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FLASH GENE
Symbol FANCB contributors: mct/npt - updated : 24-12-2009
HGNC name Fanconi anemia, complementation group B
HGNC id 3583
Corresponding disease
FANCB Fanconi anemia, complementation group B
VACTERLH VATER association (Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial dysplasia) with hydrocephaly
Location Xp22.2      Physical location : 14.861.528 - 14.891.184
Synonym name protein FACB
Synonym symbol(s) FAB, FAAP95, FA2, FACB, FLJ34064, FAAP90
DNA
TYPE functioning gene
STRUCTURE 29.66 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 3008 - 859 - Fei, Nomura (2007)
9 - 2887 - 859 - Fei, Nomura (2007)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 mouthtongue   
 stomach    
Lymphoid/Immunelymph node    
Urinarykidney   predominantly
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C terminal putative bipartite nuclear localization signal
  • 13 C2H2-type zinc fingers
  • a KRAB domain
  • HOMOLOGY
    Homologene
    FAMILY
  • krüppel C2H2-type zinc-finger protein family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be playing a role in renal development
  • also involved in the repair of the kidney after ischemia-reperfusion or folic acid administration
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • differential functions of MUS81 and the FA pathway (FANCB) in repair of DNA damage during replication in human cells (Nomura 2007)
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • member of the group I Fanconi anemia proteins including also FANCA, FANCM, FANCC, FANCE, FANCF, FANCG, FANCL
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FANCL (required for the stability of FANCL)
  • interacting with MUS81 (MUS81 plays an important role in cell proliferation to suppress cell death when FANCB is missing, indicating a functional linkage between MUS81 and the FA pathway) (Nomura 2007)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCB , VACTERLH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS