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FLASH GENE
Symbol FANCC contributors: mct/npt - updated : 19-06-2010
HGNC name Fanconi anemia, complementation group C
HGNC id 3584
Corresponding disease
DEL9Q22 chromosome 9q22.3 microdeletion syndrome
FANCC Fanconi anemia, complementation group C
Location 9q22.32      Physical location : 97.861.337 - 98.079.991
Synonym name protein FACC
Synonym symbol(s) FACC, FAC, FA3, FLJ14675, RP11-80I15.2, bA80I15.1
DNA
TYPE functioning gene
STRUCTURE 218.65 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure two alternative 5' exons-1 and -1a
MAPPING cloned Y linked N status provisional
Physical map
C9orf10OS 9q22.32 chromosome 9 open reading frame 10 opposite strand C9orf10 9q22.31 chromosome 9 open reading frame 10 PHF2 9q22.31 PHD finger protein 2 BARX1 9q12 BarH-like homeobox 1 PTP9Q22 9q22.32 protein tyrosine phosphatase PTP9Q22 HCP24 9q22.32 cytochrome c, somatic pseudogene ZNF169 9q22.31 zinc finger protein 169 DKFZp434I1117 9q22.32 hypothetical protein DKFZp434I1117 FLJ14753 9q22.32 hypothetical protein FLJ14753 FBP2 9q22.3 fructose-1,6-bisphosphatase 2 FBP1 9q22.3 fructose-1,6-bisphosphatase 1 FLJ14675 9q22.33 hypothetical protein FLJ14675 FANCC 9q22.3 Fanconi anemia, complementation group C PSMA7P 9q22.31 proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene LOC375748 9q22.33 RAD26L hypothetical protein, alternatively spliced product; similar to (AF217319) putative repair and recombination helicase RAD26L [Mus musculus] LOC56959 9q22.33 hypothetical protein from EUROIMAGE 2005326 LOC158435 9q22.33 hypothetical protein BC008050 LOC286000 9q22.33 similar to hypothetical protein BC007171 HSD17B3 9q22.3 hydroxysteroid (17-beta) dehydrogenase 3 SLC35D2 9q22.33 solute carrier family 35, member D2 ZNF367 9q22 zinc finger protein 367 HABP4 9q22.3-q31 hyaluronan binding protein 4 CDC14B 9q22.32 CDC14 cell division cycle 14 homolog B (S. cerevisiae) C9orf21 9q22.32 chromosome 9 open reading frame 21 LOC286355 9q22.33 similar to hypothetical protein ZNF510 9q22.33 zinc finger protein 510 LOC158431 9q22.33 similar to zinc finger protein 11b (KOX 2)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 4612 63 558 - Yamashita (1994)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 liver   highly
Endocrinethyroid   highly
Lymphoid/Immunethymus   highly
Reproductivemale systemtestis  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • unknown structural motifs
    • mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • controlling the correct functioning of the replicative, repair and recombination machineries
  • involved in the fidelity of end-joining of specific double strand break in the cytoplasmic defense against a specific class of genotoxic agents and in the repair of oxidatively damaged DNA
  • protection of hematopoietic cells from cytotxicity induced by IFNG, TNF and RNA
  • required to prevent accumulation of replication-associated DNA double-strand breaks
  • suppresses cross-linker-induced genotoxicity, modulates growth-inhibitory cytokine responses, and modulates endotoxin responses (Hayes 2010)
  • does not directly regulate long telomeres, but does regulate short telomere-initiated telomere recombination (Rhee 2010)
  • may be functioning to control cell viability and immortalization of primary cells by influencing telomere attrition and telomere recombination (Rhee 2010)
    • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, replication
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    text essential for the correction of cross-linking defects
    PATHWAY
    metabolism
    signaling
    chromosome instability pathway
    a component
  • of a nuclear complex with FANCA, FANCF, FANCG (XRCC9)
  • member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCM, FANCE, FANCF, FANCG, FANCL
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with Hsp70 to prevent apoptosis of hematopoitic cells and with STAT1(activation of STAT1 in response to cytokine and growth factors)
  • FANCA, FANCE, FANCG
  • FANCE-mediated association of FANCC with FANCD2
  • regulates the monoubiquitination of FANCD2 (Rhee 2010)
  • regulates XRCC3, telomere-binding proteins or histone methyltransferases in telomere recombination (Rhee 2010)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FANCC , DEL9Q22
    related resource Fanconi Anaemia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in leukemias
    tumoral     --low  
    by hypermethylation of promoter regions in sporadic acute leukaemia
    constitutional       loss of function
    associated with failure to inhibit late firing replication origins after DNA cross-linking (Phelps 2007)
    constitutional       loss of function
    facilitates short telomere-initiated telomere recombination (Rhee 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • introducing expression cassettes for TT-adapted U1 snRNAs into primary FANCC patient fibroblasts allowed the correction of the DNA-damage-induced G2 cell-cycle arrest in these cells, thus representing an alternative transcript-targeting approach for genetic therapy of inherited splice-site mutations
    • ANIMAL & CELL MODELS