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

FANCA Gene

protein-coding   GIFtS: 70
GCID: GC16M089803

Fanconi Anemia, Complementation Group A


(Previous symbols: FACA, FANCH)
  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 A1 2     FA-H2
FACA1 2 3 5     FAH2
FANCH1 2 3     Fanconi Anemia Group A Protein2
FAA2 3 5     Fanconi Anemia, Complementation Group H2
FA2 5     Fanconi Anemia, Type 12
FA12 5     Protein FACA3

External Ids:    HGNC: 35821   Entrez Gene: 21752   Ensembl: ENSG000001877417   OMIM: 6071395   UniProtKB: O153603   

Export aliases for FANCA gene to outside databases

Previous GC identifers: GC16M081125 GC16M090792 GC16M089506 GC16M089547 GC16M088332 GC16M075499


(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 FANCA 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 A. Alternative splicing results in multiple transcript
variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.
(provided by RefSeq, Jul 2008)

GeneCards Summary for FANCA Gene: 
FANCA (Fanconi anemia, complementation group A) is a protein-coding gene. Diseases associated with FANCA include fanconi anemia, complementation group a, and fanca-related fanconi anemia, 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: FANCA_HUMAN, O15360
Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May
be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

Gene Wiki entry for FANCA 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_000016.9  NT_010542.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FANCA gene promoter:
         Elk-1   GATA-3   Olf-1   LCR-F1   AP-2gamma   POU2F1   COMP1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCA promoter sequence
   Search SABiosciences Chromatin IP Primers for FANCA

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


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M089803:  view genomic region     (about GC identifiers)

Start:
89,803,957 bp from pter      End:
89,883,065 bp from pter
Size:
79,109 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: FANCA_HUMAN, O15360 (See protein sequence)
Recommended Name: Fanconi anemia group A protein  
Size: 1455 amino acids; 162775 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9
and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC,
nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of
FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with
FAAP20/C1orf86; interaction is direct
Subcellular location: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic
Secondary accessions: A5D923 O75266 Q6PL10 Q92497 Q96H18 Q9UEA5 Q9UEL8 Q9UEL9 Q9UPK3 Q9Y6M2
Alternative splicing: 2 isoforms:  O15360-1   O15360-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FANCA: NX_O15360

Explore proteomics data for FANCA at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from
    groups A, B, C, E, F, G, and H
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15360

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

    FANCA Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000126.2  NP_001018122.1  

    ENSEMBL proteins: 
     ENSP00000373952   ENSP00000456829   ENSP00000456608   ENSP00000457006   ENSP00000454977  
     ENSP00000456481   ENSP00000455974   ENSP00000454217   ENSP00000456588   ENSP00000456993  
     ENSP00000457970   ENSP00000457027   ENSP00000455969   ENSP00000456762   ENSP00000457647  
     ENSP00000373953   ENSP00000456443   ENSP00000443409   ENSP00000456722   ENSP00000455946  
     ENSP00000455941   ENSP00000443675  
    Reactome Protein details: O15360
    Human Recombinant Protein Products for FANCA: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for FANCA
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    Novus Biologicals FANCA Protein
    Novus Biologicals FANCA Lysates
    Sino Biological Recombinant Protein for FANCA
    Sino Biological Cell Lysate for FANCA 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FANCA 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11726552
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0043240Fanconi anaemia nuclear complex IDA--

    FANCA for ontologies           About GeneDecksing



    FANCA Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of FANCA
    R&D Systems Antibodies for FANCA (FACA/FANCA)
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    GenScript Custom Superior Antibodies Services for FANCA
    Novus Biologicals FANCA Antibodies
    Abcam antibodies for FANCA
    Cloud-Clone Corp. Antibodies for FANCA 
    ThermoFisher Antibody for FANCA
    LSBio Antibodies in human, mouse, rat for FANCA 

    Assay Products for FANCA: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FANCA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FANCA 
    Cloud-Clone Corp. CLIAs for FANCA


    (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:
     IPR003516 Fanconia

    Graphical View of Domain Structure for InterPro Entry O15360

    ProtoNet protein and cluster: O15360

    1 Blocks protein domain: IPB003516 Fanconi anaemia group A protein signature


    FANCA 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: FANCA_HUMAN, O15360
    Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May
    be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

         Genatlas biochemistry entry for FANCA:
    putative nuclear protein with a nuclear localization signal and partial b leucine-zipper,involved in genomic
    stability and control of apoptosis,complexing with XRCC9

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10627486
         
    FANCA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FANCA:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fanca):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  mortality/aging  reproductive system  skeleton 
     tumorigenesis  vision/eye 

    FANCA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fancatm1Zqw for FANCA

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

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

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCA:
    hsa-miR-145* hsa-miR-595 hsa-miR-138 hsa-miR-944 hsa-miR-335
    SwitchGear 3'UTR luciferase reporter plasmidFANCA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FANCA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of FANCA

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): FANCA (NM_000135)
    Sino Biological Human cDNA Clone for FANCA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCA
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                         Customized lentivirus expression plasmids for stable overexpression of FANCA 

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


    (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 FANCA About                                                                                                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
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4BRCA1 Pathway
    BRCA1 Pathway
    5Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for FANCA
        BARD1 signaling events


    2        Reactome Pathways for FANCA
        DNA Repair
    Fanconi Anemia pathway


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


    FANCA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FANCA

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

    5/105 Interacting proteins for FANCA (O153601, 2, 3 ENSP000003739524) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152871, 2, 3, ENSP000003679104EBI-81570,EBI-81610 MINT-4789325 MINT-19441 MINT-19440 MINT-4789189 MINT-68475 MINT-19452 MINT-4789226 MINT-19444 MINT-19447 I2D: score=8 STRING: ENSP00000367910
    BRCA1P383982, 3, ENSP000003502834MINT-19477 MINT-51040 MINT-19476 MINT-8141024 I2D: score=4 STRING: ENSP00000350283
    SMARCA4P515322, 3, ENSP000003507204MINT-19465 MINT-19464 MINT-19466 I2D: score=3 STRING: ENSP00000350720
    FANCBQ8NB912, 3, ENSP000003268194MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000326819
    ENSG00000225073Q138383, ENSP000004003264I2D: score=1 STRING: ENSP00000400326
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006461protein complex assembly TAS9398857
    GO:0007140male meiosis IEA--
    GO:0008584male gonad development IEA--
    GO:0008585female gonad development IEA--

    FANCA 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

    FANCA for compounds           About GeneDecksing

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

    Browse Tocris compounds for FANCA

    7 Novoseek inferred chemical compound relationships for FANCA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diepoxybutane 84.2 2 12637330 (1)
    mitomycin c 79.8 18 12637330 (2), 12444097 (2), 9345011 (2), 10936049 (1) (see all 11)
    psoralen 31.4 2 11401546 (2)
    leucine 28.6 4 11050007 (1), 8896563 (1), 9345010 (1), 11093276 (1)
    alanine 2.83 2 11161829 (1)
    cisplatin 0 1 15790592 (1)
    h2o2 0 3 11161829 (1), 15138265 (1)

    Search CenterWatch for drugs/clinical trials and news about FANCA

    (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 FANCA gene (2 alternative transcripts): 
    NM_000135.2  NM_001018112.1  

    Unigene Cluster for FANCA:

    Fanconi anemia, complementation group A
    Hs.744083  [show with all ESTs]
    Unigene Representative Sequence: X99226
    18/32 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000389301(uc002fou.1 uc010vpn.1) ENST00000568369 ENST00000561722
    ENST00000562424 ENST00000567879 ENST00000564475 ENST00000564870 ENST00000568626
    ENST00000564969 ENST00000305699(uc010vpo.2) ENST00000567988 ENST00000568983
    ENST00000561660 ENST00000563510 ENST00000563318 ENST00000567205 ENST00000561667
    ENST00000567284
    miRNA
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    hsa-miR-145* hsa-miR-595 hsa-miR-138 hsa-miR-944 hsa-miR-335
    SwitchGear 3'UTR luciferase reporter plasmidFANCA 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCA

    Additional mRNA sequence: 

    AK299282.1 AK301168.1 AY339878.1 AY339879.1 AY339880.1 BC008979.1 BC064540.1 BC120978.1 
    BC120979.1 BC127633.1 BC141971.1 BC141972.1 BT007366.1 X99226.1 

