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DFFA Gene

protein-coding   GIFtS: 67
GCID: GC01M010516

DNA Fragmentation Factor, 45kDa, Alpha Polypeptide

(Previous names: DNA fragmentation factor, 45 kD, alpha polypeptide)
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(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
DNA Fragmentation Factor, 45kDa, Alpha Polypeptide1 2     DNA Fragmentation Factor 45 KDa Subunit2 3
DFF12 3 5     45 KD1
Inhibitor Of CAD2 3     Alpha Subunit1
DFF-452 3     DNA Fragmentation Factor1
DFF452 3     DNA Fragmentation Factor, 45 KD, Alpha Polypeptide1
ICAD2 3     DNA Fragmentation Factor Subunit Alpha2

External Ids:    HGNC: 27721   Entrez Gene: 16762   Ensembl: ENSG000001600497   OMIM: 6018825   UniProtKB: O002733   

Export aliases for DFFA gene to outside databases

Previous GC identifers: GC01M010481 GC01M010364 GC01M010130 GC01M010230 GC01M010454 GC01M009674


(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 DFFA Gene:
Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The
apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the
chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB)
and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis.
DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the
active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during
apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for DFFA Gene:
DFFA (DNA fragmentation factor, 45kDa, alpha polypeptide) is a protein-coding gene. GO annotations related to this gene include deoxyribonuclease activity.

UniProtKB/Swiss-Prot: DFFA_HUMAN, O00273
Function: Inhibitor of the caspase-activated DNase (DFF40)

Gene Wiki entry for DFFA 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DFFA gene promoter:
         HOXA9   HOXA9B   AML1a   Pax-5   Pax-2   HNF-4alpha2   Pax-2a   HNF-4alpha1   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDFFA promoter sequence
   Search Chromatin IP Primers for DFFA

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


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

Entrez Gene cytogenetic band: 1p36.3-p36.2   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.3-p36.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M010516:  view genomic region     (about GC identifiers)

Start:
10,516,579 bp from pter      End:
10,532,613 bp from pter
Size:
16,035 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, 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: DFFA_HUMAN, O00273 (See protein sequence)
Recommended Name: DNA fragmentation factor subunit alpha  
Size: 331 amino acids; 36522 Da
Subunit: Heterodimer of DFFA and DFFB
3 PDB 3D structures from and Proteopedia for DFFA:
1IBX (3D)        1IYR (3D)        1KOY (3D)    
Secondary accessions: Q5T6G5 Q5T6G6 Q96I97 Q9Y6C6
Alternative splicing: 2 isoforms:  O00273-1   O00273-2   

Explore the universe of human proteins at neXtProt for DFFA: NX_O00273

Explore proteomics data for DFFA at MOPED

Post-translational modifications: 

  • Caspase-3 cleaves DFF45 at 2 sites to generate an active factor1
  • Ubiquitination2 at Lys189
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_004392.1  NP_998731.1  

    ENSEMBL proteins: 
     ENSP00000366237   ENSP00000468395   ENSP00000366235  
    Reactome Protein details: O00273

    DFFA Human Recombinant Protein Products:

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    Novus Biologicals DFFA Proteins
    Novus Biologicals DFFA Lysates
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    Search eBioscience for ELISAs for DFFA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015121 DNA_fragmentation_mid_dom
     IPR003508 CIDE-N_dom
     IPR017299 DNA_fragmentation_factor_asu
     IPR027296 DFF-C_dom

    Graphical View of Domain Structure for InterPro Entry O00273

    ProtoNet protein and cluster: O00273

    1 Blocks protein domain: IPB003508 Caspase-activated nuclease CIDE-N

    UniProtKB/Swiss-Prot: DFFA_HUMAN, O00273
    Similarity: Contains 1 CIDE-N domain


    Find genes that share domains with DFFA           About GenesLikeMe


    (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: DFFA_HUMAN, O00273
    Function: Inhibitor of the caspase-activated DNase (DFF40)

         Genatlas biochemistry entry for DFFA:
    DNA fragmentation factor,45kDa,alpha subunit heterodimerizing with a 40kDa subunit (DFFB) and inhibitor necessary
    for DFFB expression and stabilization in an inactive state in living cells,activated by caspase-3 during
    apoptosis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004536deoxyribonuclease activity ----
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with DFFA           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for DFFA:
     Decreased POU5F1-GFP protein e  Decreased viability of wild-ty 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dffa):
     behavior/neurological  cellular  homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with DFFA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dffatm1Mxu for DFFA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DFFA
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    hsa-mir-196a-5p (MIRT026094), hsa-let-7b-5p (MIRT052026)

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    4 qRT-PCR Assays for microRNAs that regulate DFFA:
    hsa-miR-3678-3p hsa-miR-1184 hsa-miR-1207-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidDFFA 3' UTR sequence
    Inhib. RNA
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    (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
    DFFA_HUMAN, O00273: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton3
    plasma membrane3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA19882353
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with DFFA           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 DFFA About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    2TWEAK Pathway
    HIV-1 Nef- Negative effector of Fas and TNF-alpha0.46
    Apoptosis through Death Receptors0.42
    Apoptotic Pathways Triggered By HIV10.42
    Fas Signaling0.35
    3Apoptosis (WikiPathways)
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    4Activation of DNA fragmentation factor
    Activation of DNA fragmentation factor0.32
    Apoptosis induced DNA fragmentation0.00
    5Granzyme Pathway
    Granzyme Pathway
    Granzyme-B Pathway0.00


    Find genes that share SuperPaths with DFFA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DFFA (see all 8)
        Caspase Cascade
    Granzyme Pathway
    CTL Mediated Apoptosis
    Fas Signaling
    Granzyme-B Pathway

    1 Cell Signaling Technology (CST) Pathway for DFFA
        Apoptosis and Autophagy

    3 GeneGo (Thomson Reuters) Pathways for DFFA
        Apoptosis and survival Caspase cascade
    Apoptosis and survival NGF signaling pathway
    Apoptosis and survival FAS signaling cascades

    Selected BioSystems Pathways for DFFA (see all 6)
        Apoptosis
    Apoptosis Modulation and Signaling
    FAS pathway and Stress induction of HSP regulation
    Integrated Pancreatic Cancer Pathway
    Caspase cascade in apoptosis

    1 Sino Biological Pathway for DFFA
        Death Receptor Signaling

    1 Reactome Pathway for DFFA
        Activation of DNA fragmentation factor


    1 Kegg Pathway  (Kegg details for DFFA):
        Apoptosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DFFA: 
              TNF Ligands & Receptors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DFFA

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

    Selected Interacting proteins for DFFA (O002731, 2, 3 ENSP000003662374) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DFFBO760752, 3, ENSP000003674544MINT-14806 MINT-14805 I2D: score=6 STRING: ENSP00000367454
    YWHAGP619812, 3, ENSP000003063304MINT-50814 I2D: score=4 STRING: ENSP00000306330
    STRN4Q9NRL32, 3MINT-65597 I2D: score=4 
    YWHAZP631042, 3, ENSP000003095034MINT-51012 I2D: score=5 STRING: ENSP00000309503
    NECAB2Q7Z6G32, 3, ENSP000003074494MINT-66247 I2D: score=4 STRING: ENSP00000307449
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006309apoptotic DNA fragmentation TAS--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007165signal transduction ----
    GO:0035556intracellular signal transduction ----

    Find genes that share ontologies with DFFA           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 DFFA

    8 Novoseek inferred chemical compound relationships for DFFA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shikonin 61.1 3 15453709 (2), 15224412 (1)
    adpribose 55.5 4 11118097 (1), 15115612 (1), 18992795 (1), 17202837 (1)
    silymarin 55 3 15256735 (1), 17943553 (1), 16755000 (1)
    3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide 24.5 3 11696816 (1), 17353905 (1)
    oxygen 17.3 1 10374846 (1)
    atp 0 4 10232605 (2)
    cisplatin 0 9 11696816 (3), 17353905 (3)
    vegf 0 6 11846001 (2), 17548263 (2), 15967748 (2)



    Find genes that share compounds with DFFA           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 DFFA gene (2 alternative transcripts): 
    NM_004401.2  NM_213566.1  

    Unigene Cluster for DFFA:

    DNA fragmentation factor, 45kDa, alpha polypeptide
    Hs.484782  [show with all ESTs]
    Unigene Representative Sequence: NM_213566
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377038(uc001arj.3 uc001ark.3) ENST00000476658 ENST00000377036

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    hsa-miR-3678-3p hsa-miR-1184 hsa-miR-1207-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidDFFA 3' UTR sequence
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    Additional mRNA sequence: 

    AF087573.1 AF103799.1 AK222546.1 AK313317.1 BC000037.2 BC007112.1 BC007721.2 BT006980.1 
    U91985.1 

    11 DOTS entries:

    DT.91885838  DT.311962  DT.100810785  DT.95132568  DT.109383  DT.121453777  DT.100661468  DT.91822355 
    DT.92445834  DT.95203229  DT.100810781 

    Selected AceView cDNA sequences (see all 312):

    BQ961986 AV710647 U91985 AA378167 BT006980 BQ064337 AU117274 BM917078 
    BG774201 BM912803 BE382653 CB124221 BM761931 BF795694 AI435826 CR596851 
    BM849551 BC000037 BF971907 BM927760 AI376617 BM794904 BQ051769 BG762729 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DFFA (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d
    SP1:                                      -           -                             -     -     -                           
    SP2:                                      -           -                                                                     
    SP3:                                      -           -                 -                 -     -                           
    SP4:                                      -           -                 -           -     -     -                           
    SP5:                                      -     -     -     -     -                 -     -     -                           


    ECgene alternative splicing isoforms for DFFA

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


    DFFA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Brain (Nervous System)
             Cerebellum
    DFFA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DFFA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.484782
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DFFA: 
              TNF Ligands & Receptors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFFA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DFFA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dffa1 , 5 DNA fragmentation factor, alpha subunit1, 5 80.85(n)1
    76.6(a)1
      4 (78.87 cM)5
    133471  NM_001025296.21  NP_001020467.11 
     1491041465 
    chicken
    (Gallus gallus)
    Aves DFFA1 DNA fragmentation factor, 45kDa, alpha polypeptide 64.49(n)
    60.46(a)
      419451  XM_417610.4  XP_417610.1 
    lizard
    (Anolis carolinensis)
    Reptilia DFFA6
    DNA fragmentation factor, 45kDa, alpha polypeptide...
    61(a)
    1 ↔ 1
    GL343565.1(306774-320403)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX742543.12   -- 74.67(n)    BX742543.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dffa1 DNA fragmentation factor, alpha polypeptide 55.22(n)
    45.92(a)
      436904  NM_001002631.1  NP_001002631.1 


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

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

    Find genes that share paralogs with DFFA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DFFA
    PGOHUM00000249533


    (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 DFFA (see all 321)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617760171,2
    F--10520197(+) CTCAGG/AAGGCT 2 -- ds50011Minor allele frequency- A:0.50NA 2
    rs584648821,2
    C--10520603(+) TTTTT-/TT    
       
    /TTTT
    GAGAC
    4 -- ut311NA 2
    rs617760191,2
    F--10520712(+) CTCCCA/G/TAGTAG 4 -- ut311CSA 1
    rs348622601,2
    C--10520965(+) ATTAC-/TTTTTT 2 -- ut311Minor allele frequency- T:0.00NA 2
    rs343897371,2
    C--10525459(+) TGGGAT/-TTACA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs617760411,2
    C--10530027(+) GCCACC/TGTGCC 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1926941871,2
    --10530072(+) TTCACC/TATCTT 2 -- int10--------
    rs75323221,2
    C,F,A,H--10530311(+) gcaaaG/Actggg 2 -- int111Minor allele frequency- A:0.14NS EA NA WA 1302
    rs596584141,2
    C--10530480(+) TTTTT-/TGAGAC 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1856948041,2
    --10530659(+) TTGTAG/TTTTTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for DFFA (10516579 - 10532613 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DFFA:    About this table    
    Variant IDTypeSubtypePubMed ID
    essv3548CNV CNV17122850
    dgv17e1CNV Complex17122850

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

    (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: 601882    OMIM disorders: --


    Find genes that share disorders with DFFA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DFFA gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 25.8 1 15707589 (1)
    colon cancer 24.6 4 11929840 (4)
    necrosis 23.3 4 16156899 (1), 9624143 (1), 14675622 (1)
    cancer 21.8 6 12777206 (2), 11846001 (1), 17548263 (1), 15967748 (1)
    tumors 13 30 15492818 (6), 12467059 (2), 11420752 (2), 11696816 (2) (see all 9)
    dysplasia 2.6 1 11846001 (1)
    carcinoma squamous cell 0 1 12467059 (1)
    adenocarcinoma 0 1 14725611 (1)
    metastasis 0 1 12467059 (1)
    adenoma 0 2 12777206 (1), 17548263 (1)

    Genetic Association Database (GAD): DFFA
    Human Genome Epidemiology (HuGE) Navigator: DFFA (2 documents)

    Export disorders for DFFA 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 DFFA gene, integrated from 10 sources (see all 188):
    (articles sorted by number of sources associating them with DFFA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. (PubMed id 9108473)1, 2, 3 Liu X.... Wang X. (Cell 1997)
    2. Functional interaction of DFF35 and DFF45 with caspase-activated DNA fragmentation nuclease DFF40. (PubMed id 10409614)1, 2, 9 Gu J.J....Schlossman S.F. (J. Biol. Chem. 1999)
    3. Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45. (PubMed id 11371636)1, 2, 9 Zhou P.... Wagner G. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Identification of differentially expressed genes associated with HER- 2/neu overexpression in human breast cancer cells. (PubMed id 10497265)1, 2 Oh J.J.... Slamon D.J. (Nucleic Acids Res. 1999)
    8. Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3--&gt;p36.2 by in situ hybridization. (PubMed id 9605855)1, 3 Leek J.P....Lench N.J. (Cytogenet. Cell Genet. 1997)
    9. DFF45 expression in ovarian endometriomas. (PubMed id 19535198)1, 9 Banas T....Basta A. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2009)
    10. Growth phase-dependent expression of ICAD-L/DFF45 modulates the pattern of apoptosis in human colonic cancer cells. (PubMed id 11929840)1, 9 Charrier L....Laboisse C.L. (Cancer Res. 2002)

    (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: 1676 HGNC: 2772 AceView: DFFA Ensembl:ENSG00000160049 euGenes: HUgn1676
    ECgene: DFFA Kegg: 1676 H-InvDB: DFFA

    (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 DFFA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DFFA Genetics and Cytogenetics in Oncology and Haematology

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

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



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