Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Physical map
NUDT3 6p21.2 nudix (nucleoside diphosphate linked moiety X)-type motif 3 RPS10 6p21.3 ribosomal protein S10 PACSIN1 6p21.3 protein kinase C and casein kinase substrate in neurons 1 SPDEF 6p21.3 SAM pointed domain containing ets transcription factor C6orf106 6p21.31 chromosome 6 open reading frame 106 MGC4614 6p21.31 hypothetical protein MGC4614 LOC391916 6 hypothetical gene supported by BC001032; NM_001014 SNRPC 6p21.2 small nuclear ribonucleoprotein polypeptide C C6orf107 6p21 chromosome 6 open reading frame 107 TAF11 6p21 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa ANKS1 6p21.31 ankyrin repeat and SAM domain containing 1 TCP11 6p21.2 t-complex 11 (mouse) CEGF3 6p21.3 CUB domain and EGF-like repeat containing 3 ZNF76 6p21.2 zinc finger protein 76 (expressed in testis) DEF6 6p21.33-p21.1 differentially expressed in FDCP 6 homolog (mouse) PPARD 6p21.2-p21.1 peroxisome proliferative activated receptor, delta MKRNP2 6p21.1 makorin, ring finger protein, pseudogene 2 FANCE 6p22-p21 Fanconi anemia, complementation group E RPL10A 6p21.3 ribosomal protein L10a TEAD3 6p21.2 TEA domain family member 3 TULP1 6p21.3 tubby like protein 1 LOC389382 6 similar to Rps15a protein FKBP5 6p21.3-p21.2 FK506 binding protein 5 C6orf81 6p21.31 chromosome 6 open reading frame 81 LOC389383 6 similar to AAAL3045 LOC340204 6p21.31 similar to precursor peptide CLPS 6p22-p21.1 colipase, pancreatic MGC33835 6p21.31 hypothetical protein MGC33835 SRPK1 6p213-p21.2 SFRS protein kinase 1 SLC26A8 6p21 solute carrier family 26, member 8 MAPK14 6p21.2 mitogen-activated protein kinase 14 MAPK13 6p21.1 mitogen-activated protein kinase 13 BRPF3 6p21 bromodomain and PHD finger containing, 3 PNPLA1 6p21.31 patatin-like phospholipase domain containing 1 LOC389384 6 similar to RIKEN cDNA 4930539E08 ETV7 6p21 ets variant gene 7 (TEL2 oncogene ) STEPP 6p21.31 small testis-specific peroxisomal protein C6orf69 6p21.31 chromosome 6 open reading frame 69
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