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FLASH GENE
Symbol C4A contributors: - updated : 27-07-2006
HGNC name complement component 4A
HGNC id 1323
Corresponding disease
C4A complement component 4A deficiency
RG Rodgers blood goup
Location 6p21.3      Physical location : 3.235.414 - 32.003.194
Synonym name RODGERS blood group
Synonym symbol(s) C4S
DNA
TYPE functioning gene
SPECIAL FEATURE
text
  • including the ZA transcript, embedded in intron 35 and overlapping exon 36 (?and others) in the same orientation
    • STRUCTURE 20.00 kb     41 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    Map see TNXB
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineadrenal gland    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • a N terminal alpha 2 macroglobulin domain
  • an anaphylotoxin-like domain
  • a netrin C terminal domain
    • conjugated GlycoP
    mono polymer trimer
    isoforms Precursor proteolytically cleaved into alpha, beta, gamma chains before secretion
    HOMOLOGY
    interspecies ortholog to rattus C4a
    Homologene
    FAMILY
    CATEGORY immunity/defense , antigen
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • classical pathway of C3 activation
  • C4a local mediator of inflammation (anaphylatoxin)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component C4 complexing with C2 in the vicinity of C1s
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • C4b binding covalently the immune complex at the cell surfaces
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C4A , RG
    Susceptibility to systemic lupus erythematosus (SLE)
    Variant & Polymorphism other both zero copies and one copy of C4A were risk factors for SLE
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS