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

DFFA Gene

protein-coding   GIFtS: 65
GCID: GC01M010516

DNA fragmentation factor, 45kDa, alpha polypeptide

(Previous names: DNA fragmentation factor, 45 kD, alpha polypeptide )
 Explore 35 diseases affiliated with
DFFA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DFFA    

Aliases
for DFFA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
DNA Fragmentation Factor, 45kDa, Alpha Polypeptide1 2     Inhibitor Of CAD2 3
DFF11 2 3 5     DNA Fragmentation Factor 45 KDa Subunit2 3
DFF-451 2 3     DNA Fragmentation Factor, 45 KD, Alpha Polypeptide1
DFF451 2 3     DNA Fragmentation Factor Subunit Alpha2
ICAD1 2 3     

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


Summaries
for DFFA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DFFA:
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)

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

Gene Wiki entry for DFFA


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences 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 plasmid: DFFA promoter sequence
   Search SABiosciences Chromatin IP Primers for DFFA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DFFA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • Caspase-3 cleaves DFF45 at 2 sites to generate an active factor1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00273

    • DFFA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000366237   ENSP00000468395   ENSP00000366235  
    Reactome Protein details: O00273
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals DFFA Lysates
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    ProSpec Recombinant Protein for DFFA
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA19882353
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    DFFA for ontologies           About GeneDecksing



    DFFA Antibody Products: 
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    ThermoFisher Antibodies for DFFA

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    GenScript Custom Assay Services for DFFA
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for DFFA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DFFA for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015121 DNA_fragmentation_mid_dom
     IPR003508 CAD
     IPR017299 DNA_fragmentation_factor_asu

    Graphical View of Domain Structure for InterPro Entry O00273

    ProtoNet protein and cluster: O00273

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

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


    Function
    for DFFA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		miRTarBase miRNAs that target DFFA:
    hsa-mir-145 (MIRT004580)

    OriGene 3'-UTR Clone (see all 2): DFFA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DFFA
    4 QIAGEN miScript miRNA 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 plasmid: DFFA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DFFA (see all 7)
    OriGene shRNA RFP: DFFA
    OriGene siRNA: DFFA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DFFA

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DFFA (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): DFFA (NM_004401)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DFFA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFFA 

    Cell Line
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    Search LifeMap BioReagents cell lines for DFFA

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004536deoxyribonuclease activity TAS9108473


    DFFA for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Dffatm1Mxu for DFFA
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dffa):
     behavior/neurological  cellular  homeostasis/metabolism  nervous system 

    DFFA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DFFA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptosis and survival_Caspase cascade
    		Apoptosis and survival_Caspase cascade1.00
    		Apoptosis and survival FAS signaling cascades0.44
    		Apoptosis and survival Caspase cascade1.00
    		Caspase cascade in apoptosis0.42
    		Apoptosis and survival_FAS signaling cascades0.44
    		FAS pathway and Stress induction of HSP regulation0.33
    2TWEAK Pathway
    		HIV-1 Nef- Negative effector of Fas and TNF-alpha0.42
    		Apoptosis through Death Receptors0.32
    		Apoptotic Pathways Triggered By HIV10.37
    		Fas Signaling0.29
    3Activation of DNA fragmentation factor
    		Activation of DNA fragmentation factor1.00
    		Apoptosis induced DNA fragmentation1.00
    4Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    5Granzyme Pathway
    		Granzyme Pathway1.00
    		Granzyme-B Pathway0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for DFFA
        Apoptosis and survival NGF signaling pathway
    Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    5/8 Downloadable PowerPoint Slides of QIAGEN 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

    5/7 BioSystems Pathways for DFFA (see all 7) 
        FAS pathway and Stress induction of HSP regulation
    Apoptosis Modulation and Signaling
    Apoptosis
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    4        Reactome Pathways for DFFA
        Activation of DNA fragmentation factor
    Apoptosis induced DNA fragmentation
    Apoptotic execution phase
    Apoptosis


    1         Kegg Pathway  (Kegg details for DFFA):
        Apoptosis


    DFFA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DFFA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/40 Interacting proteins for DFFA (O002731, 2, 3 ENSP000003662374) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DFFBO760751, 2, 3, ENSP000003674544EBI-727171,EBI-1053821 MINT-14806 MINT-14805 I2D: score=6 STRING: ENSP00000367454
    YWHAGP619812, 3, ENSP000003063304MINT-50814 I2D: score=4 STRING: ENSP00000306330
    BAK1Q166111, 3, ENSP000003635914EBI-727171,EBI-519866 I2D: score=2 STRING: ENSP00000363591
    NAP1L5Q96NT11, 3, ENSP000003204884EBI-727171,EBI-713627 I2D: score=2 STRING: ENSP00000320488
    STRN4Q9NRL32, 3MINT-65597 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006309apoptotic DNA fragmentation TAS--
    GO:0006915apoptotic process TAS--
    GO:0006917induction of apoptosis IEA--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0035556intracellular signal transduction TAS9108473


    DFFA for ontologies           About GeneDecksing



    Drugs & Compounds
    for DFFA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DFFA for compounds           About GeneDecksing

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

    Browse Tocris compounds for DFFA
    8 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DFFA 

    Transcripts
    for DFFA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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


    miRNA
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    hsa-miR-3678-3p hsa-miR-1184 hsa-miR-1207-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmid: DFFA 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/312 AceView cDNA sequences (see all 312):

    BF795694 BM458163 BE382653 BG471014 BM465810 BG762729 BQ425675 BE250704 
    AI435826 CB124221 CB528316 BQ893613 BQ218766 BQ063532 BU187408 CF541207 
    AV710647 BM782064 AU121791 BU687182 BQ064337 BT006980 BQ182982 BM912803 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for DFFA gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DFFA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAGGTGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DFFA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DFFA

    SOURCE GeneReport for Unigene cluster: Hs.484782
        SABiosciences Expression via Pathway-Focused 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
    for DFFA gene

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

    Orthologs for DFFA gene from 5/12 species (see all 12)    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_001025296.11  NP_001020467.11 
     1491041465 
    chicken
    (Gallus gallus)    		 Aves DFFA1 DNA fragmentation factor, 45kDa, alpha polypeptide 64.49(n)
    60.46(a)    		   419451  XM_417610.3  XP_417610.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DFFA6
    		 --
    		 59(a)
    		 1 ↔ 1
    		 GL343565.1(306885-317858)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX742543.12   -- 74.67(n)    BX742543.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dffa1 DNA fragmentation factor, alpha polypeptide 54.35(n)
    44.75(a)    		   436904  NM_001002631.1  NP_001002631.1 


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

    Paralogs
    for DFFA gene

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

    DFFA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DFFA
    PGOHUM00000249533


    Genomic Variants
    for DFFA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/286 NCBI SNPs in DFFA are shown (see all 286)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803369321,2
    		F,--9686624(+) CTGTTG/AGAGAT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs728691191,2
    		C,F,--9686751(+) ATGATC/AAAAAA 1 -- us2k13Minor allele frequency- A:0.28WA 122
    rs75341361,2
    		C,--9686902(+) tgcagC/Tggcgc 1 -- us2k10--------
    rs75200771,2
    		C,F,H,--9686986(+) GTGGGC/TAAGGG 1 -- us2k110Minor allele frequency- T:0.11NS EA NA WA 1246
    rs2021422571,2
    		C--9687641(-) CTCACA/GCNNNN 1 -- us2k10--------
    rs747030191,2
    		F,--9687804(+) TCCTAT/CCCCCA 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1155897891,2
    		C,F,--9687820(+) CTGTAA/GTTGTA 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs768585031,2
    		F,--9687939(+) CTGATG/ATCTAA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1926445421,2
    		--10520160(+) AGCCGA/GGCATG 2 -- ds50010--------
    rs1848988061,2
    		--10520172(+) TGGCAC/GGTGCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DFFA (10516579 - 10532613 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DFFA
         1 CNV: 3281

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    Disorders / Diseases
    for DFFA gene

    (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
    DFFA for disorders           About GeneDecksing

    OMIM gene information: 601882    OMIM disorders: --

    20/35 diseases for DFFA (see all 35):    About MalaCards
    carotid artery dissection    primary biliary cirrhosis    cerebrovascular accident    horner's syndrome
    oral leukoplakia    leukoplakia    germ cell tumor    burkitt's lymphoma
    renal cell carcinoma    diphtheria    down syndrome    colon cancer
    hepatitis c    oligodendroglioma    esophageal carcinoma    carcinoma
    adenoma    colon carcinoma    cervical cancer    esophagitis

    10/12 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: DFFA (2 documents)

    Export disorders for DFFA gene to outside databases

    Publications
    for DFFA gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DFFA gene, integrated from 9 sources (see all 181):
    (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. (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. (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. (2001)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    5. 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. (2004)
    6. 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. (1999)
    7. Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization. (PubMed id 9605855)1, 3 Leek J.P....Lench N.J. (1997)
    8. DFF45 expression in ovarian endometriomas. (PubMed id 19535198)1, 9 Banas T....Basta A. (2009)
    9. 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. (2002)
    10. The differences in RCAS1 and DFF45 endometrial expression between late proliferative, early secretory, and mid-secretory cycle phases. (PubMed id 18292826)1, 9 Popiela T.J....Kalinka J. (2007)

    External Searches for DFFA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DFFA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1676 HGNC: 2772 AceView: DFFA Ensembl:ENSG00000160049 euGenes: HUgn1676
    ECgene: DFFA Kegg: 1676 H-InvDB: DFFA

    Other Databases showing DFFA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DFFA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DFFA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DFFA Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for DFFA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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