{"metadata":{"accession":"cd14590","entry_id":null,"type":"domain","go_terms":null,"source_database":"cdd","member_databases":null,"integrated":null,"hierarchy":null,"name":{"name":"protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 2","short":"PTP-MTMR2"},"description":[{"text":"<p>Myotubularin related phosphoinositide phosphatase 2 (MTMR2) is enzymatically active and contains an additional N-terminal PH-GRAM domain and C-terminal coiled-coiled domain and PDZ binding site. Mutations in MTMR2 causes Charcot-Marie-Tooth type 4B1, a severe childhood-onset neuromuscular disorder, characterized by demyelination and redundant loops of myelin known as myelin outfoldings, a similar phenotype as mutations in MTMR13. MTMR13, an inactive phosphatase, is believed to interact with MTMR2 and stimulate its phosphatase activity. In general, myotubularins are a unique subgroup of protein tyrosine phosphatases that use inositol phospholipids, rather than phosphoproteins, as substrates. They dephosphorylate the D-3 position of phosphatidylinositol 3-phosphate [PI(3)P] and phosphatidylinositol 3,5-bisphosphate [PI(3,5)P2], generating phosphatidylinositol and phosphatidylinositol 5-phosphate [PI(5)P], respectively. [[cite:PUB00144806], [cite:PUB00142739], [cite:PUB00144807], [cite:PUB00144808], [cite:PUB00144809], [cite:PUB00141651], [cite:PUB00039007], [cite:PUB00144810], [cite:PUB00073215], [cite:PUB00086395], [cite:PUB00138911], [cite:PUB00138912], [cite:PUB00073246], [cite:PUB00096302], [cite:PUB00056895], [cite:PUB00096300], [cite:PUB00138879], [cite:PUB00033631], [cite:PUB00138878], [cite:PUB00043723]]</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00056895":{"PMID":17057753,"ISBN":null,"volume":"7","issue":"11","year":2006,"title":"Protein tyrosine phosphatases: from genes, to function, to disease.","URL":null,"raw_pages":"833-46","medline_journal":"Nat Rev Mol Cell Biol","ISO_journal":"Nat. Rev. Mol. Cell Biol.","authors":["Tonks NK."],"DOI_URL":"http://dx.doi.org/10.1038/nrm2039"},"PUB00138912":{"PMID":23086420,"ISBN":null,"volume":"362","issue":null,"year":2012,"title":"Myotubularin phosphoinositide phosphatases in human diseases.","URL":null,"raw_pages":"209-33","medline_journal":"Curr Top Microbiol Immunol","ISO_journal":"Curr Top Microbiol Immunol","authors":["Amoasii L","Hnia K","Laporte J."],"DOI_URL":null},"PUB00144807":{"PMID":23378027,"ISBN":null,"volume":"126","issue":"Pt 6","year":2013,"title":"Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.","URL":null,"raw_pages":"1333-44","medline_journal":"J Cell Sci","ISO_journal":"J Cell Sci","authors":["Franklin NE","Bonham CA","Xhabija B","Vacratsis PO."],"DOI_URL":null},"PUB00073215":{"PMID":15998640,"ISBN":null,"volume":"280","issue":"36","year":2005,"title":"The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.","URL":null,"raw_pages":"31699-707","medline_journal":"J Biol Chem","ISO_journal":"J. Biol. Chem.","authors":["Robinson FL","Dixon JE."],"DOI_URL":"http://dx.doi.org/10.1074/jbc.M505159200"},"PUB00141651":{"PMID":19912440,"ISBN":null,"volume":"15","issue":"2","year":2011,"title":"The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling.","URL":null,"raw_pages":"307-15","medline_journal":"J Cell Mol Med","ISO_journal":"J Cell Mol Med","authors":["Berger P","Tersar K","Ballmer-Hofer K","Suter U."],"DOI_URL":null},"PUB00033631":{"PMID":11395408,"ISBN":null,"volume":"70","issue":null,"year":2001,"title":"PTEN and myotubularin: novel phosphoinositide phosphatases.","URL":null,"raw_pages":"247-79","medline_journal":"Annu Rev Biochem","ISO_journal":"Annu. Rev. Biochem.","authors":["Maehama T","Taylor GS","Dixon JE."],"DOI_URL":"http://dx.doi.org/10.1146/annurev.biochem.70.1.247"},"PUB00086395":{"PMID":16289848,"ISBN":null,"volume":"15","issue":"6","year":2005,"title":"The structure and regulation of myotubularin phosphatases.","URL":null,"raw_pages":"614-20","medline_journal":"Curr Opin Struct Biol","ISO_journal":"Curr. Opin. Struct. Biol.","authors":["Begley MJ","Dixon JE."],"DOI_URL":"https://doi.org/10.1016/j.sbi.2005.10.016"},"PUB00144808":{"PMID":21372139,"ISBN":null,"volume":"286","issue":"18","year":2011,"title":"Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.","URL":null,"raw_pages":"15841-53","medline_journal":"J Biol Chem","ISO_journal":"J Biol Chem","authors":["Franklin NE","Taylor GS","Vacratsis PO."],"DOI_URL":null},"PUB00144809":{"PMID":20410104,"ISBN":null,"volume":"30","issue":"16","year":2010,"title":"The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.","URL":null,"raw_pages":"5508-18","medline_journal":"J Neurosci","ISO_journal":"J Neurosci","authors":["Lee HW","Kim Y","Han K","Kim H","Kim E."],"DOI_URL":null},"PUB00142739":{"PMID":23297362,"ISBN":null,"volume":"22","issue":"8","year":2013,"title":"The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.","URL":null,"raw_pages":"1493-506","medline_journal":"Hum Mol Genet","ISO_journal":"Hum Mol Genet","authors":["Ng AA","Logan AM","Schmidt EJ","Robinson FL."],"DOI_URL":null},"PUB00138879":{"PMID":12495846,"ISBN":null,"volume":"12","issue":"12","year":2002,"title":"PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.","URL":null,"raw_pages":"579-85","medline_journal":"Trends Cell Biol","ISO_journal":"Trends Cell Biol","authors":["Wishart MJ","Dixon JE."],"DOI_URL":null},"PUB00144806":{"PMID":27466180,"ISBN":null,"volume":"25","issue":"18","year":2016,"title":"SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.","URL":null,"raw_pages":"3925-3936","medline_journal":"Hum Mol Genet","ISO_journal":"Hum Mol Genet","authors":["Fogarty EA","Brewer MH","Rodriguez-Molina JF","Law WD","Ma KH","Steinberg NM","Svaren J","Antonellis A."],"DOI_URL":null},"PUB00138911":{"PMID":27666502,"ISBN":null,"volume":"63","issue":null,"year":2017,"title":"WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.","URL":null,"raw_pages":"49-58","medline_journal":"Adv Biol Regul","ISO_journal":"Adv Biol Regul","authors":["Raess MA","Friant S","Cowling BS","Laporte J."],"DOI_URL":null},"PUB00096302":{"PMID":27514797,"ISBN":null,"volume":"1447","issue":null,"year":2016,"title":"The Extended Family of Protein Tyrosine Phosphatases.","URL":null,"raw_pages":"1-23","medline_journal":"Methods Mol Biol","ISO_journal":"Methods Mol Biol","authors":["Alonso A","Nunes-Xavier CE","Bayon Y","Pulido R."],"DOI_URL":null},"PUB00096300":{"PMID":26573778,"ISBN":null,"volume":"283","issue":"8","year":2016,"title":"The extended human PTPome: a growing tyrosine phosphatase family.","URL":null,"raw_pages":"1404-29","medline_journal":"FEBS J","ISO_journal":"FEBS J","authors":["Alonso A","Pulido R."],"DOI_URL":null},"PUB00039007":{"PMID":16410353,"ISBN":null,"volume":"103","issue":"4","year":2006,"title":"Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.","URL":null,"raw_pages":"927-32","medline_journal":"Proc Natl Acad Sci U S A","ISO_journal":"Proc. Natl. Acad. Sci. U.S.A.","authors":["Begley MJ","Taylor GS","Brock MA","Ghosh P","Woods VL","Dixon JE."],"DOI_URL":"http://dx.doi.org/10.1073/pnas.0510006103"},"PUB00043723":{"PMID":16828287,"ISBN":null,"volume":"16","issue":"8","year":2006,"title":"Myotubularin phosphatases: policing 3-phosphoinositides.","URL":null,"raw_pages":"403-12","medline_journal":"Trends Cell Biol","ISO_journal":"Trends Cell Biol.","authors":["Robinson FL","Dixon JE."],"DOI_URL":"http://dx.doi.org/10.1016/j.tcb.2006.06.001"},"PUB00144810":{"PMID":16162938,"ISBN":null,"volume":"25","issue":"37","year":2005,"title":"Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.","URL":null,"raw_pages":"8567-77","medline_journal":"J Neurosci","ISO_journal":"J Neurosci","authors":["Bolis A","Coviello S","Bussini S","Dina G","Pardini C","Previtali SC","Malaguti M","Morana P","Del Carro U","Feltri ML","Quattrini A","Wrabetz L","Bolino A."],"DOI_URL":null},"PUB00138878":{"PMID":17917119,"ISBN":null,"volume":"35","issue":"3","year":2007,"title":"Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.","URL":null,"raw_pages":"308-16","medline_journal":"Mol Neurobiol","ISO_journal":"Mol Neurobiol","authors":["Bolis A","Zordan P","Coviello S","Bolino A."],"DOI_URL":null},"PUB00073246":{"PMID":12925573,"ISBN":null,"volume":"12 Spec No 2","issue":null,"year":2003,"title":"Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.","URL":null,"raw_pages":"R285-92","medline_journal":"Hum Mol Genet","ISO_journal":"Hum. Mol. Genet.","authors":["Laporte J","Bedez F","Bolino A","Mandel JL."],"DOI_URL":"http://dx.doi.org/10.1093/hmg/ddg273"}},"set_info":{"accession":"cl28904","name":"PTP_DSP_cys"},"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":0,"interactions":0,"matches":988,"pathways":0,"proteins":988,"proteomes":568,"sets":1,"structural_models":{"alphafold":917},"structures":5,"taxa":1735},"entry_annotations":{},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}