MTMR2

Myotubularin related protein 2
File:PBB Protein MTMR2 image.jpg PDB rendering based on 1lw3.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1lw3​, 1m7r​, 1zsq​, 1zvr​
Identifiers
Symbols	MTMR2 ; CMT4B; CMT4B1; KIAA1073
External IDs	Template:OMIM5 Template:MGI HomoloGene: 22951
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MTMR2 214649 s at tn.png
File:PBB GE MTMR2 203211 s at tn.png
File:PBB GE MTMR2 203212 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Myotubularin related protein 2, also known as MTMR2, is a human gene.

This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. 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.

Further reading

• Previtali SC, Quattrini A, Bolino A (2007). "Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases". Expert reviews in molecular medicine. 9 (25): 1–16. doi:10.1017/S1462399407000439. PMID 17880751.CS1 maint: Multiple names: authors list (link)
• Begley MJ, Taylor GS, Brock MA; et al. (2006). "Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase". Proc. Natl. Acad. Sci. U.S.A. 103 (4): 927–32. doi:10.1073/pnas.0510006103. PMID 16410353.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Robinson FL, Dixon JE (2005). "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. doi:10.1074/jbc.M505159200. PMID 15998640.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Begley MJ, Taylor GS, Kim SA; et al. (2004). "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell. 12 (6): 1391–402. PMID 14690594.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Previtali SC, Zerega B, Sherman DL; et al. (2003). "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. PMID 12837694.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kim SA, Vacratsis PO, Firestein R; et al. (2003). "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. doi:10.1073/pnas.0431052100. PMID 12668758.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nelis E, Erdem S, Tan E; et al. (2003). "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. PMID 12398840.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bolino A, Muglia M, Conforti FL; et al. (2000). "Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2". Nat. Genet. 25 (1): 17–9. doi:10.1038/75542. PMID 10802647.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bolino A, Levy ER, Muglia M; et al. (2000). "Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22". Genomics. 63 (2): 271–8. doi:10.1006/geno.1999.6088. PMID 10673338.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kikuno R, Nagase T, Ishikawa K; et al. (1999). "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. PMID 10470851.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Laporte J, Blondeau F, Buj-Bello A; et al. (1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. PMID 9736772.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Laporte J, Hu LJ, Kretz C; et al. (1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)