ID  Q13614;
PN  Myotubularin-related protein 2;
GN  MTMR2;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:15998640}. Early endosome membrane {ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}; Peripheral membrane protein {ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:12668758}. Cell projection, axon {ECO:0000250|UniProtKB:Q9Z2D1}. Endosome membrane {ECO:0000250|UniProtKB:Q9Z2D1}; Peripheral membrane protein {ECO:0000305}. Note=Partly associated with membranes (PubMed:12668758, PubMed:15998640, PubMed:21372139). Localizes to vacuoles in hypo- osmotic conditions (By similarity). {ECO:0000250|UniProtKB:Q9Z2D1, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}.
DR  UNIPROT: Q13614;
DR  UNIPROT: A6NN98;
DR  UNIPROT: Q9UPS9;
DR  PDB: 1LW3;
DR  PDB: 1M7R;
DR  PDB: 1ZSQ;
DR  PDB: 1ZVR;
DR  PDB: 5GNH;
DR  Pfam: PF02893;
DR  Pfam: PF06602;
DR  PROSITE: PS51339;
DR  PROSITE: PS00383;
DR  PROSITE: PS50056;
DR  OMIM: 601382;
DR  OMIM: 603557;
DR  DisGeNET: 8898;
DE  Function: 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:0000250|UniProtKB:Q9Z2D1, ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:14690594, ECO:0000269|PubMed:21372139}.
DE  Disease: Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]: 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. {ECO:0000269|PubMed:10802647, ECO:0000269|PubMed:12398840}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O95248; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: P07196; IntAct: EBI-475642; Score: 0.51
DE  Interaction: Q8ZH40; IntAct: EBI-2864099; Score: 0.00
DE  Interaction: Q8D1P8; IntAct: EBI-2864085; Score: 0.00
DE  Interaction: Q7ARD3; IntAct: EBI-2864092; Score: 0.00
DE  Interaction: Q9C0I1; IntAct: EBI-6962705; Score: 0.59
DE  Interaction: O60826; IntAct: EBI-21812182; Score: 0.53
DE  Interaction: Q15303; IntAct: EBI-20980446; Score: 0.37
DE  Interaction: P21860; IntAct: EBI-20981016; Score: 0.37
DE  Interaction: Q01974; IntAct: EBI-20981810; Score: 0.37
DE  Interaction: Q9NQ75; IntAct: EBI-21391292; Score: 0.00
DE  Interaction: Q9NRI5; IntAct: EBI-21391280; Score: 0.00
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: A4FU01; IntAct: EBI-27113520; Score: 0.35
DE  Interaction: Q13613; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: P68363; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: Q86WG5; IntAct: EBI-27113582; Score: 0.42
DE  Interaction: P19838; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: Q9NXD2; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: Q96QG7; IntAct: EBI-27113664; Score: 0.35
GO  GO:0030424;
GO  GO:0005737;
GO  GO:0005829;
GO  GO:0030425;
GO  GO:0043197;
GO  GO:0031901;
GO  GO:0070062;
GO  GO:0043231;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0014069;
GO  GO:0097060;
GO  GO:0008021;
GO  GO:0005774;
GO  GO:0042802;
GO  GO:0052629;
GO  GO:0004438;
GO  GO:0008138;
GO  GO:0097062;
GO  GO:0046855;
GO  GO:0032288;
GO  GO:0045806;
GO  GO:0090394;
GO  GO:0031642;
GO  GO:2000645;
GO  GO:0002091;
GO  GO:0048666;
GO  GO:0006661;
GO  GO:0046856;
GO  GO:2000643;
GO  GO:0006470;
GO  GO:0060304;
TP  Membrane Topology: Peripheral; Source: UniProt - Curator Inference {ECO:0000305};
SQ  MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPDLRVLRESNKLAEMEEPPLLP
SQ  GENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRN
SQ  LRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY
SQ  PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFD
SQ  ARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGAL
SQ  RIADKVESGKTSVVVHCSDGWDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF
SQ  LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYS
SQ  NHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQ
SQ  TVV
//