Mtmr2

Summary

Gene Symbol: Mtmr2
Description: myotubularin related protein 2
Alias: 6030445P13Rik, myotubularin-related protein 2, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
Species: mouse
Products:     Mtmr2

Top Publications

  1. Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali S, et al. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci. 2005;25:8567-77 pubmed
    Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1)...
  2. Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, et al. An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2005;14:3685-95 pubmed
    ..To this end, we introduced a stop codon into the Mtmr2 locus within exon 9, at the position encoding amino acid 276 of the MTMR2 protein (E276X)...
  3. Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, et al. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Gene. 2002;283:17-26 pubmed
    Charcot-Marie-Tooth type 4B (CMT4B) is caused by mutations in the myotubularin-related 2 gene, MTMR2, on chromosome 11q22. To date, six loss of function mutations and one missense mutation have been demonstrated in CMT4B patients...
  4. Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti A, et al. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J Neurosci. 2009;29:8858-70 pubmed publisher
    ..We previously reported that loss of myotubularin-related protein 2 (MTMR2) provokes autosomal recessive demyelinating Charcot-Marie-Tooth type 4B1 neuropathy, characterized by excessive ..
  5. Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006;15:569-79 pubmed
    Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both ..
  6. Bolino A, Bolis A, Previtali S, Dina G, Bussini S, Dati G, et al. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol. 2004;167:711-21 pubmed
    Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth (CMT) type 4B1, a demyelinating neuropathy with myelin outfolding and azoospermia...
  7. Previtali S, Zerega B, Sherman D, Brophy P, Dina G, King R, et al. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet. 2003;12:1713-23 pubmed
    ..autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates include phosphoinositides...
  8. Berger P, Bonneick S, Willi S, Wymann M, Suter U. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2002;11:1569-79 pubmed
    Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded ..
  9. Berger P, Schaffitzel C, Berger I, Ban N, Suter U. Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. Proc Natl Acad Sci U S A. 2003;100:12177-82 pubmed
    Mutations in the myotubularin (MTM)-related protein 2 (MTMR2) gene are responsible for the severe autosomal recessive neuropathy Charcot-Marie-Tooth disease type 4B1...

More Information

Publications17

  1. Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka K, et al. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet. 2007;16:2991-3001 pubmed
    ..Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes CMT4B1 ..
  2. Dacci P, Dina G, Cerri F, Previtali S, Lopez I, Lauria G, et al. Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia. 2010;58:2005-16 pubmed publisher
    ..Our data indicate that SB may reveal distal axonal pathology in mouse models and permits sequential follow-up of the neuropathy in an individual mouse, thereby reducing the number of mice necessary to document pathology of the PNS. ..
  3. Ng A, Logan A, Schmidt E, Robinson F. 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. Hum Mol Genet. 2013;22:1493-506 pubmed publisher
    ..CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-..
  4. Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
    ..Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases. ..
  5. Raess M, Cowling B, Bertazzi D, Kretz C, Rinaldi B, Xuereb J, et al. Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Hum Mol Genet. 2017;26:3736-3748 pubmed publisher
    ..called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy...
  6. Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, et al. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet. 2011;7:e1002319 pubmed publisher
    ..recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease...
  7. Xie Q, Yang Y, Huang J, Ninkovic J, Walcher T, Wolf L, et al. Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. PLoS ONE. 2013;8:e54507 pubmed publisher
    ..combined with in vivo Pax6-binding data yielded 76 putative Pax6-direct targets, including the Gaa, Isl1, Kif1b, Mtmr2, Pcsk1n, and Snca genes. RNA and ChIP data were validated for all these genes...
  8. Berger P, Tersar K, Ballmer Hofer K, Suter U. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. J Cell Mol Med. 2011;15:307-15 pubmed publisher
    ..type 4B is caused by mutations in the genes encoding either the lipid phosphatase myotubularin-related protein-2 (MTMR2) or its regulatory binding partner MTMR13/SBF2...