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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FANCC Gene

protein-coding   GIFtS: 66
GCID: GC09M097861

Fanconi Anemia, Complementation Group C


(Previous symbol: FACC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fanconi Anemia, Complementation Group C1 2
FACC1 2 3
FAC2 3
FA32
Fanconi Anemia Group C Protein2
Protein FACC3

External Ids:    HGNC: 35841   Entrez Gene: 21762   Ensembl: ENSG000001581697   OMIM: 6138995   UniProtKB: Q005973   

Export aliases for FANCC gene to outside databases

Previous GC identifers: GC09M088680 GC09M089589 GC09M091160 GC09M093202 GC09M094940 GC09M096901 GC09M067470


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FANCC Gene:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called
BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called
PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous
recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents,
increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group
do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This
gene encodes the protein for complementation group C. (provided by RefSeq, Jul 2008)

GeneCards Summary for FANCC Gene: 
FANCC (Fanconi anemia, complementation group C) is a protein-coding gene. Diseases associated with FANCC include fancc-related fanconi anemia, and multiple self healing squamous epithelioma, and among its related super-pathways are Fanconi's Anaemia Pathway and Nucleotide Excision Repair. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597
Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May
be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon
IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1

Gene Wiki entry for FANCC (Fanconi anemia, complementation group C) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FANCC gene promoter:
         STAT1   p53   MEF-2   Nkx2-5   MEF-2A   FOXO1a   Cart-1   aMEF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FANCC promoter sequence
   Search SABiosciences Chromatin IP Primers for FANCC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.3   Ensembl cytogenetic band:  9q22.32   HGNC cytogenetic band: 9q22.3

FANCC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCC gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M097861:  view genomic region     (about GC identifiers)

Start:
97,861,336 bp from pter      End:
98,079,991 bp from pter
Size:
218,656 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597 (See protein sequence)
Recommended Name: Fanconi anemia group C protein  
Size: 558 amino acids; 63429 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9
and FANCM. This complex may also include HSP70. The complex is not found in FA patients. Interacts with ZBTB32.
Upon IFNG induction, interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2; interaction between FA
variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death
Subcellular location: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic
Developmental stage: Expression increases during S phase, is maximal at the G2/M transition, and declines during M
phase (at protein level)
Secondary accessions: B1ALR8

Explore the universe of human proteins at neXtProt for FANCC: NX_Q00597

Explore proteomics data for FANCC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q00597

  • FANCC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FANCC Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000127.2  NP_001230672.1  NP_001230673.1  

    ENSEMBL proteins: 
     ENSP00000289081   ENSP00000364454   ENSP00000406908  
    Reactome Protein details: Q00597
    Human Recombinant Protein Products for FANCC: 
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    Novus Biologicals FANCC Proteins
    Novus Biologicals FANCC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FANCC 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9398857
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm TAS9398857
    GO:0005829cytosol IDA9596688
    GO:0043240Fanconi anaemia nuclear complex IDA--

    FANCC for ontologies           About GeneDecksing



    FANCC Antibody Products: 
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    Novus Biologicals FANCC Antibodies
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    Cloud-Clone Corp. Antibodies for FANCC 
    ThermoFisher Antibody for FANCC
    LSBio Antibodies in human, mouse, rat for FANCC 

    Assay Products for FANCC: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FANC: Fanconi anemia, complementation groups

    1 InterPro protein domain:
     IPR000686 Fanconi

    Graphical View of Domain Structure for InterPro Entry Q00597

    ProtoNet protein and cluster: Q00597

    1 Blocks protein domain: IPB000686 Fanconi anaemia group C protein signature


    FANCC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FANCC_HUMAN, Q00597
    Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May
    be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon
    IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1

         Genatlas biochemistry entry for FANCC:
    gene 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11157805
         
    FANCC for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for FANCC:
     Cell division defect  Increased S DNA content  Increased gamma-H2AX phosphory  Increased number of mitotic ce 
     Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fancc):
     cellular  endocrine/exocrine gland  hematopoietic system  immune system  liver/biliary system 
     reproductive system  skeleton 

    FANCC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FANCC: Fancctm1Mab Fancctm1Mgo

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FANCC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FANCC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANCC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FANCC 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FANCC
    1 QIAGEN miScript miRNA Assays for microRNA that regulate FANCC:
    hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidFANCC 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of FANCC 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FANCC About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    BARD1 signaling events0.41
    Fanconi Anemia pathway0.43
    2Nucleotide Excision Repair
    DNA Repair0.46
    3Immune response IFN gamma signaling pathway
    Immune response IFN gamma signaling pathway0.43
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5BRCA1 Pathway
    BRCA1 Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FANCC
        Immune response IFN gamma signaling pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FANCC
        Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms

