Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FANCA Gene

protein-coding   GIFtS: 68
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

TryGeneCards Plus

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

TryGeneCards Plus

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 fanca-related fanconi anemia, and fanconi anemia, complementation group a.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
Regulatory elements:
   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 Chromatin IP Primers for FANCA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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.)
About This Section

TryGeneCards Plus

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
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: 

  • Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from
    groups A, B, C, E, F, G, and H1
  • Ubiquitination2 at Lys76, Lys293, Lys515, Lys612, Lys1199, Lys1387, Lys1398, Lys1413
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000126.2  NP_001018122.1  NP_001273096.1  

    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

    FANCA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for FANCA
    OriGene Custom MassSpec
    OriGene Custom Protein Services for FANCA
    GenScript Custom Purified and Recombinant Proteins Services for FANCA
    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

    FANCA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FANCA
    R&D Systems Antibodies for FANCA (FACA/FANCA)
    OriGene Antibodies for FANCA
    OriGene Custom Antibody 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

    FANCA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FANCA
    Browse R&D Systems for biochemical assays
    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

    TryGeneCards Plus
    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,
    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.)
    About This Section

    TryGeneCards Plus

    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for FANCA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target FANCA:
    hsa-mir-17-5p (MIRT050966), hsa-mir-193b-3p (MIRT016287)

    Block miRNA regulation of human, mouse, rat FANCA using miScript Target Protectors
    5 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for FANCA
    Predesigned siRNA for gene silencing in human, mouse, rat FANCA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FANCA

    Clone
    Products:
         
    OriGene clones in human, mouse for FANCA (see all 12)
    OriGene ORF clones in mouse, rat for FANCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FANCA
    Browse ESI BIO Cell Lines and PureStem Progenitors for FANCA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    FANCA_HUMAN, O15360: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11726552
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0043240Fanconi anaemia nuclear complex IDA--

    FANCA 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).
    About This Section

    TryGeneCards Plus

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

    SuperPathContained pathways About
    1BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00
    2DNA Repair
    DNA Repair0.45
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway
    5Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for FANCA
        BARD1 signaling events


    1 Reactome Pathway for FANCA
        Fanconi Anemia pathway


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


    FANCA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FANCA: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FANCA

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

    Selected Interacting proteins for FANCA (O153601, 2, 3 ENSP000003739524) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152871, 2, 3, ENSP000003679104EBI-81570,EBI-81610 MINT-4789325 MINT-19441 MINT-19440 MINT-68475 MINT-4789189 MINT-19452 MINT-4789226 MINT-19444 MINT-19447 I2D: score=8 STRING: ENSP00000367910
    FAAP100Q0VG061, 2, 3EBI-81570,EBI-2557990 MINT-4789089 MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=2 
    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
    About this table

    Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    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)



    FANCA 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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for FANCA gene (3 alternative transcripts): 
    NM_000135.2  NM_001018112.1  NM_001286167.1  

    Selected 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
    Products:
         
    Block miRNA regulation of human, mouse, rat FANCA using miScript Target Protectors
    5 qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for FANCA
    Predesigned siRNA for gene silencing in human, mouse, rat FANCA
    Clone
    Products:
         
    OriGene clones in human, mouse for FANCA (see all 12)
    OriGene ORF clones in mouse, rat for FANCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FANCA (NM_000135)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FANCA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCA
      QuantiTect SYBR Green Assays in human, mouse, rat FANCA
      QuantiFast Probe-based Assays in human, mouse, rat FANCA

    Selected AceView cDNA sequences (see all 98):

    CB150064 BQ427522 CA309327 BG036552 BU171044 C00203 BU845493 BE790858 
    CR601931 X99226 CD656606 AW502047 BM546950 BG255791 BE891556 BQ051638 
    CA454074 CB129458 BQ949613 AW170465 T35075 AI968318 BM854554 AI197817 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

    TryGeneCards Plus

    FANCA expression in normal human tissues (normalized intensities)
    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
     
     Blood (Hematopoietic System)
             FancA-sW-transduced peripheral blood- or bone marrow- derived stem cells
    FANCA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCA Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including FANCA: 
              DNA Damage Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FANCA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCA
    QuantiTect SYBR Green Assays in human, mouse, rat FANCA
    QuantiFast Probe-based Assays in human, mouse, rat FANCA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCA

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for FANCA gene from Selected 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 74.16(n)1
    67.13(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 58.76(n)
    50.32(a)
      415854  NM_001134359.1  NP_001127831.1 
    lizard
    (Anolis carolinensis)
    Reptilia FANCA6
    Fanconi anemia, complementation group A
    43(a)
    1 ↔ 1
    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 50.24(n)
    37.93(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

    TryGeneCards Plus
    Paralogs for FANCA gene
    Selected SIMAP similar genes for FANCA using alignment to 28 protein entries:     FANCA_HUMAN (see all proteins) (see all similar genes):
    ZNF23    COX7A2    NSRP1    POU4F3    RBM27    ZNF568
    C19orf25    TGFBR3    WDR6    ZNF415    CCPG1    DYNLT3
    IFT122    NLN    SCIMP    SCLT1    GRIK2    KLHDC1

    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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for FANCA (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
    ----------
    rs172274031,2,,4
    C,FFanconi anemia (FA)4 --90802291(-) TCTCAC/GACGTG 2 H D mis1 ese36Minor allele frequency- G:0.00NS NA EU 6103
    rs1498511631,2,,4
    CFanconi anemia (FA)4 --90802341(+) AAAGAC/TGAGCT 2 H R mis11Minor allele frequency- T:0.00NA 4552
    rs1826570621,2,,4
    Fanconi anemia (FA)4 --90802915(+) GATCCA/GGGGCC 2 P L mis10--------
    rs172334971,2,,4
    C,F,HFanconi anemia (FA)4 --90812127(-) TTCGTC/TTGTCC 2 S F mis1 ese321Minor allele frequency- T:0.05NS EA NA MN EU 7875
    rs172331411,2,,4
    C,FFanconi anemia (FA)4 --90830548(-) TGCAGC/GTGCTT 2 S R mis1 ese35Minor allele frequency- G:0.01NS NA EU 6041
    rs172259431,2,,4
    C,F,HFanconi anemia (FA)4 --90866660(-) CTCAGA/GTCTGA 4 D G mis1 ese322Minor allele frequency- G:0.03NS MN NA WA 6752
    rs172322461,2,,4
    C,F,HFanconi anemia (FA)4 --90871717(-) TGAAGC/TGGTGT 4 A V mis131Minor allele frequency- T:0.06NS MN EA NA CSA WA EU 8777
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FANCA
    DNA2.0 Custom Variant and Variant Library Synthesis for FANCA

    (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.)
    About This Section

    TryGeneCards Plus
    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

  • Selected diseases for FANCA (see all 38):    
    About MalaCards
    fanca-related fanconi anemia    fanconi anemia, complementation group a    fanconi's anemia    fanconi anemia, complementation group e
    fanconi anemia, complementation group f    esophageal atresia/tracheoesophageal fistula    tracheoesophageal fistula    esophageal atresia
    fanconi anemia, complementation group b    fanconi anemia, complementation group m    seckel syndrome    fanconi anemia, complementation group c
    pseudoxanthoma elasticum    hereditary pancreatitis    pancytopenia    bloom syndrome
    autosomal recessive disease    familial breast cancer    sporadic breast cancer    esophagitis

    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

    Selected 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

    TryGeneCards Plus

    PubMed articles for FANCA gene, integrated from 10 sources (see all 232):
    (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. (Exp. Hematol. 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. (Genomics 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. (Am. J. Hum. Genet. 1999)
    4. Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. (PubMed id 11091222)1, 2, 9 Tamary H....Zaizov R. (Br. J. Haematol. 2000)
    5. Sequence variation in the Fanconi anemia gene FAA. (PubMed id 9371798)1, 2, 9 Levran O.... Auerbach A.D. (Proc. Natl. Acad. Sci. U.S.A. 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. (Nat. Genet. 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. (BMC Cancer 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. (J. Infect. Dis. 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. (J. Biol. Chem. 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. (J. Hum. Genet. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 2175 HGNC: 3582 AceView: FANCA Ensembl:ENSG00000187741 euGenes: HUgn2175
    ECgene: FANCA Kegg: 2175 H-InvDB: FANCA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=FANCA[genesymbol]
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of FANCA
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for FANCA (FACA/FANCA)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for FANCA   OriGene RNAi products in human, mouse, rat for FANCA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for FANCA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for FANCA  
     OriGene qSTAR qPCR primer pairs in human, mouse for FANCA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for FANCA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FANCA   OriGene Custom Protein Services for FANCA  

     
     
     Block miRNA regulation of human, mouse, rat FANCA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FANCA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANCA Predesigned siRNA for gene silencing in human, mouse, rat FANCA
     QuantiFast Probe-based Assays in human, mouse, rat FANCA QuantiTect SYBR Green Assays in human, mouse, rat FANCA
     PCR Arrays including human, mouse, rat FANCA Search Chromatin IP Primers for FANCA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCA  GeneGlobe Interaction Network for FANCA
     Regulatory tfbs in FANCA promoter
     GenScript Custom Purified and Recombinant Proteins Services for FANCA GenScript cDNA clones with any tag delivered in your preferred vector for FANCA
     GenScript Custom Assay Services for FANCA GenScript Custom overexpressing Cell Line Services for FANCA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for FANCA
     Proteins for FANCA
     Cell Lysates for FANCA
     cDNA Clones for FANCA
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     FANCA antibodies
     FANCA proteins
     FANCA lysates
     Antibodies for FANCA
     See all of Abcam's Antibodies, Kits and Proteins for FANCA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for FANCA
     Antibodies for FANCA
     ELISAs for FANCA
     CLIAs for FANCA



     Browse ESI BIO Cell Lines and PureStem Progenitors for FANCA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCA
     SwitchGear 3'UTR luciferase reporter plasmids for FANCA
     SwitchGear Promoter luciferase reporter plasmids for FANCA
     ThermoFisher Antibody for FANCA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANCA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FANCA
     LSBio Antibodies in human, mouse, rat for FANCA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FANCA gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4