MTMR2

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.[5][6][7][8]

MTMR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1LW3, 1M7R, 1ZSQ, 1ZVR
Identifiers
Aliases	MTMR2, CMT4B, CMT4B1, myotubularin related protein 2
External IDs	OMIM: 603557 MGI: 1924366 HomoloGene: 22951 GeneCards: MTMR2
EC number	3.1.3.64
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q21 Start 95,832,882 bp[1] End 95,925,315 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A1 Start 13,748,410 bp[2] End 13,806,481 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein homodimerization activity • phosphatase activity • GO:0001948 protein binding • protein tyrosine phosphatase activity • phosphatidylinositol phosphate phosphatase activity • hydrolase activity • protein tyrosine/serine/threonine phosphatase activity • phosphatidylinositol-3-phosphatase activity • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component • cytoplasm • synaptic membrane • cytosol • endosome • early endosome membrane • membrane • vacuolar membrane • synaptic vesicle • dendritic spine • axon • dendrite • extracellular exosome • cell nucleus • GO:0097483, GO:0097481 postsynaptic density • intracellular membrane-bounded organelle • endosome membrane • cell projection • perinuclear region of cytoplasm Biological process • negative regulation of endocytosis • phosphatidylinositol metabolic process • negative regulation of receptor catabolic process • myelin assembly • lipid metabolism • negative regulation of receptor internalization • protein dephosphorylation • neuron development • protein tetramerization • negative regulation of excitatory postsynaptic potential • dendritic spine maintenance • phosphatidylinositol dephosphorylation • positive regulation of early endosome to late endosome transport • phosphatidylinositol biosynthetic process • peptidyl-tyrosine dephosphorylation • negative regulation of myelination • inositol phosphate dephosphorylation • dephosphorylation • regulation of phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8898	77116
Ensembl	ENSG00000087053	ENSMUSG00000031918
UniProt	Q13614	Q9Z2D1
RefSeq (mRNA)	NM_001243571 NM_016156 NM_201278 NM_201281	NM_023858 NM_001372573 NM_001373873 NM_001373874 NM_001373875 NM_001373876 NM_001373877 NM_001373878
RefSeq (protein)	NP_001230500 NP_057240 NP_958435 NP_958438	NP_076347 NP_001359502 NP_001360802 NP_001360803 NP_001360804 NP_001360805 NP_001360806 NP_001360807
Location (UCSC)	Chr 11: 95.83 – 95.93 Mb	Chr 9: 13.75 – 13.81 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.[5] 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.[8]

Interactions

MTMR2 has been shown to interact with SBF1.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000087053 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031918 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "RecName: Full=Myotubularin-related protein 2; AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; AltName: Full=Phosphatidylinositol-3-phosphate phosphatase". Retrieved March 7, 2020.
6. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 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.
7. Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
8. "Entrez Gene: MTMR2 myotubularin related protein 2".
9. Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (Apr 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. PMC 153583. PMID 12668758.

Further reading

• Previtali SC, Quattrini A, Bolino A (2007). "Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases". Expert Rev Mol Med. 9 (25): 1–16. doi:10.1017/S1462399407000439. PMID 17880751.
• Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE (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. PMC 1347996. PMID 16410353.
• 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.
• Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (2003). "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell. 12 (6): 1391–402. doi:10.1016/S1097-2765(03)00486-6. PMID 14690594.
• 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 (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. doi:10.1093/hmg/ddg179. PMID 12837694.
• Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (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. PMC 153583. PMID 12668758.
• Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H (2002). "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. doi:10.1016/S0960-8966(02)00046-9. PMID 12398840.
• 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 (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.
• 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 (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.
• Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (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. doi:10.1093/dnares/6.3.197. PMID 10470851.

External links

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