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DFFB Gene

protein-coding   GIFtS: 64
GCID: GC01P003797

DNA Fragmentation Factor, 40kDa, Beta Polypeptide (Caspase-Activated...

  See DFFB-related disease
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
DNA Fragmentation Factor, 40kDa, Beta Polypeptide (Caspase-Activated
DNase)1 2
     CPAN2 3
CAD2 3 5     DFF-402 3
DFF22 3 5     DFF402 3
Caspase-Activated Deoxyribonuclease2 3     DNA Fragmentation Factor 40 KDa Subunit2 3
Caspase-Activated DNase2 3     DNA Fragmentation Factor Subunit Beta2
Caspase-Activated Nuclease2 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DFFB 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but
the biological validity of some of these variants has not been determined. (provided by RefSeq, Sep 2013)

GeneCards Summary for DFFB Gene:
DFFB (DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)) is a protein-coding gene. Diseases associated with DFFB include huntington's disease. GO annotations related to this gene include nicotinate phosphoribosyltransferase activity and enzyme binding.

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 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 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 Chromatin IP Primers for DFFB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: 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
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

Explore proteomics data for DFFB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269598.1  NP_004393.1  

    ENSEMBL proteins: 
     ENSP00000367454   ENSP00000436775   ENSP00000463688   ENSP00000462175   ENSP00000343218  
     ENSP00000367448   ENSP00000463704   ENSP00000462770   ENSP00000339524   ENSP00000367457  
     ENSP00000345906  
    Reactome Protein details: O76075

    DFFB Human Recombinant Protein Products:

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    Novus Biologicals DFFB Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DFFB 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for DFFB 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR015311 Apoptosis_DFF40
     IPR003508 CIDE-N_dom

    Graphical View of Domain Structure for InterPro Entry O76075

    ProtoNet protein and cluster: O76075

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

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


    Find genes that share domains with DFFB           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: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004516nicotinate phosphoribosyltransferase activity IEA--
    GO:0004536deoxyribonuclease activity IBA--
    GO:0005515protein binding ----
    GO:0016787hydrolase activity ----
         
    Find genes that share ontologies with DFFB           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DFFB:
     Wnt reporter downregulated 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dffb):
     cellular  growth/size/body  hematopoietic system  immune system 

    Find genes that share phenotypes with DFFB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dffbtm1Osa for DFFB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DFFB
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    miRNA
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    hsa-mir-124-3p (MIRT002560), hsa-mir-421 (MIRT039441)

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    8 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat DFFB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFFB


    (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
    DFFB_HUMAN, O76075: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA19882353
    GO:0005622intracellular ----
    GO:0005634nucleus IDA10959840
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----

    Find genes that share ontologies with DFFB           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 DFFB About   (see all 10)  
    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
    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
    5Apoptotic cleavage of cellular proteins
    Apoptotic execution phase0.74


    Find genes that share SuperPaths with DFFB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected BioSystems Pathways for DFFB (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 Reactome Pathway for DFFB
        Activation of DNA fragmentation factor


    1 Kegg Pathway  (Kegg details for DFFB):
        Apoptosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DFFB
    Interactions:

        GeneGlobe Interaction Network for DFFB

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

    Selected Interacting proteins for DFFB (O760752, 3 ENSP000003674544) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202078 I2D: score=1 STRING: ENSP00000250416
    DFFAO002732, 3, ENSP000003662374MINT-14806 MINT-14805 I2D: score=6 STRING: ENSP00000366237
    CLINT1Q146773, ENSP000003883404I2D: score=1 STRING: ENSP00000388340
    CIDEBQ9UHD43, ENSP000002588074I2D: score=2 STRING: ENSP00000258807
    TOP2AP113883, ENSP000004115324I2D: score=2 STRING: ENSP00000411532
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    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:0007420brain development IEA--
    GO:0030263apoptotic chromosome condensation IDA10959840

    Find genes that share ontologies with DFFB           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 DFFB

    3 Novoseek inferred 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)



    Find genes that share compounds with DFFB           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 DFFB gene (4 alternative transcripts): 
    NM_001282669.1  NM_004402.3  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 qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat DFFB
      QuantiFast Probe-based Assays in human, mouse, rat DFFB

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 36):

    AF409060 NM_004402 AI872124 AA554677 AF409062 AB013918 AI050063 BU629454 
    AY438268 AF409061 NM_001004285 NM_001004286 BC048797 AL602837 AI282937 AF064019 
    BI517452 BG194151 AA551886 AY438267 BG190041 AL702256 AI381242 AI693136 

    GeneLoc Exon Structure

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


    DFFB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    DFFB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DFFB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.133089
        Custom PCR Arrays for DFFB
    Primer
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DFFB gene from Selected species (see all 13)    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 65.95(n)
    60.55(a)
      374158  NM_204285.1  NP_989616.1 
    lizard
    (Anolis carolinensis)
    Reptilia DFFB6
    DNA fragmentation factor, 40kDa, beta polypeptide ...
    59(a)
    1 ↔ 1
    GL343537.1(54670-60453)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dffb1 DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated more 62.5(n)
    58.54(a)
      100145806  NM_001127164.1  NP_001120636.1 
    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 47.67(n)
    36.01(a)
      34734  NM_135787.4  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)
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    Paralogs for DFFB gene

    Find genes that share paralogs with DFFB           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for DFFB
    PGOHUM00000263212 PGOHUM00000236007


    (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 DFFB (see all 838)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1820183111,2
    --3775813(+) GGTTCA/GTGGGA 1 -- int10--------
    rs1149651041,2
    F--3775898(+) GAGAGG/ATGGTT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1504412841,2
    --3775909(+) CTTTCA/GGGGCA 1 -- int10--------
    rs286339181,2
    F--3775991(+) TGACTC/TCCGTA 1 -- int11Minor allele frequency- T:0.13WA 118
    rs1864158861,2
    --3775994(+) CTCCCA/GTAAAA 1 -- int10--------
    rs97869591,2
    C,F--3776022(+) GGGGCA/GGGAGA 1 -- int17Minor allele frequency- G:0.29NA WA EA 366
    rs66603711,2
    C,F,A,H--3776105(+) CTGGCA/GGCCCA 1 -- int111Minor allele frequency- G:0.29NA WA CSA 375
    rs66604591,2
    C,F,A,H--3776166(+) GGGCAA/GAAAGA 1 -- int1 trp310Minor allele frequency- G:0.29NA WA CSA 380
    rs1381825981,2
    C--3776184(+) CGAAGA/TGTAAC 1 -- int10--------
    rs66604671,2
    C,F,A,H--3776190(+) GTAACA/GTCCAT 1 -- int16Minor allele frequency- G:0.33NA WA 246

    HapMap Linkage Disequilibrium report for DFFB (3773845 - 3801993 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DFFB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730361CNV Deletion23290073
    esv992605CNV Deletion20482838
    esv2730472CNV Deletion23290073
    esv1273516CNV Deletion17803354
    esv1008825CNV Deletion20482838
    esv1467252CNV Insertion17803354
    nsv509590CNV Insertion20534489
    nsv871323CNV Loss21882294

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

    (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: 601883    OMIM disorders: --

    1 disease for DFFB:    
    About MalaCards
    huntington's disease


    Find genes that share disorders with DFFB           About GenesLikeMe

    8 Novoseek inferred 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)

    Genetic Association Database (GAD): DFFB
    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)
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    PubMed articles for DFFB gene, integrated from 10 sources (see all 144):
    (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. (Curr. Biol. 1998)
    2. Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leukemic cells. (PubMed id 19882353)1, 2, 9 Ninios Y.P.... Sourlingas T.G. (Apoptosis 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. (Hum. Genet. 2000)
    4. Molecular cloning and characterization of human caspase-activated DNase. (PubMed id 9689044)1, 2, 9 Mukae N....Nagata S. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    5. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (amp 2010)
    6. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    7. 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)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    9. 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. (Cell 1997)
    10. Structure of the heterodimeric complex between CAD domains of CAD and ICAD. (PubMed id 10932250)1, 9 Otomo T....Yamazaki T. (Nat. Struct. Biol. 2000)

    (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: 1677 HGNC: 2773 AceView: DFFB Ensembl:ENSG00000169598 euGenes: HUgn1677
    ECgene: DFFB Kegg: 1677 H-InvDB: DFFB

    (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)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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