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FANCD2 Gene

protein-coding   GIFtS: 64
GCID: GC03P010068

Fanconi Anemia, Complementation Group D2


(Previous symbols: FACD, FANCD)
  See FANCD2-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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Aliases
Fanconi Anemia, Complementation Group D21 2     FA42
FACD1 2 3 5     FAD22
FANCD1 2 5     Fanconi Anemia Group D2 Protein2
FAD2 5     Protein FACD23
FA-D22     

External Ids:    HGNC: 35851   Entrez Gene: 21772   Ensembl: ENSG000001445547   OMIM: 6139845   UniProtKB: Q9BXW93   

Export aliases for FANCD2 gene to outside databases

Previous GC identifers: GC03P009997 GC03P010043 GC03P010008


(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 FANCD2 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 D2. This protein is monoubiquinated in response to DNA damage,
resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed
DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. (provided by
RefSeq, Jul 2008)

GeneCards Summary for FANCD2 Gene:
FANCD2 (Fanconi anemia, complementation group D2) is a protein-coding gene. Diseases associated with FANCD2 include fanconi anemia, complementation group d2, and fancd2-related fanconi anemia.

UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9
Function: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs
during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and
single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a
role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after
replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures
induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in
B-cell immunoglobulin isotype switching

Gene Wiki entry for FANCD2 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 at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FANCD2 gene promoter:
         Nkx3-1   Nkx3-1 v4   p53   AP-4   Nkx3-1 v1   Nkx3-1 v2   FAC1   c-Myb   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCD2 promoter sequence
   Search Chromatin IP Primers for FANCD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANCD2


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

Entrez Gene cytogenetic band: 3p26   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.3

FANCD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCD2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P010068:  view genomic region     (about GC identifiers)

Start:
10,068,098 bp from pter      End:
10,143,614 bp from pter
Size:
75,517 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: FACD2_HUMAN, Q9BXW9 (See protein sequence)
Recommended Name: Fanconi anemia group D2 protein  
Size: 1471 amino acids; 166462 Da
Subunit: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form
specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact
with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The
ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit
MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo
Developmental stage: Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone
marrow (at protein level)
Sequence caution: Sequence=BAB14132.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q2LA86 Q69YP9 Q6PJN7 Q9BQ06 Q9H9T9
Alternative splicing: 4 isoforms:  Q9BXW9-1   Q9BXW9-2   Q9BXW9-3   Q9BXW9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FANCD2: NX_Q9BXW9

Explore proteomics data for FANCD2 at MOPED

Post-translational modifications: 

  • Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or
    UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed.
    Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC,
    FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1,
    ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin,
    interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for
    phosphorylation on Ser-222 or interaction with MEN11
  • Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation,
    phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint
    activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on
    other sites may be required for ubiquitination and foci formation1
  • Ubiquitination2 at Lys53, Lys78, Lys133, Lys156, Lys181, Lys261, Lys561, Lys723, Lys913, Lys1390
  • Modification sites at PhosphoSitePlus

  • See FANCD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018125.1  NP_149075.2  

    ENSEMBL proteins: 
     ENSP00000287647   ENSP00000402166   ENSP00000398754   ENSP00000399354   ENSP00000389936  
     ENSP00000373318   ENSP00000373317  
    Reactome Protein details: Q9BXW9

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    (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

    ProtoNet protein and cluster: Q9BXW9

    UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9
    Domain: The C-terminal 24 residues of isoform 2 are required for its function


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FACD2_HUMAN, Q9BXW9
    Function: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs
    during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and
    single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a
    role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after
    replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures
    induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in
    B-cell immunoglobulin isotype switching

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI12874027
    GO:0070182DNA polymerase binding IPI19995904
         
    Find genes that share ontologies with FANCD2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FANCD2:
     Synthetic lethal with Ras 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fancd2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging  nervous system 
     other  reproductive system  tumorigenesis  vision/eye 

    Find genes that share phenotypes with FANCD2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fancd2tm1Hou for FANCD2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANCD2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FANCD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANCD2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FANCD2

    miRNA
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    miRTarBase miRNAs that target FANCD2:
    hsa-let-7b-5p (MIRT052045), hsa-mir-505-3p (MIRT041043), hsa-mir-331-3p (MIRT043406), hsa-mir-193b-3p (MIRT016578), hsa-mir-769-5p (MIRT039141)

    Block miRNA regulation of human, mouse, rat FANCD2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate FANCD2:
    hsa-miR-299-5p hsa-miR-607 hsa-miR-522 hsa-miR-3662 hsa-miR-138-2* hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidFANCD2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FANCD2

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): FANCD2 (NM_033084)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCD2


    (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
    FACD2_HUMAN, Q9BXW9: Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the
    onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end
    of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms
    and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of
    replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges.
    Following aphidicolin treatment, targets chromatid gaps and breaks
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    cytosol1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with FANCD2           About GenesLikeMe


    (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 FANCD2 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway
    Regulation of the Fanconi anemia pathway0.00
    2BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00
    3ERK Signaling
    Molecular Mechanisms of Cancer0.51
    4DNA Repair
    DNA Repair0.45
    5p53 signaling pathway
    DNA damage response0.41


    Find genes that share SuperPaths with FANCD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FANCD2
        ATM Pathway
    Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms
    Molecular Mechanisms of Cancer

    2 GeneGo (Thomson Reuters) Pathways for FANCD2
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint

    3 BioSystems Pathways for FANCD2
        DNA damage response
    TNF-alpha/NF-kB Signaling Pathway
    BARD1 signaling events

    2 Reactome Pathways for FANCD2
        Regulation of the Fanconi anemia pathway
    Fanconi Anemia pathway


    1 Kegg Pathway  (Kegg details for FANCD2):
        Fanconi anemia pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including FANCD2: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FANCD2

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

    Selected Interacting proteins for FANCD2 (Q9BXW91, 2, 3 ENSP000002876474) via UniProtKB, MINT, STRING, and/or I2D (see all 621)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MRE11AP499591, 2, 3, ENSP000003258634EBI-359343,EBI-396513 MINT-7906697 MINT-7906715 MINT-7906725 MINT-7906622 MINT-7906600 MINT-7906581 MINT-7947479 I2D: score=2 STRING: ENSP00000325863
    NBNO609341, 2, 3, ENSP000002654334EBI-359343,EBI-494844 MINT-7906687 MINT-7906666 MINT-7906622 MINT-7906600 MINT-7906581 MINT-7906646 MINT-7947479 I2D: score=3 STRING: ENSP00000265433
    FANCIQ9NVI11, 2, 3, ENSP000003108424EBI-359343,EBI-1013291 MINT-7947479 I2D: score=3 STRING: ENSP00000310842
    BRCA1P383982, 3, ENSP000003502834MINT-19472 MINT-19473 I2D: score=4 STRING: ENSP00000350283
    H2AFXP161042, 3, ENSP000003643104MINT-7906555 I2D: score=4 STRING: ENSP00000364310
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006974cellular response to DNA damage stimulus ----
    GO:0007129synapsis IEA--
    GO:0007276gamete generation IEA--
    GO:0010332response to gamma radiation IDA12874027

    Find genes that share ontologies with FANCD2           About GenesLikeMe



    (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 FANCD2 (FACD2)

    Selected Novoseek inferred chemical compound relationships for FANCD2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitomycin c 81.4 22 12447395 (1), 17412408 (1), 19561358 (1), 16474167 (1) (see all 17)
    diepoxybutane 76.9 3 19287902 (1), 12393398 (1)
    rpa 2 64.7 2 15661754 (1), 15153434 (1)
    melphalan 54.1 2 19934314 (2)
    oleic acid 46.3 6 11171247 (2), 15466222 (1), 17672910 (1), 17069354 (1) (see all 5)
    hydroxyurea 43.6 3 18672388 (1), 15115758 (1)
    aphidicolin 36.6 2 15661754 (2)
    alpha-linolenic acid 35.2 1 17069354 (1)
    linoleic acid 34.7 3 17069354 (3)
    cisplatin 29 1 16648566 (1)



    Find genes that share compounds with FANCD2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FANCD2 gene (2 alternative transcripts): 
    NM_001018115.1  NM_033084.3  

    Unigene Cluster for FANCD2:

    Fanconi anemia, complementation group D2
    Hs.208388  [show with all ESTs]
    Unigene Representative Sequence: BC038666
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287647(uc003buw.3) ENST00000435522 ENST00000419585(uc003buy.1)
    ENST00000431693(uc003buv.3) ENST00000438741 ENST00000483276 ENST00000464934
    ENST00000421731 ENST00000470757 ENST00000480909 ENST00000470028 ENST00000383807(uc003bux.1)
    ENST00000383806(uc010hcw.1)
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    hsa-miR-299-5p hsa-miR-607 hsa-miR-522 hsa-miR-3662 hsa-miR-138-2* hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidFANCD2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): FANCD2 (NM_033084)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCD2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat FANCD2
      QuantiFast Probe-based Assays in human, mouse, rat FANCD2

    Additional mRNA sequence: 

    AF230336.1 AF340183.1 AK022613.1 AK074406.1 AK307512.1 AL832427.1 BC013582.2 BC038666.1 

    13 DOTS entries:

    DT.101957323  DT.99931994  DT.408762  DT.100678572  DT.100019744  DT.100014607  DT.120895800  DT.65288345 
    DT.95201643  DT.40108656  DT.75137809  DT.95320904  DT.87002582 

    23 AceView cDNA sequences:

    CD171848 AI656012 CB146712 AU124890 BM836850 BV180790 AW590391 BX956311 
    BC013582 AL517649 AW821120 BE619536 AF340183 AF230336 NM_033084 BC038666 
    BX451845 BI048112 AK022613 AU128927 BI048172 BI048109 BF899630 

    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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    FANCD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTGGACT
    FANCD2 Expression
    About this image

    FANCD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208388

    UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9
    Tissue specificity: Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and
    in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix.
    Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level).
    Highly expressed in testis, where expression is restricted to maturing spermatocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including FANCD2: 
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FANCD2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fancd21 , 5 Fanconi anemia, complementation group D21, 5 81.03(n)1
    75.3(a)1
      6 (52.78 cM)5
    2116511  NM_001033244.31  NP_001028416.21 
     1135316825 
    chicken
    (Gallus gallus)
    Aves FANCD21 Fanconi anemia, complementation group D2 64.32(n)
    57.85(a)
      415935  NM_001039261.2  NP_001034350.1 
    lizard
    (Anolis carolinensis)
    Reptilia FANCD26
    Fanconi anemia, complementation group D2
    57(a)
    1 ↔ 1
    2(147355849-147415273)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fancd21 Fanconi anemia, complementation group D2 62.88(n)
    59.79(a)
      100487938  XM_002934231.2  XP_002934277.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fancd21 Fanconi anemia, complementation group D2 59.02(n)
    54.71(a)
      394241  NM_201341.1  NP_958498.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fancd21 Fancd2 40.9(n)
    26.17(a)
      2768674  NM_206524.2  NP_996246.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G149701 AT4G14970 46.36(n)
    32.95(a)
      827156  NM_117584.5  NP_193233.5 
    rice
    (Oryza sativa)
    Liliopsida Os07g01544001 Os07g0154400 43.31(n)
    30.41(a)
      4342426  NM_001065450.2  NP_001058915.2 


    ENSEMBL Gene Tree for FANCD2 (if available)
    TreeFam Gene Tree for FANCD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FANCD2 gene

    Find genes that share paralogs with FANCD2           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for FANCD2
    PGOHUM00000237931 PGOHUM00000237934 PGOHUM00000237935


    (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 FANCD2 (see all 2153)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0225624
    Fanconi anemia complementation group D2 (FANCD2)4--see VAR_0225622 R H mis40--------
    VAR_0225604
    Fanconi anemia complementation group D2 (FANCD2)4--see VAR_0225602 R W mis40--------
    VAR_0225594
    Fanconi anemia complementation group D2 (FANCD2)4--see VAR_0225592 S G mis40--------
    rs1867730241,2
    --10001146(+) ATTACA/TAAGCT 2 -- us2k10--------
    rs792994751,2
    --10001227(+) CTTGCA/GGAATT 2 -- us2k10--------
    rs345124571,2
    C,F--10001368(+) GTAAAT/CATAGG 2 -- us2k15Minor allele frequency- C:0.01NS 154
    rs1163213701,2
    --10001449(+) TTTTTC/TGTTTG 2 -- us2k10--------
    rs1900116501,2
    --10001496(+) CTGGAA/CCAAAA 2 -- us2k10--------
    rs1120296141,2
    C,F--10001605(+) CCTCCG/CGAGTA 2 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs7818711,2
    C,F,A,H--10001648(+) GCTAAT/AGTTTA 2 -- us2k110Minor allele frequency- A:0.23NA NS EA 424

    HapMap Linkage Disequilibrium report for FANCD2 (10068098 - 10143614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FANCD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436362CNV Deletion17901297
    dgv809e201CNV Deletion23290073
    esv2724891CNV Deletion23290073
    nsv436869CNV Insertion17901297
    nsv521391CNV Loss19592680
    nsv523205CNV Loss19592680
    nsv876525CNV Gain21882294
    esv1001314CNV Gain20482838
    esv4117CNV Complex18987735

    Human Gene Mutation Database (HGMD): FANCD2
    Locus Specific Mutation Databases (LSDB): FANCD2

    Site Specific Mutation Identification with PCR Assays
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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: 613984   
    OMIM disorders: 227646  
    UniProtKB/Swiss-Prot: FACD2_HUMAN, Q9BXW9
  • Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]: 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

  • 8 diseases for FANCD2:    
    About MalaCards
    fanconi anemia, complementation group d2    fancd2-related fanconi anemia    fanconi anemia, complementation group f    fanconi anemia, complementation group b
    fanconi anemia, complementation group m    fanconi's anemia    fanconi anemia, complementation group c    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for FANCD2:
    Bone marrow disease     Anemia     Genetic disorder

    Find genes that share disorders with FANCD2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FANCD2 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 97.2 59 15849361 (3), 15454491 (2), 16916645 (2), 12239156 (2) (see all 37)
    nijmegen breakage syndrome 51.3 1 11733219 (1)
    cancer 50.5 8 17643815 (3), 12351379 (1), 14517836 (1), 19861535 (1) (see all 5)
    genetic disorder 46.4 1 15886296 (1)
    anemia 41.9 7 18997962 (1), 19609304 (1), 20122765 (1), 19465922 (1) (see all 6)
    breast cancer 37.8 17 17333336 (5), 19504183 (1), 12915460 (1), 19536649 (1) (see all 7)
    ataxia telangiectasia 36.1 2 12447395 (1), 11733219 (1)
    chromosomal aberrations 35.4 1 17332347 (1)
    hnscc 26.7 2 17409780 (1), 16466850 (1)
    tumors 19.7 14 15694018 (2), 12887909 (1), 17333336 (1), 18258493 (1) (see all 8)

    GeneTests: FANCD2
    GeneReviews: FANCD2
    Genetic Association Database (GAD): FANCD2
    Human Genome Epidemiology (HuGE) Navigator: FANCD2 (14 documents)

    Export disorders for FANCD2 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 FANCD2 gene, integrated from 10 sources (see all 239):
    (articles sorted by number of sources associating them with FANCD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning of a novel Fanconi anemia gene, FANCD2. (PubMed id 11239453)1, 2, 3 Timmers C.... Grompe M. (Mol. Cell 2001)
    2. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. (PubMed id 15115758)1, 2, 9 Hussain S.... Mathew C.G. (Hum. Mol. Genet. 2004)
    3. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)1, 2, 9 Wang X.Z.... D'Andrea A.D. (Mol. Cell. Biol. 2004)
    4. FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia. (PubMed id 14517836)1, 2, 9 Hoelzel M.... de Winter J.P. (J. Pathol. 2003)
    5. FANCD2 functions independently of BRCA2 and RAD51 associated homologous recombination in response to DNA damage. (PubMed id 15671039)1, 2, 9 Ohashi A.... Couch F.J. (J. Biol. Chem. 2005)
    6. Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. (PubMed id 15454491)1, 2, 9 Montes de Oca R.... D'Andrea A.D. (Blood 2005)
    7. Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression. (PubMed id 18475298)1, 3, 9 Hays L.E....Bagby G.C. (Br. J. Cancer 2008)
    8. S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. (PubMed id 12239151)1, 2, 9 Taniguchi T.... D'Andrea A.D. (Blood 2002)
    9. Menin associates with FANCD2, a protein involved in repair of DNA damage. (PubMed id 12874027)1, 2, 9 Jin S....Hua X. (Cancer Res. 2003)
    10. The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. (PubMed id 15661754)1, 2, 9 Howlett N.G.... Glover T.W. (Hum. Mol. Genet. 2005)

    (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: 2177 HGNC: 3585 AceView: FANCD2 Ensembl:ENSG00000144554 euGenes: HUgn2177
    ECgene: FANCD2 Kegg: 2177 H-InvDB: FANCD2

    (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 FANCD2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCD2 Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpd2.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FANCD2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fancd2/

    (Patent information from GeneIP,
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    Patent Information for FANCD2 gene:
    Search GeneIP for patents involving FANCD2

    GeneCards and IP:
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