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Description for Protein MTMR2

myotubularin related protein 2
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the myotubularin family. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. 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 for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • GRAM: domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.3.-
    KEGG - Orthology:
    K01112
    KEGG - Pathway(s):
    hsa00051; hsa00730; hsa00740; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    KIAA1073; CMT4B; CMT4B1; EC 3.1.3; Myotubularin-related protein 2 isoform 1; Myotubularin-related protein 2 isoform 2
    Approved Symbol:
    MTMR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Charcot-Marie-tooth disease, type 4b1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04650 Entrez Gene ID: 8898 OMIM ID: 603557 Swissprot Accession: Q13614;