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Aliases for DFFA Gene

Aliases for DFFA Gene

  • DNA Fragmentation Factor Subunit Alpha 2 3
  • DNA Fragmentation Factor, 45kDa, Alpha Polypeptide 2 3 5
  • DNA Fragmentation Factor 45 KDa Subunit 3 4
  • Inhibitor Of CAD 3 4
  • DFF-45 3 4
  • DFF45 3 4
  • DFF1 3 4
  • ICAD 3 4
  • DNA Fragmentation Factor, 45 KD, Alpha Polypeptide 2
  • DNA Fragmentation Factor 2
  • Alpha Subunit 2
  • 45 KD 2

External Ids for DFFA Gene

Previous GeneCards Identifiers for DFFA Gene

  • GC01M010481
  • GC01M010364
  • GC01M010130
  • GC01M010230
  • GC01M010454
  • GC01M009674

Summaries for DFFA Gene

Entrez Gene Summary for DFFA 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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DFFA Gene

DFFA (DNA Fragmentation Factor Subunit Alpha) is a Protein Coding gene. Diseases associated with DFFA include Carotid Artery Dissection. Among its related pathways are TWEAK Pathway and Integrated Pancreatic Cancer Pathway.

UniProtKB/Swiss-Prot for DFFA Gene

  • Inhibitor of the caspase-activated DNase (DFF40).

Gene Wiki entry for DFFA Gene

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

Genomics for DFFA Gene

Regulatory Elements for DFFA Gene

Enhancers for DFFA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DFFA on UCSC Golden Path with GeneCards custom track

Promoters for DFFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DFFA on UCSC Golden Path with GeneCards custom track

Genomic Location for DFFA Gene

10,456,522 bp from pter
10,472,556 bp from pter
16,035 bases
Minus strand

Genomic View for DFFA Gene

Genes around DFFA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DFFA Gene

Proteins for DFFA Gene

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

    Protein Symbol:
    Recommended name:
    DNA fragmentation factor subunit alpha
    Protein Accession:
    Secondary Accessions:
    • Q5T6G5
    • Q5T6G6
    • Q96I97
    • Q9Y6C6

    Protein attributes for DFFA Gene

    331 amino acids
    Molecular mass:
    36522 Da
    Quaternary structure:
    • Heterodimer of DFFA and DFFB.

    Three dimensional structures from OCA and Proteopedia for DFFA Gene

    Alternative splice isoforms for DFFA Gene


neXtProt entry for DFFA Gene

Proteomics data for DFFA Gene at MOPED

Post-translational modifications for DFFA Gene

  • Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.
  • Ubiquitination at Lys 189
  • Modification sites at PhosphoSitePlus

Other Protein References for DFFA Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DFFA (DFFA)

No data available for DME Specific Peptides for DFFA Gene

Domains & Families for DFFA Gene

Suggested Antigen Peptide Sequences for DFFA Gene

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for DFFA Gene

Function for DFFA Gene

Molecular function for DFFA Gene

GENATLAS Biochemistry:
DNA fragmentation factor,45kDa,alpha subunit heterodimerizing with a 40kDa subunit (DFFB) and inhibitor necessary for DFFB expression and stabilization in an inactive state in living cells,activated by caspase-3 during apoptosis
UniProtKB/Swiss-Prot Function:
Inhibitor of the caspase-activated DNase (DFF40).
genes like me logo Genes that share phenotypes with DFFA: view

Animal Models for DFFA Gene

MGI Knock Outs for DFFA:

Animal Model Products

miRNA for DFFA Gene

miRTarBase miRNAs that target DFFA

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DFFA Gene

Localization for DFFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for DFFA Gene


Subcellular locations from

Jensen Localization Image for DFFA Gene COMPARTMENTS Subcellular localization image for DFFA gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
mitochondrion 2
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005811 NOT lipid particle IBA --
genes like me logo Genes that share ontologies with DFFA: view

Pathways & Interactions for DFFA Gene

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

SIGNOR curated interactions for DFFA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006309 apoptotic DNA fragmentation TAS --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0043065 positive regulation of apoptotic process IEA --
GO:0070242 thymocyte apoptotic process IEA --
genes like me logo Genes that share ontologies with DFFA: view

Drugs & Compounds for DFFA Gene

(3) Drugs for DFFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for DFFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DFFA: view

Transcripts for DFFA Gene

Unigene Clusters for DFFA Gene

DNA fragmentation factor, 45kDa, alpha polypeptide:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - - -
SP7: - - -
SP8: -
SP9: -

Relevant External Links for DFFA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DFFA Gene

mRNA expression in normal human tissues for DFFA Gene

Protein differential expression in normal tissues from HIPED for DFFA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DFFA Gene

SOURCE GeneReport for Unigene cluster for DFFA Gene Hs.484782

genes like me logo Genes that share expression patterns with DFFA: view

Protein tissue co-expression partners for DFFA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DFFA Gene

Orthologs for DFFA Gene

This gene was present in the common ancestor of chordates.