    1 GeneGo (Thomson Reuters) Pathway for FANCC
        Immune response IFN gamma signaling pathway

    1 BioSystems Pathway for FANCC
        BARD1 signaling events


    2        Reactome Pathways for FANCC
        DNA Repair
    Fanconi Anemia pathway


    1         Kegg Pathway  (Kegg details for FANCC):
        Fanconi anemia pathway


    FANCC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FANCC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/73 Interacting proteins for FANCC (Q005971, 2, 3 ENSP000002890814) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=2 
    ENSG00000215328P081073I2D: score=2 
    ENSG00000224501P081073I2D: score=2 
    ENSG00000231555P081073I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002262myeloid cell homeostasis IEA--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair IEA--
    GO:0006461protein complex assembly TAS9398857
    GO:0007276gamete generation ----

    FANCC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FANCC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FANCC

    5 Novoseek inferred chemical compound relationships for FANCC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitomycin c 80.8 21 11525634 (2), 10717387 (2), 11162306 (1), 12637330 (1) (see all 13)
    diepoxybutane 77.9 3 8978774 (1), 10783335 (1)
    melphalan 20.6 1 10470107 (1)
    adenine 10.3 1 11427142 (1)
    oxygen 0 1 10783335 (1)

    Search CenterWatch for drugs/clinical trials and news about FANCC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FANCC gene (3 alternative transcripts): 
    NM_000136.2  NM_001243743.1  NM_001243744.1  

    Unigene Cluster for FANCC:

    Fanconi anemia, complementation group C
    Hs.494529  [show with all ESTs]
    Unigene Representative Sequence: NM_000136
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000289081(uc004avh.3 uc004avi.4 uc011lul.1) ENST00000375305(uc010mrm.1 uc022bkl.1)
    ENST00000464627 ENST00000480712 ENST00000477942 ENST00000490972 ENST00000464653
    ENST00000493098 ENST00000474949 ENST00000433829
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FANCC:
    hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidFANCC 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: FANCC (NM_000136)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCC
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FANCC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCC

    Additional mRNA sequence: 

    AK222871.1 AK304887.1 AK310599.1 AK312548.1 BC015748.1 X66893.1 X66894.1 

    13 DOTS entries:

    DT.313375  DT.95162350  DT.100706227  DT.100813029  DT.97769226  DT.40126275  DT.100813030  DT.121205235 
    DT.121205493  DT.121205515  DT.75169691  DT.91703847  DT.97798713 

    12 AceView cDNA sequences:

    BC041030 H94332 BX115735 CA842814 BX509096 BC006303 CA848758 BF311482 
    BF207305 AF039185 AI591051 H94420 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FANCC expression in normal human tissues (normalized intensities)      FANCC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGTAAAAC
    FANCC Expression
    About this image


    FANCC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles

    See FANCC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FANCC

    SOURCE GeneReport for Unigene cluster: Hs.494529

    UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597
    Tissue specificity: Ubiquitous

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FANCC gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fancc1 , 5 Fanconi anemia, complementation group C1, 5 78.14(n)1
    68.47(a)1
      13 (32.80 cM)5
    140881  NM_007985.21  NP_032011.21 
     633047095 
    chicken
    (Gallus gallus)
    Aves FANCC1 Fanconi anemia, complementation group C 61.27(n)
    49.64(a)
      427468  NM_001006587.2  NP_001006587.2 
    lizard
    (Anolis carolinensis)
    Reptilia FANCC6
    Fanconi anemia, complementation group C
    48(a)
    1 ↔ 1
    2(40497214-40582680)
    zebrafish
    (Danio rerio)
    Actinopterygii fancc1 Fanconi anemia, complementation group C 44.04(n)
    32.33(a)
      692127  NM_001040637.1  NP_001035727.1 


    ENSEMBL Gene Tree for FANCC (if available)
    TreeFam Gene Tree for FANCC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3838 SNPs in FANCC are shown (see all 3838)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048864581,2
    Cpathogenic197880287(-) AGAGCC/TGCGAA 4 P L mis10--------
    rs1048864571,2
    Cpathogenic197880306(-) TGGCCC/TGAGAG 4 R * stg10--------
    rs1219177831,2
    Cpathogenic197928619(-) TGTCAC/TGAGTT 6 R * stg11Minor allele frequency- T:0.00NA 4552
    VAR_0052334
    ----see VAR_0052332 L P mis40--------
    VAR_0052324
    ----see VAR_0052322 L R mis40--------
    rs454646971,2
    C--67489410(-) CATAAATTT    
       ATT
    /-
    ATTTT
    3 -- int11Minor allele frequency- -:0.00NA 2
    rs1999685181,2
    --67533640(+) TCTGC-/TTCTT 
            