    24 DOTS entries:

    DT.446662  DT.100795687  DT.100712272  DT.100029399  DT.100752051  DT.100795690  DT.100795692  DT.120714485 
    DT.429021  DT.120714397  DT.100795689  DT.120714563  DT.120714578  DT.100029396  DT.100642520  DT.100795691 
    DT.40132331  DT.86854426  DT.91649355  DT.92436710  DT.120714390  DT.120714398  DT.447264  DT.95071370 

    24/98 AceView cDNA sequences (see all 98):

    BG036552 BM854554 AI197817 BQ574517 NM_000135 BG255791 BQ427522 CA454074 
    BQ949613 BU845493 AW170465 CD656606 X99226 AI093382 AW502047 CA309327 
    BI908441 CR601931 T35075 C00203 CB150064 BE790858 BU171044 AI968318 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for FANCA (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d ·
    SP1:              -                             -                                                                                                               
    SP2:                                            -                                                                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17e ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:                                      -                                                         
    SP4:  -                                   -                                                         
    SP5:                                      -           -                                             


    ECgene alternative splicing isoforms for FANCA

    (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

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


    FANCA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Kidney (Urinary System)
             renal vesicle e12.5   
     
     Bone (Muscoskeletal System)
             FancA-sW-transduced peripheral blood- or bone marrow- derived stem cells
     
     Uterus (Reproductive System)
             CERVIX   
     
     Blood (Hematopoietic System)
             FancA-sW-transduced peripheral blood- or bone marrow- derived stem cells

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

    SOURCE GeneReport for Unigene cluster: Hs.744083
        SABiosciences Expression via Pathway-Focused PCR Array including FANCA: 
              DNA Damage Signaling Pathway in human mouse rat

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    (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 FANCA gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fanca1 , 5 Fanconi anemia, complementation group A1, 5 74.26(n)1
    67.27(a)1
      8 (72.10 cM)5
    140871  NM_016925.31  NP_058621.21 
     1232683005 
    chicken
    (Gallus gallus)
    Aves FANCA1 Fanconi anemia, complementation group A 58.75(n)
    50.29(a)
      415854  NM_001134359.1  NP_001127831.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    FANCA6
    Uncharacterized protein
    65(a)
    42(a)
    many → 1
    many → 1
    AAWZ02037213(2769-15201)
    GL344093.1(56978-80882)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.29462 Transcribed sequence with weak similarity to protein more 81.58(n)    137697406 
    zebrafish
    (Danio rerio)
    Actinopterygii fanca1 Fanconi anemia, complementation group A 49.87(n)
    37.33(a)
      692125  NM_001040635.1  NP_001035725.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FANCA gene
    18/65 SIMAP similar genes for FANCA using alignment to 29 protein entries:     FANCA_HUMAN (see all proteins) (see all similar genes):
    ZNF23    COX7A2    NSRP1    POU4F3    ZNF568    C19orf25
    TGFBR3    WDR6    ZNF415    CCPG1    DYNLT3    IFT122
    NLN    SCIMP    SCLT1    GRIK2    KLHDC1    UTY

    FANCA for paralogs           About GeneDecksing



    (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

    10/3236 SNPs in FANCA are shown (see all 3236)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0175024
    Fanconi anemia (FA)4--see VAR_0175022 F L mis40--------
    VAR_0096494
    Fanconi anemia (FA)4--see VAR_0096492 R L mis40--------
    VAR_0096564
    Fanconi anemia (FA)4--see VAR_0096562 W R mis40--------
    VAR_0174994
    Fanconi anemia (FA)4--see VAR_0174992 R W mis40--------
    VAR_0380124
    Fanconi anemia (FA)4--see VAR_0380122 L R mis40--------
    VAR_0096524
    Fanconi anemia (FA)4--see VAR_0096522 Q E mis40--------
    VAR_0096514
    Fanconi anemia (FA)4--see VAR_0096512 R G mis40--------
    VAR_0096534
    Fanconi anemia (FA)4--see VAR_0096532 T A mis40--------
    VAR_0380194
    Fanconi anemia (FA)4--see VAR_0380192 L P mis40--------
    VAR_0096484
    Fanconi anemia (FA)4--see VAR_0096482 L P mis40--------

    HapMap Linkage Disequilibrium report for FANCA (89803957 - 89883065 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for FANCA (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1710087CNV Deletion17803354
    esv4738CNV Deletion18987735
    esv2715202CNV Deletion23290073
    esv1172602CNV Deletion17803354
    nsv1931CNV Insertion18451855
    nsv509639CNV Insertion20534489
    nsv907425CNV Loss21882294
    dgv3009n71CNV Loss21882294
    nsv907433CNV Loss21882294
    dgv3008n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): FANCA

    Locus Specific Mutation Databases (LSDB): FANCA
    SABiosciences Cancer Mutation PCR Assays
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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: 607139   
    OMIM disorders: 227650  
    UniProtKB/Swiss-Prot: FANCA_HUMAN, O15360
  • Fanconi anemia (FA) [MIM:227650]: A genetically heterogeneous 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

  • 20/33 diseases for FANCA (see all 33):    About MalaCards
    fanconi anemia, complementation group a    fanca-related fanconi anemia    anemia    fanconi's anemia
    esophageal atresia/tracheoesophageal fistula    tracheoesophageal fistula    esophageal atresia    fanconi anemia, complementation group b
    seckel syndrome    hereditary pancreatitis    pancytopenia    bloom syndrome
    autosomal recessive disease    familial breast cancer    breast cancer susceptibility    sporadic breast cancer
    vitiligo    breast cancer    esophagitis    ovarian cancer

    4 diseases from the University of Copenhagen DISEASES database for FANCA:
    Bone marrow disease     Anemia     Autosomal recessive disease     Genetic disorder

    FANCA for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for FANCA gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 97.7 56 9721219 (2), 16532972 (2), 15643609 (2), 11855836 (2) (see all 43)
    congenital malformation 68.8 2 10364463 (1), 15860134 (1)
    cancer 48.7 8 19012493 (2), 10364463 (1), 12351379 (1), 19861535 (1) (see all 5)
    hnscc 45.6 1 16466850 (1)
    anemia 44.8 6 11091222 (2), 15860134 (1), 15162062 (1), 12001267 (1) (see all 5)
    t-all 29.3 2 10994546 (1)
    breast cancer 24.1 4 12915460 (1), 19536649 (1), 14695169 (1)
    carcinoma squamous cell 18 1 16982972 (1)
    somatic mutations 11.5 2 9371798 (1)
    necrosis 0 1 15299030 (1)

    Genatlas disease: FANCA
    Fanconi anemia,autosomal recessive,complementation group A,representing more than 50% of cases,with high
    frequency of somatic mosaicism,characterized by progressive bone marrow failure (pancytopenia),often associated
    with skeletal abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by
    exposure to DNA cross-linking agents

    GeneTests: FANCA
    GeneReviews: FANCA
    Genetic Association Database (GAD): FANCA
    Human Genome Epidemiology (HuGE) Navigator: FANCA (23 documents)

    Export disorders for FANCA 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 FANCA gene, integrated from 9 sources (see all 227):
    (articles sorted by number of sources associating them with FANCA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. (PubMed id 10210316)1, 2, 9 Kupfer G.... D'Andrea A.D. (1999)
    2. Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. (PubMed id 9721219)1, 2, 9 Centra M.... Savoia A. (1998)
    3. High frequency of large intragenic deletions in the Fanconi anemia group A gene. (PubMed id 10521298)1, 2, 9 Morgan N.V.... Mathew C.G. (1999)
    4. Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. (PubMed id 11091222)1, 2, 9 Tamary H....Zaizov R. (2000)
    5. Sequence variation in the Fanconi anemia gene FAA. (PubMed id 9371798)1, 2, 9 Levran O.... Auerbach A.D. (1997)
    6. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. (PubMed id 8896563)1, 2, 9 Lo Ten Foe J.R.... Joenje H. (1996)
    7. A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. (PubMed id 15860134)1, 4, 9 Thompson E....Dobrovic A. (2005)
    8. Common Variants in Immune and DNA Repair Genes and Risk for Human Papillomavirus Persistence and Progression to Cervical Cancer. (PubMed id 19012493)1, 4, 9 Wang S.S....Hildesheim A. (2009)
    9. 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)
    10. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. (PubMed id 10807541)1, 2, 9 Yamada T....Sasaki M.S. (2000)

    (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: 2175 HGNC: 3582 AceView: FANCA Ensembl:ENSG00000187741 euGenes: HUgn2175
    ECgene: FANCA Kegg: 2175 H-InvDB: FANCA

    (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 FANCA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCA Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpa.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCA
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fanca/

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

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



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