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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_MTMR2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lw3.
| PDB = {{PDB2|1lw3}}, {{PDB2|1m7r}}, {{PDB2|1zsq}}, {{PDB2|1zvr}}
| Name = Myotubularin related protein 2
| HGNCid = 7450
| Symbol = MTMR2
| AltSymbols =; CMT4B; CMT4B1; KIAA1073
| OMIM = 603557
| ECnumber = 
| Homologene = 22951
| MGIid = 1924366
| GeneAtlas_image1 = PBB_GE_MTMR2_214649_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MTMR2_203211_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_MTMR2_203212_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004437 |text = inositol or phosphatidylinositol phosphatase activity}} {{GNF_GO|id=GO:0004721 |text = phosphoprotein phosphatase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008138 |text = protein tyrosine/serine/threonine phosphatase activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006470 |text = protein amino acid dephosphorylation}} {{GNF_GO|id=GO:0046839 |text = phospholipid dephosphorylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8898
    | Hs_Ensembl = ENSG00000087053
    | Hs_RefseqProtein = NP_057240
    | Hs_RefseqmRNA = NM_016156
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 95205694
    | Hs_GenLoc_end = 95297107
    | Hs_Uniprot = Q13614
    | Mm_EntrezGene = 77116
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_023858
    | Mm_RefseqProtein = NP_076347
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Myotubularin related protein 2''', also known as '''MTMR2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8898| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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" />
{{PBB_Summary
| section_title =
| summary_text = 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">{{cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8898| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==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}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 | author=Previtali SC, Quattrini A, Bolino A |title=Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. |journal=Expert reviews in molecular medicine |volume=9 |issue= 25 |pages= 1-16 |year= 2007 |pmid= 17880751 |doi= 10.1017/S1462399407000439 }}
* {{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 | author=Begley MJ, Taylor GS, Brock MA, ''et al.'' |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 |doi= 10.1073/pnas.0510006103 }}
* {{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 | author=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 | 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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
* {{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  | author=Begley MJ, Taylor GS, Kim SA, ''et al.'' |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= 2004 |pmid= 14690594 |doi= }}
* {{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 | author=Previtali SC, Zerega B, Sherman DL, ''et al.'' |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= }}
* {{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 | author=Kim SA, Vacratsis PO, Firestein R, ''et al.'' |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 |doi= 10.1073/pnas.0431052100 }}
* {{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{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 | author=Nelis E, Erdem S, Tan E, ''et al.'' |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= 2003 |pmid= 12398840 |doi= }}
*{{cite journal | author=Bolino A, Muglia M, Conforti FL, ''et al.'' |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 | author=Bolino A, Levy ER, Muglia M, ''et al.'' |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 | author=Kikuno R, Nagase T, Ishikawa K, ''et al.'' |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= }}
*{{cite journal  | author=Laporte J, Blondeau F, Buj-Bello A, ''et al.'' |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 |year= 1998 |pmid= 9736772 |doi=  }}
*{{cite journal  | author=Laporte J, Hu LJ, Kretz C, ''et al.'' |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 |year= 1996 |pmid= 8640223 |doi= 10.1038/ng0696-175 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [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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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 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. ↑ 3.0 3.1 "Entrez Gene: MTMR2 myotubularin related protein 2".
  4. ↑ 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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