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Description for Protein SBF2

SET binding factor 2
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PH: Pleckstrin homology domain.
  • GRAM: domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Myotubularin related 13; MTMR13; KIAA1766
    Approved Symbol:
    SBF2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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 4B2(Pd);
  • Charcot-Marie-tooth disease, type 4B2, with early-onset glaucoma(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09649 Entrez Gene ID: 81846 OMIM ID: 607697 Swissprot Accession: Q86WG5;