MTMR2

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]

MTMR2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMTMR2, CMT4B, CMT4B1, myotubularin related protein 2
External IDsOMIM: 603557 MGI: 1924366 HomoloGene: 22951 GeneCards: MTMR2
EC number3.1.3.64
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q21Start95,832,882 bp[1]
End95,925,315 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8898

77116

Ensembl

ENSG00000087053

ENSMUSG00000031918

UniProt

Q13614

Q9Z2D1

RefSeq (mRNA)

NM_001243571
NM_016156
NM_201278
NM_201281

RefSeq (protein)

NP_001230500
NP_057240
NP_958435
NP_958438

Location (UCSC)Chr 11: 95.83 – 95.93 MbChr 9: 13.75 – 13.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. doi:10.1073/pnas.0431052100. PMC 153583. PMID 12668758.

Further reading


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