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Aliases for DFFB Gene

Aliases for DFFB Gene

  • DNA Fragmentation Factor Subunit Beta 2 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 Apoptosis induced DNA fragmentation and Regulation of activated PAK-2p34 by proteasome mediated degradation. 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

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

Genomics for DFFB Gene

Regulatory Elements for DFFB Gene

Enhancers for DFFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F003889 0.8 Ensembl ENCODE 30 +33.4 33377 2.8 ESRRA LEF1 TAL1 ZKSCAN1 NCOR1 EED CREM EGR2 SMARCE1 RFX1 C1orf174 DFFB CEP104 PIR62209
GH01F003899 1 FANTOM5 ENCODE 19.5 +43.3 43332 2.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 C1orf174 TP73-AS1 ENSG00000272153 DFFB LINC01777 ENSG00000227169 LINC01646 LRRC47 LINC01134 PIR33659
GH01F003910 1.3 Ensembl ENCODE 19.5 +53.9 53941 1.5 CTCF CBX3 TBL1XR1 TEAD4 KLF17 ARID4B MAX ZIC2 ZNF2 RAD21 DFFB C1orf174 PIR46444 LINC01346
GH01F003907 0.8 Ensembl 14.7 +50.3 50258 0.4 CTCF KLF1 ATF1 PKNOX1 NFXL1 REST RAD21 ZFHX2 JUND SCRT2 DFFB PIR46444 LINC01346
GH01F003880 0.5 ENCODE 13.3 +24.1 24147 0.8 GTF2E2 DFFB C1orf174 PIR62209 CEP104
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DFFB on UCSC Golden Path with GeneCards custom track

Promoters for DFFB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000278677 57 2401 HDGF CREB3L1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for DFFB Gene

Chromosome:
1
Start:
3,857,143 bp from pter
End:
3,885,429 bp from pter
Size:
28,287 bases
Orientation:
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:
    O76075-DFFB_HUMAN
    Recommended name:
    DNA fragmentation factor subunit beta
    Protein Accession:
    O76075
    Secondary Accessions:
    • O60521
    • Q5SR22
    • Q9BYI4
    • Q9BYI5
    • Q9BYI6

    Protein attributes for DFFB Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for DFFB Gene

Post-translational modifications for DFFB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for DFFB

No data available for DME Specific Peptides for DFFB Gene

Domains & Families for DFFB Gene

Protein Domains for DFFB Gene

Graphical View of Domain Structure for InterPro Entry

O76075

UniProtKB/Swiss-Prot:

DFFB_HUMAN :
  • Contains 1 CIDE-N domain.
Domain:
  • Contains 1 CIDE-N domain.
genes like me logo Genes that share domains with DFFB: view

No data available for Gene Families for DFFB Gene

Function for DFFB Gene

Molecular function for DFFB Gene

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

Enzyme Numbers (IUBMB) 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 9671700
GO:0016787 hydrolase activity IEA --
GO:0019899 enzyme binding IPI 10959840
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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for DFFB Gene COMPARTMENTS Subcellular localization image for DFFB gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for DFFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19882353
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,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:0006309 apoptotic DNA fragmentation IEA,TAS --
GO:0006915 apoptotic process IEA --
GO:0030263 apoptotic chromosome condensation IDA 10959840
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:

Inhibitory RNA Products

Flow Cytometry 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: - - - - - -
SP6:
SP7:
SP8:

Relevant External Links for DFFB Gene

GeneLoc Exon Structure for
DFFB
ECgene alternative splicing isoforms for
DFFB

Expression for DFFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, 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:

DFFB

SOURCE GeneReport for Unigene cluster for DFFB Gene:

Hs.133089
genes like me logo Genes that share expression patterns with DFFB: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia DFFB 34 35
  • 93.49 (n)
dog
(Canis familiaris)
Mammalia DFFB 34 35
  • 80.28 (n)
rat
(Rattus norvegicus)
Mammalia Dffb 34
  • 79.9 (n)
mouse
(Mus musculus)
Mammalia Dffb 34 16 35
  • 79.17 (n)
cow
(Bos Taurus)
Mammalia DFFB 34 35
  • 78.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DFFB 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DFFB 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFFB 34 35
  • 65.95 (n)
lizard
(Anolis carolinensis)
Reptilia DFFB 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dffb 34
  • 62.5 (n)
zebrafish
(Danio rerio)
Actinopterygii dffb 34 35
  • 59.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Drep-4 34 35
  • 47.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009681 34
  • 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

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

Paralogs for DFFB Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs10737189 -- 3,878,827(+) ACCCG(C/T)GTCTG intron-variant
rs10752724 -- 3,864,572(+) GCCCA(C/G)GTTGG intron-variant
rs10752726 -- 3,867,099(+) CACTG(G/T)GTTAG intron-variant
rs10752727 -- 3,874,650(+) TCCCA(C/T)GCTGT intron-variant, nc-transcript-variant
rs10797348 -- 3,864,532(+) aatat(A/C)tttta 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)

Relevant External Links for DFFB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DFFB

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

Disorders for DFFB Gene

Relevant External Links for DFFB

Genetic Association Database (GAD)
DFFB
Human Genome Epidemiology (HuGE) Navigator
DFFB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DFFB

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 L.T. (Curr. Biol. 1998) 2 3 4 22 64
  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 Y.P. … Sourlingas T.G. (Apoptosis 2010) 3 4 22 64
  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 D.T. (Hum. Genet. 2000) 3 4 22 64
  4. Molecular cloning and characterization of human caspase-activated DNase. (PMID: 9689044) Mukae N. … Nagata S. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 22 64
  5. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly J.L. … Cerhan J.R. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64

Products for DFFB Gene

Sources for DFFB Gene

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