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

DFFB Gene

protein-coding   GIFtS: 64
GCID: GC01P003797

DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated...

 Explore 26 diseases affiliated with
DFFB via our new
 Human Malady Compendium 
Biological research products
for DFFB
    

(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, 40kDa, Beta Polypeptide (Caspase-Activated
DNase)1 2
     Caspase-Activated Deoxyribonuclease2 3
CAD1 2 3 5     Caspase-Activated DNase2 3
CPAN1 2 3     Caspase-Activated Nuclease2 3
DFF-401 2 3     DNA Fragmentation Factor 40 KDa Subunit2 3
DFF401 2 3     DNA Fragmentation Factor Subunit Beta2
DFF22 3 5     EC 3.-.-.-3

External Ids:    HGNC: 27731   Entrez Gene: 16772   Ensembl: ENSG000001695987   OMIM: 6018835   UniProtKB: O760753   

Export aliases for DFFB gene to outside databases

Previous GC identifers: GC01P003212 GC01P003731 GC01P003347 GC01P003556 GC01P003557 GC01P003069


(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 DFFB:
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. Alternatively
spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of
these variants has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DFFB_HUMAN, O76075
Function: Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and
induces apoptotic morphology

Gene Wiki entry for DFFB


(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_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DFFB gene promoter:
         RP58   RFX1   YY1   FAC1   FOXJ2 (long isoform)   c-Myb   Msx-1   FOXJ2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDFFB promoter sequence
   Search SABiosciences Chromatin IP Primers for DFFB

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


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

Entrez Gene cytogenetic band: 1p36.3   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P003797:  view genomic region     (about GC identifiers)

Start:
3,773,845 bp from pter      End:
3,801,993 bp from pter
Size:
28,149 bases      Orientation:
plus strand

(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: DFFB_HUMAN, O76075 (See protein sequence)
Recommended Name: DNA fragmentation factor subunit beta  
Size: 338 amino acids; 39110 Da
Subunit: Heterodimer of DFFA and DFFB. Interacts with HIST1H1A
Subcellular location: Cytoplasm. Nucleus
1 PDB 3D structure from and Proteopedia for DFFB:
1IBX (3D)    
Secondary accessions: O60521 Q5SR22 Q9BYI4 Q9BYI5 Q9BYI6
Alternative splicing: 4 isoforms:  O76075-1   O76075-2   O76075-3   O76075-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for DFFB: NX_O76075

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O76075

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

    REFSEQ proteins: NP_004393.1  
    ENSEMBL proteins: 
     ENSP00000367454   ENSP00000436775   ENSP00000463688   ENSP00000462175   ENSP00000343218  
     ENSP00000367448   ENSP00000463704   ENSP00000462770   ENSP00000339524   ENSP00000367457  
     ENSP00000345906  
    Reactome Protein details: O76075
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DFFB

    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:0005622intracellular ----
    GO:0005634nucleus IDA15572351
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--


    DFFB for ontologies           About GeneDecksing



    DFFB Antibody Products: 
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    ThermoFisher Antibody for DFFB

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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DFFB


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

    DFFB for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015311 Apoptosis_DFF40
     IPR003508 CAD

    Graphical View of Domain Structure for InterPro Entry O76075

    ProtoNet protein and cluster: O76075

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

    UniProtKB/Swiss-Prot: DFFB_HUMAN, O76075
    Similarity: Contains 1 CIDE-N domain


    (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: DFFB_HUMAN, O76075
    Function: Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and
    induces apoptotic morphology
    Enzyme regulation: Inhibited by DFFA (DFF45)

         Genatlas biochemistry entry for DFFB:
    DNA fragmentation factor,beta polypeptide,DNAse,activated by caspase 3,expressed in a limited number of tissues
    including pancreas,spleen,prostate,ovary,regulated by DFFA,involved in apoptosis

    Enzyme Number (IUBMB): EC 3.-.-.-1

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate DFFB:
    hsa-miR-607 hsa-miR-137 hsa-miR-1297 hsa-miR-361-3p hsa-miR-26a hsa-miR-15b* hsa-miR-26b hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidDFFB 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFFB 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFFB

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004516nicotinate phosphoribosyltransferase activity IEA--
    GO:0004536deoxyribonuclease activity IEA--
    GO:0005515protein binding ----
    GO:0019899enzyme binding IPI10959840


    DFFB for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DFFB:
     Wnt reporter downregulated 

    Animal Models:
         Mouse knock-out Dffbtm1Osa for DFFB
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dffb):
     cellular  growth/size  hematopoietic system  immune system 

    DFFB for phenotypes           About GeneDecksing


    (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 - 5/10 super-pathways (see all 10About 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
    2Activation of DNA fragmentation factor
    Activation of DNA fragmentation factor1.00
    Apoptosis induced DNA fragmentation1.00
    3Apoptosis Modulation and Signaling
    Apoptosis Modulation and Signaling1.00
    Apoptosis0.38
    4Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway1.00
    Integrated Pancreatic Cancer Pathway0.99
    5TWEAK Pathway
    HIV-1 Nef- Negative effector of Fas and TNF-alpha0.42
    Apoptosis through Death Receptors0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DFFB
        Apoptosis through Death Receptors
    Granzyme Pathway

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

    5/7 BioSystems Pathways for DFFB (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 DFFB
        Activation of DNA fragmentation factor
    Apoptosis induced DNA fragmentation
    Apoptotic execution phase
    Apoptosis


    1         Kegg Pathway  (Kegg details for DFFB):
        Apoptosis


    DFFB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DFFB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/45 Interacting proteins for DFFB (O760751, 2, 3 ENSP000003674544) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202078 I2D: score=1 STRING: ENSP00000250416
    DFFAO002731, 2, 3, ENSP000003662374EBI-1053821,EBI-727171 MINT-14806 MINT-14805 I2D: score=6 STRING: ENSP00000366237
    CIDEBQ9UHD43, ENSP000002588074I2D: score=2 STRING: ENSP00000258807
    TOP2AP113883, ENSP000004115324I2D: score=2 STRING: ENSP00000411532
    BMI1P352262, ENSP000003658514MINT-8010325 STRING: ENSP00000365851
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO: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:0030263apoptotic chromosome condensation IDA10959840


    DFFB for ontologies           About GeneDecksing



    (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

    DFFB for compounds           About GeneDecksing

    EMD Millipore small molecules for DFFB:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DFFB
    3 Novoseek chemical compound relationships for DFFB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    etoposide 1.67 1 11694507 (1)
    atp 0 2 12738667 (1)
    histidine 0 4 11361146 (1), 12899615 (1)

    Search CenterWatch for drugs/clinical trials and news about DFFB 

    (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 DFFB gene (3 alternative transcripts): 
    NM_004402.2  NM_001004285.1  NM_001004286.1  

    Unigene Cluster for DFFB:

    DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
    Hs.133089  [show with all ESTs]
    Unigene Representative Sequence: BC048797
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378209(uc001alc.3 uc001ale.3 uc001alb.3 uc010nzn.2 uc009vlq.3 uc009vlr.3 uc001ald.3)
    ENST00000491998(uc009vlp.3) ENST00000468793 ENST00000477548 ENST00000339350
    ENST00000378206 ENST00000475969 ENST00000481945 ENST00000461150 ENST00000338895(uc009vln.1 uc009vlo.1)
    ENST00000378212 ENST00000341385(uc001ala.1)

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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate DFFB:
    hsa-miR-607 hsa-miR-137 hsa-miR-1297 hsa-miR-361-3p hsa-miR-26a hsa-miR-15b* hsa-miR-26b hsa-miR-548n
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    Additional cDNA sequence: 

    AB013918.1 AB028911.1 AB028912.1 AB028913.1 AF039210.1 AF064019.1 AF409060.1 AF409061.1 
    AF409062.1 AK027141.1 AK290877.1 AK303065.1 AK309316.1 AY438267.1 AY438268.1 BC032827.1 
    BC048797.1 

    8 DOTS entries:

    DT.91741566  DT.97838204  DT.101981567  DT.101981568  DT.105309  DT.91741565  DT.121341039  DT.95159719 

    24/36 AceView cDNA sequences (see all 36):

    NM_001004286 BU629454 AF409061 AA554677 AY438268 NM_001004285 AF409060 NM_004402 
    AF409062 AI050063 AB013918 AI872124 BC048797 AL702256 AI282937 AI381242 
    BG190041 BG194151 AF039210 AL602837 AI693136 BI517452 AA551886 AB028912 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for DFFB (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
    SP1:              -                       -                       -     -                     
    SP2:                    -     -           -                       -     -                     
    SP3:              -     -     -           -                       -     -                     
    SP4:              -     -                 -                       -     -                     
    SP5:              -     -     -     -                             -     -                     


    ECgene alternative splicing isoforms for DFFB

    (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

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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DFFB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DFFB

    SOURCE GeneReport for Unigene cluster: Hs.133089
        SABiosciences Custom PCR Arrays for DFFB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFFB

    (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 animals.

    Orthologs for DFFB gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dffb1 , 5 DNA fragmentation factor, beta subunit1, 5 79.17(n)1
    77.68(a)1
      4 (83.78 cM)5
    133681  NM_007859.41  NP_031885.31 
     1539644495 
    chicken
    (Gallus gallus)
    Aves DFFB1 DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated more 66.46(n)
    61.18(a)
      374158  NM_204285.1  NP_989616.1 
    lizard
    (Anolis carolinensis)
    Reptilia DFFB6
    --
    58(a)
    1 ↔ 1
    GL343537.1(55285-58574)
    zebrafish
    (Danio rerio)
    Actinopterygii dffb2 DNA fragmentation factor, beta polypeptide (caspase-activated more 74.27(n)   373130  AF286179.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Drep-41 DNA fragmentation factor-related protein 4 47.49(n)
    36.14(a)
      34734  NM_135787.3  NP_609631.1 


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

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

    DFFB for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for DFFB
    PGOHUM00000263212 PGOHUM00000236007


    (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

    10/780 NCBI SNPs in DFFB are shown (see all 780    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1141760261,2
    F,--3771894(+) GCACAT/CGCCAC 2 -- int1 us2k12Minor allele frequency- C:0.08NA EA 240
    rs709403331,2
    C--3771913(-) CCTAC-/AAAAAA 2 -- int1 us2k11Minor allele frequency- A:0.00NA 2
    rs1898320011,2
    --3772023(+) CCGCCA/GAGCCT 2 -- us2k1 int10--------
    rs1174318771,2
    F,--3772055(+) AACACT/CCTCTG 2 -- us2k1 int11Minor allele frequency- C:0.12EA 120
    rs1824835671,2
    --3772124(+) TATGCC/TATACT 2 -- us2k1 int10--------
    rs1395580361,2
    --3772162(+) TGGCAC/TTTAAG 2 -- us2k1 int10--------
    rs1871727321,2
    --3772229(+) GTATTG/TGAAAA 2 -- int1 us2k10--------
    rs46483481,2
    C,F,--3772275(+) TTCCAG/TTTGTA 2 -- int1 us2k17Minor allele frequency- T:0.29NA WA EA 366
    rs45640781,2
    C,F,A,H,--3772359(+) TTAGGC/TTCTAT 2 -- us2k1 int1 tfbs323Minor allele frequency- T:0.39NS EA NA WA CSA 2347
    rs1918344491,2
    --3772435(+) TTCCTC/TACCAG 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for DFFB (3773845 - 3801993 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DFFB
         1 Indel: 24198

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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.)
    About This Section

    DFFB for disorders           About GeneDecksing

    OMIM gene information: 601883    OMIM disorders: --

    20/26 diseases for DFFB (see all 26):    About MalaCards
    polyarteritis nodosa    temporal lobe epilepsy    status epilepticus    non-hodgkin lymphoma
    hodgkin's lymphoma    dilated cardiomyopathy    huntington's disease    squamous cell carcinoma
    cervical carcinoma    cervicitis    oligodendroglioma    cardiomyopathy
    esophageal carcinoma    cervical cancer    seizures    esophagitis
    carcinoma    prostate cancer    glioblastoma    cerebritis

    8 Novoseek disease relationships for DFFB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehrlich ascites tumor 40.9 2 17372679 (1), 16216405 (1)
    huntington disease 24.6 2 16202123 (1), 15644269 (1)
    cervical carcinoma 12.6 2 14725611 (1), 17239993 (1)
    tumors 11 8 16156899 (2), 11606398 (1), 17372679 (1), 16216405 (1)
    necrosis 9.51 6 11752060 (2), 17218958 (1), 16156899 (1), 11606398 (1)
    cancer 4.12 2 12610505 (1), 16007181 (1)
    ischemia 0 4 11752060 (2), 15237451 (1)
    adenocarcinoma 0 1 14725611 (1)

    Human Genome Epidemiology (HuGE) Navigator: DFFB (1 document)

    Export disorders for DFFB gene to outside databases

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

    PubMed articles for DFFB gene, integrated from 9 sources (see all 139):
    (articles sorted by number of sources associating them with DFFB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CPAN, a human nuclease regulated by the caspase-sensitive inhibitor DFF45. (PubMed id 9560346)1, 2, 3, 9 Halenbeck R....Williams L.T. (1998)
    2. Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leuke mic cells. (PubMed id 19882353)1, 2, 9 Ninios Y.P....Sourlingas T.G. (2010)
    3. Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene. (PubMed id 10830907)1, 2, 9 Judson H.... Bonthron D.T. (2000)
    4. Molecular cloning and characterization of human caspase-activated DNase. (PubMed id 9689044)1, 2, 9 Mukae N....Nagata S. (1998)
    5. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    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. (2004)
    7. The 40-kDa subunit of DNA fragmentation factor induces DNA fragmentation and chromatin condensation during apoptosis. (PubMed id 9671700)1, 2 Liu X.... Wang X. (1998)
    8. DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. (PubMed id 9108473)1, 3 Liu X.... Wang X. (1997)
    9. Structure of the heterodimeric complex between CAD domains of CAD and ICAD. (PubMed id 10932250)1, 9 Otomo T....Yamazaki T. (2000)
    10. Heat shock protein 70 binds caspase-activated DNase and enhances its activity in TCR-stimulated T cells. (PubMed id 12738667)1, 9 Liu Q.L....Muraguchi A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1677 HGNC: 2773 AceView: DFFB Ensembl:ENSG00000169598 euGenes: HUgn1677
    ECgene: DFFB Kegg: 1677 H-InvDB: DFFB

    (According to HUGE)
    About This Section
      --

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

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

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



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