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Description for Protein TINF2

TERF1 (TRF1)-interacting nuclear factor 2
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K11112
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    TIN2; TERF1 (TRF1)-interacting nuclear factor 2
    Approved Symbol:
    TINF2
    (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:

    None Available
    Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 16056 Entrez Gene ID: 26277 OMIM ID: 604319 Swissprot Accession: Q9BSI4