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FLASH GENE
Symbol FANCE contributors: npt/ - updated : 05-06-2006
HGNC name Fanconi anemia, complementation group E
HGNC id 3586
Corresponding disease
FANCE Fanconi anemia, complementation group E
Location 6p21.31      Physical location : 35.420.137 - 35.434.881
Synonym name protein FACE
Synonym symbol(s) FACE, FAE
DNA
TYPE functioning gene
STRUCTURE 14.74 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2565 - 536 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Reproductivefemale systemuteruscervix highly
 female systemplacenta  highly
 male systemprostate   
Visualeye    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two potential nuclear localization signals (NLS)
  • mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • protection of the genomic integrity of cells
  • key mediator of protein interactions both in the architecture of the Fanconi anemia protein complex and in the connection of complex components to the putative downstream targets of complex activity
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCM, FANCF, FANCG, FANCL
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FANCA, FANCC, FANCG, and required for the mono-ubiquitination of FANCD2 and the downstream events in the FA pathway
  • FANCE-mediated association of FANCC with FANCD2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCE
    related resource Fanconi Anaemia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in leukemias
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS