphorylation Source: UniProtKB

Cytoplasm
Endosome
Early endosome membrane
Endosome membrane
Other locations
perinuclear region
axon
Note: Partly associated with membranes (PubMed:12668758, PubMed:15998640, PubMed:21372139). Localizes to vacuoles in hypo-osmotic conditions (By similarity).

Charcot-Marie-Tooth disease 4B1 (CMT4B1):
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.