MTMR2

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Myotubularin related protein 2
Protein MTMR2 PDB 1lw3.png
PDB rendering based on 1lw3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MTMR2 ; CMT4B; CMT4B1
External IDs OMIM603557 MGI1924366 HomoloGene22951 GeneCards: MTMR2 Gene
RNA expression pattern
PBB GE MTMR2 214649 s at tn.png
PBB GE MTMR2 203211 s at tn.png
PBB GE MTMR2 203212 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8898 77116
Ensembl ENSG00000087053 ENSMUSG00000031918
UniProt Q13614 Q9Z2D1
RefSeq (mRNA) NM_001243571 NM_023858
RefSeq (protein) NP_001230500 NP_076347
Location (UCSC) Chr 11:
95.57 – 95.66 Mb
Chr 9:
13.75 – 13.81 Mb
PubMed search [1] [2]

Myotubularin-related protein 2 is a protein that in humans is encoded by the MTMR2 gene.[1][2][3]

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[edit]

MTMR2 has been shown to interact with SBF1.[4]

References[edit]

  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. ^ a b "Entrez Gene: MTMR2 myotubularin related protein 2". 
  4. ^ Kim, Soo-A; Vacratsis Panayiotis O, Firestein Ron, Cleary Michael L, Dixon Jack E (Apr 2003). "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase". Proc. Natl. Acad. Sci. U.S.A. (United States) 100 (8): 4492–7. doi:10.1073/pnas.0431052100. ISSN 0027-8424. PMC 153583. PMID 12668758. 

Further reading[edit]

External links[edit]