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Aliases for DFFB Gene

Aliases for DFFB Gene

  • DNA Fragmentation Factor Subunit Beta 2 3 3 5
  • Caspase-Activated DNase 2 3 4
  • DNA Fragmentation Factor, 40kDa, Beta Polypeptide (Caspase-Activated DNase) 2 3
  • DNA Fragmentation Factor 40 KDa Subunit 3 4
  • Caspase-Activated Deoxyribonuclease 3 4
  • Caspase-Activated Nuclease 3 4
  • DFF-40 3 4
  • DFF40 3 4
  • CPAN 3 4
  • DFF2 3 4
  • CAD 3 4
  • EC 3.-.-.- 4

External Ids for DFFB Gene

Previous GeneCards Identifiers for DFFB Gene

  • GC01P003212
  • GC01P003731
  • GC01P003347
  • GC01P003556
  • GC01P003557
  • GC01P003069

Summaries for DFFB Gene

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 Subunit Beta) is a Protein Coding gene. Among its related pathways are Apoptotic cleavage of cellular proteins and Apoptosis induced DNA fragmentation. Gene Ontology (GO) annotations related to this gene include enzyme binding and nuclease activity.

UniProtKB/Swiss-Prot for DFFB Gene

  • Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.

Gene Wiki entry for DFFB Gene

Additional gene information for DFFB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DFFB Gene

Genomics for DFFB Gene

GeneHancer (GH) Regulatory Elements for DFFB Gene

Promoters and enhancers for DFFB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J003856 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.1 148 2.2 HDGF SMAD1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 POLR2B ZNF207 CEP104 DFFB C1orf174 WRAP73 SMIM1 ENSG00000272153
GH01J003899 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 46.6 +43.3 43331 2.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC C1orf174 LINC01134 PIR33659 PIR46444 TP73-AS1 WRAP73 ENSG00000272153 DFFB CEP104 LINC01777
GH01J003676 Enhancer 1.4 FANTOM5 Ensembl ENCODE 19.9 -179.1 -179135 3.2 SMAD1 YBX1 IRF4 ZNF48 ZNF280A ZNF143 ATF7 ZNF548 RUNX3 JUNB LOC105378609 TP73-AS1 DFFB WRAP73 C1orf174 TP73 ENSG00000272153 CEP104 MEGF6 ENSG00000235131
GH01J003889 Enhancer 0.7 Ensembl ENCODE 30 +33.4 33376 2.8 NFIC NFIB IKZF1 EED IKZF2 RUNX3 ZKSCAN1 PIR62209 C1orf174 DFFB CEP104
GH01J003910 Enhancer 0.9 Ensembl ENCODE 19.5 +53.9 53940 1.5 CTCF MXI1 RB1 ARID4B KLF17 MAX ERF ZIC2 ZNF2 RBPJ DFFB C1orf174 PIR46444 LINC01134 LINC01346
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DFFB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DFFB gene promoter:
  • RFX1
  • c-Myb
  • YY1
  • Msx-1
  • TGIF
  • FOXJ2
  • FOXJ2 (long isoform)
  • RP58
  • FAC1

Genomic Locations for DFFB Gene

Genomic Locations for DFFB Gene
28,287 bases
Plus strand
28,149 bases
Plus strand

Genomic View for DFFB Gene

Genes around DFFB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DFFB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DFFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DFFB Gene

Proteins for DFFB Gene

  • Protein details for DFFB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA fragmentation factor subunit beta
    Protein Accession:
    Secondary Accessions:
    • O60521
    • Q5SR22
    • Q9BYI4
    • Q9BYI5
    • Q9BYI6

    Protein attributes for DFFB Gene

    338 amino acids
    Molecular mass:
    39110 Da
    Quaternary structure:
    • Heterodimer of DFFA and DFFB. Interacts with HIST1H1A.

    Three dimensional structures from OCA and Proteopedia for DFFB Gene

    Alternative splice isoforms for DFFB Gene


neXtProt entry for DFFB Gene

Post-translational modifications for DFFB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DFFB Gene

Domains & Families for DFFB Gene

Gene Families for DFFB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DFFB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DFFB: view

No data available for UniProtKB/Swiss-Prot for DFFB Gene

Function for DFFB Gene

Molecular function for DFFB Gene

UniProtKB/Swiss-Prot Function:
Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by DFFA (DFF45).
GENATLAS Biochemistry:
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 Numbers (IUBMB) for DFFB Gene

Phenotypes From GWAS Catalog for DFFB Gene

Gene Ontology (GO) - Molecular Function for DFFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004536 deoxyribonuclease activity TAS,IMP 19944011
GO:0005515 protein binding IPI 9108473
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DFFB: view
genes like me logo Genes that share phenotypes with DFFB: view

Animal Models for DFFB Gene

MGI Knock Outs for DFFB:

Animal Model Products

  • Taconic Biosciences Mouse Models for DFFB

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DFFB Gene

Localization for DFFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for DFFB Gene

Cytoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DFFB gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DFFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 colocalizes_with nuclear chromatin IDA 22253444
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 10959840
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with DFFB: view

Pathways & Interactions for DFFB Gene

genes like me logo Genes that share pathways with DFFB: view

SIGNOR curated interactions for DFFB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DFFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006308 DNA catabolic process IMP 19944011
GO:0006309 apoptotic DNA fragmentation TAS,IEA --
GO:0006915 apoptotic process IEA --
GO:0030263 apoptotic chromosome condensation IDA 10959840
GO:0051260 protein homooligomerization IMP 11371636
genes like me logo Genes that share ontologies with DFFB: view

Drugs & Compounds for DFFB Gene

(3) Drugs for DFFB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DFFB: view

Transcripts for DFFB Gene

Unigene Clusters for DFFB Gene

DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DFFB Gene

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

Relevant External Links for DFFB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DFFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DFFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DFFB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.4), CD8 Tcells (14.9), and Blymphocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DFFB Gene

Protein tissue co-expression partners for DFFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DFFB Gene:


SOURCE GeneReport for Unigene cluster for DFFB Gene:


Evidence on tissue expression from TISSUES for DFFB Gene

  • Nervous system(4.3)
  • Lung(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with DFFB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DFFB Gene

Orthologs for DFFB Gene

This gene was present in the common ancestor of animals.

Orthologs for DFFB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DFFB 34 33
  • 93.49 (n)
(Canis familiaris)
Mammalia DFFB 34 33
  • 80.28 (n)
(Rattus norvegicus)
Mammalia Dffb 33
  • 79.9 (n)
(Mus musculus)
Mammalia Dffb 16 34 33
  • 79.17 (n)
(Bos Taurus)
Mammalia DFFB 34 33
  • 78.83 (n)
(Ornithorhynchus anatinus)
Mammalia DFFB 34
  • 70 (a)
(Monodelphis domestica)
Mammalia DFFB 34
  • 69 (a)
(Gallus gallus)
Aves DFFB 34 33
  • 65.95 (n)
(Anolis carolinensis)
Reptilia DFFB 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dffb 33
  • 62.5 (n)
(Danio rerio)
Actinopterygii dffb 34 33 33
  • 59.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Drep-4 34 33
  • 47.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009681 33
  • 46.79 (n)
Species where no ortholog for DFFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DFFB Gene

Gene Tree for DFFB (if available)
Gene Tree for DFFB (if available)
Evolutionary constrained regions (ECRs) for DFFB: view image

Paralogs for DFFB Gene Pseudogenes for DFFB Gene

genes like me logo Genes that share paralogs with DFFB: view

No data available for Paralogs for DFFB Gene

Variants for DFFB Gene

Sequence variations from dbSNP and Humsavar for DFFB Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000080745 -- 3,855,717(+) C/T upstream_transcript_variant
rs1000102654 -- 3,857,280(+) T/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000220241 -- 3,881,297(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000304323 -- 3,876,206(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000436074 -- 3,871,157(+) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DFFB Gene

Variant ID Type Subtype PubMed ID
esv1008825 CNV deletion 20482838
esv1273516 CNV deletion 17803354
esv1467252 CNV insertion 17803354
esv3585042 CNV gain 21293372
esv3585052 CNV gain 21293372
esv992605 CNV deletion 20482838
nsv1012423 CNV gain 25217958
nsv472199 CNV novel sequence insertion 20440878
nsv473755 CNV novel sequence insertion 20440878
nsv474298 CNV novel sequence insertion 20440878
nsv474895 CNV novel sequence insertion 20440878
nsv476313 CNV novel sequence insertion 20440878
nsv479517 CNV novel sequence insertion 20440878
nsv479682 CNV novel sequence insertion 20440878
nsv480404 CNV novel sequence insertion 20440878
nsv480517 CNV novel sequence insertion 20440878
nsv480530 CNV novel sequence insertion 20440878
nsv480565 CNV novel sequence insertion 20440878
nsv480658 CNV novel sequence insertion 20440878
nsv480762 CNV novel sequence insertion 20440878
nsv480775 CNV novel sequence insertion 20440878
nsv480877 CNV novel sequence insertion 20440878
nsv481045 CNV novel sequence insertion 20440878
nsv509590 CNV insertion 20534489
nsv545130 CNV gain 21841781

Variation tolerance for DFFB Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DFFB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DFFB Gene

Disorders for DFFB Gene

Additional Disease Information for DFFB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DFFB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DFFB Gene

Publications for DFFB Gene

  1. CPAN, a human nuclease regulated by the caspase-sensitive inhibitor DFF45. (PMID: 9560346) Halenbeck R … Williams LT (Current biology : CB 1998) 2 3 4 22 58
  2. Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leukemic cells. (PMID: 19882353) Ninios YP … Sourlingas TG (Apoptosis : an international journal on programmed cell death 2010) 3 4 22 58
  3. Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene. (PMID: 10830907) Judson H … Bonthron DT (Human genetics 2000) 3 4 22 58
  4. Molecular cloning and characterization of human caspase-activated DNase. (PMID: 9689044) Mukae N … Nagata S (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 58
  5. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly JL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58

Products for DFFB Gene

Sources for DFFB Gene

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