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Description for Protein DSC2

desmocollin 2
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • Cadherin: Cadherin repeats
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07601
    KEGG - Pathway(s):
    hsa05412
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Desmocollin 2 isoform Dsc2b preproprotein; Desmocollin 2 isoform Dsc2a preproprotein; Desmosomal Glycoprotein II/III; DG2/3; DG2; Desmocollin 2A/2B; Desmocollin II; Type II desmocollin
    Approved Symbol:
    DSC2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; 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:

  • Arrhythmogenic right ventricular dysplasia, familial, 11(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 00512 Entrez Gene ID: 1824 OMIM ID: 125645 Swissprot Accession: Q02487;