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FLASH GENE
Symbol C2 contributors: npt/ - updated : 27-07-2006
HGNC name complement component 2
HGNC id 1248
Corresponding disease
C2 complement component 2 deficiency
Location 6p21.3      Physical location : 3.154.357 - 31.913.448
Synonym name C3/C5 convertase
Synonym symbol(s) CO2, DKFZp779M0311
EC.number 3.4.21.43
DNA
TYPE functioning gene
STRUCTURE 18.13 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
BAT3 6p21.33 HLA-B associated transcript 3 APOM 6p21.31 apolipoprotein M C6orf47 6p21.3 chromosome 6 open reading frame 47 BAT4 6p21.33 HLA-B associated transcript 4 CSNK2B 6p21.3 casein kinase 2, beta polypeptide LY6G5B 6p21.3 lymphocyte antigen 6 complex, locus G5B LY6G5C 6p21.3 lymphocyte antigen 6 complex, locus G5C BAT5 6p21.33 HLA-B associated transcript 5 LY6G6D 6p21.3 lymphocyte antigen 6 complex, locus G6D LY6G6E 6p21.3 lymphocyte antigen 6 complex, locus G6E LY6G6C 6p21.3 lymphocyte antigen 6 complex, locus G6C C6orf25 6p21.3 chromosome 6 open reading frame 25 DDAH2 6p21.3 dimethylarginine dimethylaminohydrolase 2 CLIC1 6p21.3 chloride intracellular channel 1 MSH5 6p21.3 mutS homolog 5 (E. coli) C6orf27 6p21.31 chromosome 6 open reading frame 27 VARS2 6p21.3 valyl-tRNA synthetase 2 LSM2 6p21.3 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) HSPA1L 6p21.3 heat shock 70kDa protein 1-like HSPA1A 6p21.3 heat shock 70kDa protein 1A HSPA1B 6p21.3 heat shock 70kDa protein 1B C6orf48 6p21.3 chromosome 6 open reading frame 48 NEU1 6p21.3 sialidase 1 (lysosomal sialidase) C6orf29 6p21.3 chromosome 6 open reading frame 29 BAT8 6p21.31 HLA-B associated transcript 8 C6orf46 6p21.31 chromosome 6 open reading frame 46 C2 6p21.3 complement component 2 BF 6p21.3 B-factor, properdin RDBP 6p21.33 RD RNA binding protein SKIV2L 6p21.3 superkiller viralicidic activity 2-like (S. cerevisiae) DOM3Z 6p21.3 dom-3 homolog Z (C. elegans) STK19 6p21.3 serine/threonine kinase 19 C4B 6p21.3 complement component 4B CYP21A2 6p21.3 cytochrome P450, family 21, subfamily A, polypeptide 2 TNXB 6p21.3 tenascin XB
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 2867 - 752 - -
- - 2016 - 538 - -
- - 2471 - 620 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Lymphoid/Immunespleen   highly
 thymus    
cell lineage
cell lines
fluid/secretion plasma
at STAGE
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