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FLASH GENE
Symbol C4B contributors: - updated : 15-01-2007
HGNC name complement component 4B (Childo blood group)
HGNC id 1324
Corresponding disease
C4B complement component 4B deficiency
Location 6p21.3      Physical location : 3.235.414 - 32.003.194
Synonym name
  • CHIDO blood group
  • complement component 4B
  • Synonym symbol(s) XXbac-BPG116M5.7, C4A, C4A13, C4A91, C4B1, C4B12, C4B2, C4B3, C4B5, C4F, CH, CO4, CPAMD3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text including the ZB transcript in the same orientation
    STRUCTURE 20.00 kb     41 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see TNXB
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - - - -
    including HERV-K retrovirus in intron 9
    - - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     salivary gland   predominantly
    Nervousnerve    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    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
  • C4 anaphylotoxin, local mediator of inflammation
  • classical pathway of C3 activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • binding the immune complex at the cell surface
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C4B
    Susceptibility to systemic lupus erythematosus (SLE)
    Variant & Polymorphism SNP increasing the risk of systemic lupus erythematosus (SLE)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS