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{{ | '''Myotubularin-related protein 2''' is a [[protein]] that in humans is encoded by the ''MTMR2'' [[gene]].<ref name="pmid8640223">{{cite journal | vauthors = Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N | title = A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast | journal = Nat. Genet. | volume = 13 | issue = 2 | pages = 175–82 | date = Jul 1996 | pmid = 8640223 | pmc = | doi = 10.1038/ng0696-175 }}</ref><ref name="pmid9736772">{{cite journal | vauthors = Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL | title = Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human | journal = Hum. Mol. Genet. | volume = 7 | issue = 11 | pages = 1703–12 | date = Dec 1998 | pmid = 9736772 | pmc = | doi = 10.1093/hmg/7.11.1703 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8898| accessdate = }}</ref> | ||
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== Function == | |||
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.<ref name="entrez" /> | |||
==References== | == Interactions == | ||
{{reflist | |||
==Further reading== | MTMR2 has been shown to [[Protein-protein interaction|interact]] with [[SBF1]].<ref name=pmid12668758>{{cite journal | vauthors = Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE | title = Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 8 | pages = 4492–7 | date = Apr 2003 | pmid = 12668758 | pmc = 153583 | doi = 10.1073/pnas.0431052100 }}</ref> | ||
== References == | |||
{{reflist}} | |||
== Further reading == | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Previtali SC, Quattrini A, Bolino A | title = Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases | journal = Expert Rev Mol Med | volume = 9 | issue = 25 | pages = 1–16 | year = 2007 | pmid = 17880751 | doi = 10.1017/S1462399407000439 }} | |||
* {{cite journal | vauthors = Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE | title = Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 103 | issue = 4 | pages = 927–32 | year = 2006 | pmid = 16410353 | pmc = 1347996 | doi = 10.1073/pnas.0510006103 }} | |||
*{{cite journal | * {{cite journal | vauthors = Robinson FL, Dixon JE | title = The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease | journal = J. Biol. Chem. | volume = 280 | issue = 36 | pages = 31699–707 | year = 2005 | pmid = 15998640 | doi = 10.1074/jbc.M505159200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA | title = Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome | journal = Mol. Cell | volume = 12 | issue = 6 | pages = 1391–402 | year = 2003 | pmid = 14690594 | doi = 10.1016/S1097-2765(03)00486-6 }} | ||
*{{cite journal | * {{cite journal | vauthors = 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 | title = Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve | journal = Hum. Mol. Genet. | volume = 12 | issue = 14 | pages = 1713–23 | year = 2003 | pmid = 12837694 | doi = 10.1093/hmg/ddg179 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE | title = Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 8 | pages = 4492–7 | year = 2003 | pmid = 12668758 | pmc = 153583 | doi = 10.1073/pnas.0431052100 }} | ||
* {{cite journal | vauthors = Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H | title = A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths | journal = Neuromuscul. Disord. | volume = 12 | issue = 9 | pages = 869–73 | year = 2002 | pmid = 12398840 | doi = 10.1016/S0960-8966(02)00046-9 }} | |||
*{{cite journal | * {{cite journal | vauthors = 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 | title = Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 | journal = Nat. Genet. | volume = 25 | issue = 1 | pages = 17–9 | year = 2000 | pmid = 10802647 | doi = 10.1038/75542 }} | ||
*{{cite journal | * {{cite journal | vauthors = 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 | title = Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 | journal = Genomics | volume = 63 | issue = 2 | pages = 271–8 | year = 2000 | pmid = 10673338 | doi = 10.1006/geno.1999.6088 }} | ||
* {{cite journal | vauthors = Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res. | volume = 6 | issue = 3 | pages = 197–205 | year = 1999 | pmid = 10470851 | doi = 10.1093/dnares/6.3.197 }} | |||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | == External links == | ||
{{ | * [https://www.ncbi.nlm.nih.gov/books/NBK1468/ GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4] | ||
{{PDB Gallery|geneid=8898}} | |||
{{Protein tyrosine phosphatases}} | |||
{{gene-11-stub}} |
Latest revision as of 07:02, 4 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Myotubularin-related protein 2 is a protein that in humans is encoded by the MTMR2 gene.[1][2][3]
Function
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.[3]
Interactions
MTMR2 has been shown to interact with SBF1.[4]
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: MTMR2 myotubularin related protein 2".
- ↑ 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
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