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FLASH GENE
Symbol CFB contributors: mct - updated : 25-04-2007
HGNC name complement factor B
HGNC id 1037
Corresponding disease
HUS2 hemolytic-uremic syndrome, atypical 2
Location 6p21.3      Physical location : 3.199.308 - 31.919.860
Synonym name
  • B-factor, properdin
  • C3/C5 convertase
  • glycine-rich beta glycoprotein
  • Synonym symbol(s) BF, BFD, GBG, CFAB, PBF2, H2-Bf
    EC.number 3.4.21.47
    DNA
    TYPE functioning gene
    STRUCTURE 6.00 kb     18 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    Map see TNXB , HTFAG@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2574 85.5 764 - Cislo
    - splicing 1866 - 621 - Cislo
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly
    Reproductivefemale systemuterus  highly
     female systemovary   
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one single chain, glycine-rich domain
  • one peptidase S1 domain
  • three Sushi (CCP/SCR) domains
  • one Von Willebrand factor type A domain
  • conjugated GlycoP
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine H2-Bf
    ortholog to rattus bf
    Homologene
    FAMILY peptidase S1 family
    CATEGORY enzyme , immunity/defense , secretory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • implicated in proliferation and differentiation of preactivated B lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes
  • Ba inhibits the proliferation of preactivated B lymphocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text complement alternative pathway
    PATHWAY
    metabolism
    signaling
    a component active subunit Bb complexing with C3b to form an alternative pathway C3 convertase
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HUS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS