MTMR2

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 95,821,766 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 Bgee Human Mouse (ortholog) Top expressed in sperm parotid gland tibia stromal cell of endometrium Achilles tendon corpus callosum bronchial epithelial cell islet of Langerhans right ventricle synovial joint Top expressed in spermatocyte spermatid secondary oocyte interventricular septum visual cortex yolk sac superior frontal gyrus cerebellar cortex lip abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity phosphatase activity 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 nucleus 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: 95.82 – 95.93 Mb Chr 9: 13.75 – 13.81 Mb PubMed search [3] [4]
Wikidata
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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]}

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. S2CID   30028223.
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. Bibcode:2003PNAS..100.4492K. 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. S2CID   8602743.
• 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. Bibcode:2006PNAS..103..927B. 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. Bibcode:2003PNAS..100.4492K. 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. S2CID   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 (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. S2CID   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 (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