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 substrat... See more...

Aliases for DFFB Gene

Aliases for DFFB Gene

  • DNA Fragmentation Factor Subunit Beta 2 3 4 5
  • Caspase-Activated DNase 2 3 4
  • DFF-40 2 3 4
  • DFF40 2 3 4
  • CPAN 2 3 4
  • CAD 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
  • DFF2 3 4
  • EC 3.-.-.- 4
  • DFFB 5

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. Diseases associated with DFFB include Huntington Disease. Among its related pathways are Apoptosis Modulation and Signaling and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include enzyme binding and nuclease activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DFFB Gene

Genomics for DFFB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DFFB Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DFFB

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

Genomic Locations for DFFB Gene

Genomic Locations for DFFB Gene
chr1:3,857,267-3,885,429
(GRCh38/hg38)
Size:
28,163 bases
Orientation:
Plus strand
chr1:3,773,845-3,801,993
(GRCh37/hg19)
Size:
28,149 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 (PubMed:11371636). Interacts with H1-1 (PubMed:19882353).
    Miscellaneous:
    • [Isoform Beta]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform Gamma]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform Delta]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

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

InterPro:
Blocks:
  • Caspase-activated nuclease CIDE-N
ProtoNet:

Suggested Antigen Peptide Sequences for DFFB Gene

GenScript: Design optimal peptide antigens:
  • DNA fragmentation factor 40 kDa subunit (DFFB_HUMAN)
  • DNAation factor B truncated form III (Q96P72_HUMAN)
  • DNAation factor, 40kDa, beta polypeptide (Caspase-activated DNase), isoform CRA_d (Q96P73_HUMAN)
  • DNAation factor B truncated form I (Q96P74_HUMAN)
genes like me logo Genes that share domains with DFFB: view

No data available for Graphical View of Domain Structure and 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 IEA,IMP 19944011
GO:0005515 protein binding IPI 19882353
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DFFB

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
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
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (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 IBA,IDA 22253444
GO:0005634 nucleus IEA,IDA 10959840
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
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

Pathways by source for DFFB Gene

3 GeneGo (Thomson Reuters) pathways for DFFB Gene
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival NGF signaling pathway
2 Qiagen pathways for DFFB Gene
  • Apoptosis through Death Receptors
  • Granzyme Pathway

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 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

mRNA/cDNA for DFFB Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DFFB

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

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 and MOPED for DFFB Gene



Protein tissue co-expression partners for DFFB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DFFB

SOURCE GeneReport for Unigene cluster for DFFB Gene:

Hs.133089

Evidence on tissue expression from TISSUES for DFFB Gene

  • Nervous system(4.4)
  • Lung(4.4)
  • Pancreas(4.3)
  • Blood(2.4)
  • Intestine(2.1)
  • Stomach(2)
  • Adrenal gland(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia DFFB 30 31
  • 93.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DFFB 30 31
  • 80.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dffb 30
  • 79.9 (n)
Mouse
(Mus musculus)
Mammalia Dffb 30 17 31
  • 79.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DFFB 30 31
  • 78.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DFFB 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DFFB 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DFFB 30 31
  • 65.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DFFB 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dffb 30
  • 62.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii dffb 30 31
  • 59.37 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Drep-4 30 31
  • 47.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009681 30
  • 46.79 (n)
Species where no ortholog for DFFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DFFB: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DFFB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12564400 - p.Lys277Arg
rs12738235 - p.Arg196Lys

Additional dbSNP identifiers (rs#s) for DFFB Gene

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
DFFB

SNP Genotyping and Copy Number Assay Products

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

Disorders for DFFB Gene

MalaCards: The human disease database

(1) MalaCards diseases for DFFB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • hd
- elite association - COSMIC cancer census association via MalaCards
Search DFFB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DFFB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DFFB: view

No data available for 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 23
  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 23
  3. Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45. (PMID: 11371636) Zhou P … Wagner G (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23
  4. 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 23
  5. 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 23

Products for DFFB Gene

  • Signalway ELISA kits for DFFB
  • Signalway Proteins for DFFB

Sources for DFFB Gene