    TTCTT
    3 -- int10--------
    rs26554861,2
    C,F,H--67559007(+) CGAGCG/ATTACG 3 -- int15Minor allele frequency- A:0.01NS EA 566
    rs3813631,2
    --67559235(-) CTAGAA/GATGAT 3 -- int10--------
    rs558398361,2
    C--67601432(+) ACACA-/CA    
       
    /CACA
    TTGTA
    3 -- int11NA 2

    HapMap Linkage Disequilibrium report for FANCC (97861336 - 98079991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FANCC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831656CNV Loss17160897
    nsv831657CNV Loss17160897


    Human Gene Mutation Database (HGMD): FANCC

    Locus Specific Mutation Databases (LSDB): FANCC
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613899    OMIM disorders: --

    UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597
  • Fanconi anemia complementation group C (FANCC) [MIM:227645]: A disorder affecting all bone marrow
    elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb
    malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the
    cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/32 diseases for FANCC (see all 32):    About MalaCards
    fancc-related fanconi anemia    multiple self healing squamous epithelioma    fanconi anemia, complementation group b    anemia
    fanconi's anemia    xeroderma pigmentosum, group a    nevoid basal cell carcinoma syndrome    pancreatic cancer
    pancytopenia    hereditary pancreatitis    bloom syndrome    basal cell carcinoma
    xeroderma pigmentosum    leukopenia    pandas    ataxia telangiectasia
    breast cancer susceptibility    familial breast cancer    sporadic breast cancer    skin cancer

    2 diseases from the University of Copenhagen DISEASES database for FANCC:
    Bone marrow disease     Anemia

    FANCC for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for FANCC gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 97.5 51 8621788 (3), 12239156 (3), 8058745 (3), 11433346 (2) (see all 31)
    congenital malformation 51 1 8789444 (1)
    cancer 45 5 15277238 (1), 8621788 (1), 12351379 (1), 17909071 (1) (see all 5)
    anemia 41.6 9 7853372 (2), 12670332 (2), 7829076 (1), 16170343 (1) (see all 7)
    hnscc 40.2 2 17409780 (1), 16466850 (1)
    aplasia 36.8 3 10515453 (1), 12351814 (1)
    pancreatic cancer 28.8 11 14726700 (5), 15277238 (1), 15107617 (1), 12750283 (1) (see all 5)
    ataxia telangiectasia 26 1 17277230 (1)
    chromosomal aberrations 23 1 8978774 (1)
    breast cancer 22.3 4 17909071 (1), 14695169 (1), 18990233 (1)

    Genatlas disease: FANCC
    Fanconi anemia,autosomal recessive,complementation group C,characterized by progressive bone marrow failure
    (pancytopenia),often associated with skeletal abnormalities,radial hypoplasia and vertebral defect and an
    increased cancer risk with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents

    GeneTests: FANCC
    GeneReviews: FANCC
    Genetic Association Database (GAD): FANCC
    Human Genome Epidemiology (HuGE) Navigator: FANCC (15 documents)

    Export disorders for FANCC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FANCC gene, integrated from 9 sources (see all 202):
    (articles sorted by number of sources associating them with FANCC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. (PubMed id 10572087)1, 2, 9 Hoatlin M.E.... Licht J.D. (1999)
    2. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. (PubMed id 8058745)1, 2, 9 Youssoufian H. (1994)
    3. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PubMed id 15299030)1, 2, 9 Zhang X....Pang Q. (2004)
    4. Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)1, 2 Kim H....D'Andrea A.D. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (2010)
    8. Genetic variation in genes interacting with BRCA1/2 a nd risk of breast cancer in the Cypriot population. (PubMed id 19714462)1, 4 Loizidou M.A....Kyriacou K. (2010)
    9. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (2009)
    10. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2176 HGNC: 3584 AceView: FANCC.1 Ensembl:ENSG00000158169 euGenes: HUgn2176
    ECgene: FANCC Kegg: 2176 H-InvDB: FANCC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FANCC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCC Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpc.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCC
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fancc/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FANCC gene:
    Search GeneIP for patents involving FANCC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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