MTMR2 explained

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.^{[1] [2] [3] [4]}

Function

This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.^[1] 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, but the biological validity of some variants has not been determined.

Interactions

MTMR2 has been shown to interact with SBF1.^[5]

Further reading

• Previtali SC, Quattrini A, Bolino A . Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases . Expert Rev Mol Med . 9 . 25 . 1–16 . 2007 . 17880751 . 10.1017/S1462399407000439 . 8602743 .
• Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE . Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase . Proc. Natl. Acad. Sci. U.S.A. . 103 . 4 . 927–32 . 2006 . 16410353 . 1347996 . 10.1073/pnas.0510006103 . 2006PNAS..103..927B . free .
• Robinson FL, Dixon JE . The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease . J. Biol. Chem. . 280 . 36 . 31699–707 . 2005 . 15998640 . 10.1074/jbc.M505159200 . free .
• Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA . Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome . Mol. Cell . 12 . 6 . 1391–402 . 2003 . 14690594 . 10.1016/S1097-2765(03)00486-6 . free .
• Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A . Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve . Hum. Mol. Genet. . 12 . 14 . 1713–23 . 2003 . 12837694 . 10.1093/hmg/ddg179 . free .
• Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE . Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase . Proc. Natl. Acad. Sci. U.S.A. . 100 . 8 . 4492–7 . 2003 . 12668758 . 153583 . 10.1073/pnas.0431052100 . 2003PNAS..100.4492K . free .
• Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H . A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths . Neuromuscul. Disord. . 12 . 9 . 869–73 . 2002 . 12398840 . 10.1016/S0960-8966(02)00046-9 . 1140443 .
• Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP . Irena Hausmanowa-Petrusewicz . Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 . Nat. Genet. . 25 . 1 . 17–9 . 2000 . 10802647 . 10.1038/75542 . 8983559 .
• Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP . Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 . Genomics . 63 . 2 . 271–8 . 2000 . 10673338 . 10.1006/geno.1999.6088 .
• Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 6 . 3 . 197–205 . 1999 . 10470851 . 10.1093/dnares/6.3.197 . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4

Notes and References

1. Web site: RecName: Full=Myotubularin-related protein 2; AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; AltName: Full=Phosphatidylinositol-3-phosphate phosphatase . March 7, 2020.
2. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N . A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast . Nat. Genet. . 13 . 2 . 175–82 . Jul 1996 . 8640223 . 10.1038/ng0696-175 . 30028223 .
3. Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL . Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human . Hum. Mol. Genet. . 7 . 11 . 1703–12 . Dec 1998 . 9736772 . 10.1093/hmg/7.11.1703 . free .
4. Web site: Entrez Gene: MTMR2 myotubularin related protein 2.
5. Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE . Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase . Proc. Natl. Acad. Sci. U.S.A. . 100 . 8 . 4492–7 . Apr 2003 . 12668758 . 153583 . 10.1073/pnas.0431052100 . 2003PNAS..100.4492K . free .