Orthologs for DFFA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DFFA 35
  • 82.11 (n)
  • 79.27 (a)
-- 36
  • 72 (a)
  • 79 (a)
(Canis familiaris)
Mammalia DFFA 35
  • 81.34 (n)
  • 78.93 (a)
  • 51 (a)
(Mus musculus)
Mammalia Dffa 35
  • 80.85 (n)
  • 76.6 (a)
Dffa 16
Dffa 36
  • 76 (a)
(Pan troglodytes)
Mammalia DFFA 35
  • 98.79 (n)
  • 96.68 (a)
  • 97 (a)
(Rattus norvegicus)
Mammalia Dffa 35
  • 82.32 (n)
  • 79.39 (a)
(Monodelphis domestica)
Mammalia DFFA 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia DFFA 36
  • 68 (a)
(Gallus gallus)
Aves DFFA 35
  • 64.49 (n)
  • 60.46 (a)
  • 59 (a)
(Anolis carolinensis)
Reptilia DFFA 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dffa 35
  • 56.37 (n)
  • 48.26 (a)
(Danio rerio)
Actinopterygii dffa 35
  • 55.22 (n)
  • 45.92 (a)
dffa 36
  • 42 (a)
Species with no ortholog for DFFA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 DFFA Gene

Gene Tree for DFFA (if available)
Gene Tree for DFFA (if available)

Paralogs for DFFA Gene Pseudogenes for DFFA Gene

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

No data available for Paralogs for DFFA Gene

Variants for DFFA Gene

Sequence variations from dbSNP and Humsavar for DFFA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs664947 -- 10,461,208(-) GTGAT(G/T)ggcca utr-variant-3-prime
rs672606 -- 10,466,087(-) cactg(C/T)atcct intron-variant
rs1135131 -- 10,461,143(-) cgtga(A/G)gtcag utr-variant-3-prime
rs1203122 -- 10,464,387(-) Tggcc(A/G)ggcac intron-variant
rs1057017 -- 10,469,292(-) ACCCT(G/T)GTCCT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv17e1 CNV Complex 17122850
essv3548 CNV CNV 17122850

Variation tolerance for DFFA Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.91% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DFFA Gene

Disorders for DFFA Gene

MalaCards: The human disease database

(1) MalaCards diseases for DFFA Gene - From: DISEASES

Disorder Aliases PubMed IDs
carotid artery dissection
  • dissection of carotid artery
- elite association - COSMIC cancer census association via MalaCards
Search DFFA in MalaCards View complete list of genes associated with diseases

Relevant External Links for DFFA

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

No data available for UniProtKB/Swiss-Prot and Genatlas for DFFA Gene

Publications for DFFA Gene

  1. DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis. (PMID: 9108473) Liu X. … Wang X. (Cell 1997) 2 3 4 67
  2. DFF45 expression in ovarian endometriomas. (PMID: 19535198) Banas T. … Basta A. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2009) 3 23
  3. Caspase-2 cleaves DNA fragmentation factor (DFF45)/inhibitor of caspase-activated DNase (ICAD). (PMID: 17945178) Dahal G.R. … Park I.S. (Arch. Biochem. Biophys. 2007) 3 23
  4. The differences in RCAS1 and DFF45 endometrial expression between late proliferative, early secretory, and mid-secretory cycle phases. (PMID: 18292826) Popiela T.J. … Kalinka J. (Folia Histochem. Cytobiol. 2007) 3 23
  5. Subunit structures and stoichiometries of human DNA fragmentation factor proteins before and after induction of apoptosis. (PMID: 12748178) Widlak P. … Garrard W.T. (J. Biol. Chem. 2003) 3 23

Products for DFFA Gene

Sources for DFFA Gene