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FLASH GENE
Symbol C8B contributors: mct - updated : 11-01-2012
HGNC name complement component 8, beta polypeptide
HGNC id 1353
Corresponding disease
C8B complement component 8B deficiency
Location 1p32.2      Physical location : 57.394.884 - 57.431.688
Synonym name complement component C8 beta chain
DNA
TYPE functioning gene
STRUCTURE 36.81 kb     12 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
text structure a perforin domain and a LDL receptor domain,class A and two thrombospondin, type I domains
MAPPING cloned Y linked Y status provisional
regionally located <2.5kb, 3' from C8A
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2053 - 591 - 1996 8792819
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Nervousnervecranial nerve   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal TSP1 modules of C8A and C8B form three-stranded antiparallel domains that are similar to one another and to homologous modules found in other proteins
  • a perforin domain
  • a LDL receptor class A and two thrombospondin type I
  • a EGF-like domain
  • 1 MACPF domain, that likewise can bind C8A-C8G and express C8 activity
  • conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine C8b
    intraspecies paralog to C8A
    Homologene
    FAMILY MAC family of proteins (membrane attack complex of complement)
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • faciliting interaction of C8a with target membranes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • the principal binding site for C9 lies within the MACPF domain of C8alpha
  • C8 contains three genetically distinct subunits (C8 alpha, C8 beta, C8 gamma) arranged as a disulfide-linked C8 alpha-gamma dimer that is noncovalently associated with C8 beta
  • this site and the binding sites for C8beta and C8gamma are distinct
  • C8 is composed of three genetically distinct subunits, C8A, C8B, and C8G
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other cell surface
    REGULATION
    inhibited by CD59
    ASSOCIATED DISORDERS
    corresponding disease(s) C8B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS