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FANCC Gene

protein-coding   GIFtS: 69
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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fanconi Anemia, Complementation Group C1 2
FACC1 2 3 5
FAC2 3
FA32
Fanconi Anemia Group C Protein2
Protein FACC3

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

Export aliases for FANCC gene to outside databases

Previous GC identifers: GC09M088680 GC09M089589 GC09M091160 GC09M093202 GC09M094940 GC09M096901 GC09M067470


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fanconi anemia, complementation group c.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for FANCC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys447
  • Modification sites at PhosphoSitePlus

  • See FANCC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000289081   ENSP00000364454   ENSP00000406908  
    Reactome Protein details: Q00597

    FANCC Human Recombinant Protein Products:

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    Novus Biologicals FANCC Proteins
    Novus Biologicals FANCC Lysates
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    Cloud-Clone Corp. Proteins for FANCC

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    LSBio Antibodies in human, mouse, rat for FANCC

    FANCC Assay Products:

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    Cloud-Clone Corp. ELISAs for FANCC
    Cloud-Clone Corp. CLIAs for FANCC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9596688
         
    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: Let us create your new Knockout/Knockin mouse model for FANCC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target FANCC:
    hsa-mir-26b-5p (MIRT029075), hsa-mir-15b-5p (MIRT046532)

    Block miRNA regulation of human, mouse, rat FANCC using miScript Target Protectors
    1 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat FANCC

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for FANCC

    Clone
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    OriGene clones in human, mouse for FANCC (see all 7)
    OriGene ORF clones in mouse, rat for FANCC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FANCC (NM_000136)
    Sino Biological Human cDNA Clone for FANCC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCC

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FANCC_HUMAN, Q00597: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    cytoskeleton3
    plasma membrane3
    peroxisome2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FANCC About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00
    2DNA Repair
    DNA Repair0.45
    3Immune response IFN gamma signaling pathway
    Immune response IFN gamma signaling pathway0.43
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for FANCC
        Fanconi Anemia pathway


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


    FANCC for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FANCC
    Interactions:

        GeneGlobe Interaction Network for FANCC

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

    Selected Interacting proteins for FANCC (Q005972, 3 ENSP000002890814) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    FANCC for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat FANCC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate FANCC:
    hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidFANCC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FANCC
    Predesigned siRNA for gene silencing in human, mouse, rat FANCC
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FANCC (NM_000136)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCC
    Primer
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    OriGene qPCR primer pairs and template standards for FANCC
    OriGene qSTAR qPCR primer pairs in human, mouse for FANCC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCC
      QuantiTect SYBR Green Assays in human, mouse, rat FANCC
      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:

    CA848758 BC041030 H94332 BX115735 BX509096 CA842814 BC006303 BF311482 
    AF039185 BF207305 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FANCC expression in normal human tissues (normalized intensities)
    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
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    FANCC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494529

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

        Custom PCR Arrays for FANCC
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FANCC gene from Selected species (see all 10)    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 78.32(n)1
    68.47(a)1
      13 (32.80 cM)5
    140881  NM_001042673.21  NP_001036138.11 
     633047095 
    chicken
    (Gallus gallus)
    Aves FANCC1 Fanconi anemia, complementation group C 61.21(n)
    49.82(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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fancc1 Fanconi anemia, complementation group C 53.01(n)
    40.22(a)
      100493280  XM_002934981.2  XP_002935027.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fancc1 Fanconi anemia, complementation group C 45.12(n)
    33.84(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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FANCC (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
    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
    rs58992511,2
    C--67601723(+) AAAAA-/ATTTTT 3 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs561872881,2
    C--67683317(+) GTGTG-/TG/TGTG
    /TGTGTGTG
    AAAAA
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613899   
    OMIM disorders: 227645  
    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

  • Selected diseases for FANCC (see all 34):    
    About MalaCards
    fancc-related fanconi anemia    fanconi anemia, complementation group c    fanconi anemia, complementation group e    multiple self healing squamous epithelioma
    fanconi anemia, complementation group f    fanconi anemia, complementation group b    fanconi's anemia    fanconi anemia, complementation group m
    xeroderma pigmentosum, group a    nevoid basal cell carcinoma syndrome    hereditary pancreatitis    pancytopenia
    bloom syndrome    basal cell carcinoma    xeroderma pigmentosum    pandas
    leukopenia    ataxia telangiectasia    familial breast cancer    sporadic breast cancer

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

    FANCC for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for FANCC gene, integrated from 10 sources (see all 203):
    (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. (Blood 1999)
    2. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. (PubMed id 8058745)1, 2, 9 Youssoufian H. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 2004)
    4. Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)1, 2 Kim H.... D'Andrea A.D. (Nat. Struct. Mol. Biol. 2012)
    5. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PubMed id 19714462)1, 4 Loizidou M.A....Kyriacou K. (Breast Cancer Res. Treat. 2010)
    9. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 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. (Gynecol. Oncol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2176 HGNC: 3584 AceView: FANCC.1 Ensembl:ENSG00000158169 euGenes: HUgn2176
    ECgene: FANCC Kegg: 2176 H-InvDB: FANCC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=FANCC[genesymbol]
    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.)
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    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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