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FLASH GENE
Symbol C2 contributors: npt/ - updated : 27-07-2006
HGNC name complement component 2
HGNC id 1248
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one von Willibrand factor domain complement control protein domains
  • three short consensus repeats, sushi structure (see F13B, SRCP1)
    • isoforms Precursor cleaved into C2a and C2b forms
    HOMOLOGY
    interspecies homolog to murine C2
    Homologene
    FAMILY
  • serine protease/trypsin family
  • peptidase S1 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • part of the classical pathway of the complement system cleaved by activated factor C1 into two fragments : C2B and C2A
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • C2A combining with C4B to form the C3/C5 convertase complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by the active C1s to form C2a and C2b
    Other combining with C4A and C4B to form C3/C5 convertase
    ASSOCIATED DISORDERS
    corresponding disease(s) C2
    related resource C2base - Mutation registry for C2 deficiency
    Susceptibility to age related macular dystrophy
    Variant & Polymorphism other variant E318D associated to variant L9H of CFB protecting against age related macular dystrophy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS