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Myotubularin Related Protein 2 (MTMR2)

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CMT4B; CMT4B1; •Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase

Myotubularin Related Protein 2 (MTMR2)
CCC F612
HGNC 7450
MGI 1924366
PubMed 15557122
RGD 1311865
UniProt Q13614
Wiki MTMR2
Myotubularin-related protein 2 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.
In contrast, MTMR2 was detected in the nucleus of Schwann cells and motor neurons, but not in the nucleus of sensory neurons. NFL interacted with MTMR2 in yeast 2-hybrid screenings using both fetal brain and peripheral nerve libraries and was found to interact with MTMR2 in both Schwann cells and neurons.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myotubularin Related Protein 2 (MTMR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myotubularin Related Protein 2 (MTMR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myotubularin Related Protein 2 (MTMR2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myotubularin Related Protein 2 (MTMR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myotubularin Related Protein 2 (MTMR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myotubularin Related Protein 2 (MTMR2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Myotubularin Related Protein 2 (MTMR2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Myotubularin Related Protein 2 (MTMR2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myotubularin Related Protein 2 (MTMR2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myotubularin Related Protein 2 (MTMR2) ELISA Kit Customized Service Offer
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  7. "Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2."Nat. Genet. 25:17-19(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease."J. Biol. Chem. 277:4526-4531(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase."Proc. Natl. Acad. Sci. U.S.A. 100:4492-4497(2003) [PubMed] [Europe PMC] [Abstract]
  10. "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease."J. Biol. Chem. 280:31699-31707(2005) [PubMed] [Europe PMC] [Abstract]
  11. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site."J. Biol. Chem. 286:15841-15853(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome."Mol. Cell 12:1391-1402(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase."Proc. Natl. Acad. Sci. U.S.A. 103:927-932(2006) [PubMed] [Europe PMC] [Abstract]
  18. "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. 12:869-873(2002) [PubMed] [Europe PMC] [Abstract]