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Description for Protein C2

complement component 2
5 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SUSHI: Sushi domain (SCR repeat)
  • VWA: von Willebrand factor (vWF) type A domain
  • TRYPSIN: Trypsin-like serine protease
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.21.43
    KEGG - Orthology:
    K01332
    KEGG - Pathway(s):
    hsa04610; hsa05322
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    C3/C5 convertase
    Approved Symbol:
    C2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • C2 deficiency, type I(Pd);
  • C2 deficiency, type II(Pd);
  • Macular degeneration, age-related, reduced risk of(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08939 Entrez Gene ID: 717 OMIM ID: 217000 Swissprot Accession: Q53HP3; P06681; Q5JP69;