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Aliases for DFFA Gene

Aliases for DFFA Gene

  • DNA Fragmentation Factor Subunit Alpha 2 3 5
  • DNA Fragmentation Factor, 45kDa, Alpha Polypeptide 2 3
  • 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, 45 KD, Alpha Subunit 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 Apoptosis induced DNA fragmentation and Regulation of activated PAK-2p34 by proteasome mediated degradation.

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 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
GH01F010494 1.7 FANTOM5 Ensembl ENCODE 12 -24.3 -24285 4.9 ATF1 PKNOX1 ARID4B SIN3A DMAP1 BRCA1 ZNF2 ZNF48 YY1 ZNF121 PEX14 DFFA APITD1-CORT CENPS CORT ENSG00000203469 ENSG00000271989 PGD GC01P010513
GH01F010897 1.5 FANTOM5 Ensembl ENCODE 10.2 -427.7 -427704 5.1 PKNOX1 FEZF1 DMAP1 GLIS2 ZNF143 FOS REST MBD2 MAFF ZNF585B DFFA NPPA-AS1 HSPE1P24 C1orf127
GH01F010449 1.3 Ensembl ENCODE 11.6 +21.5 21478 2.2 HDGF ATF1 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 GATA2 PGD ENSG00000271989 APITD1-CORT CENPS DFFA PEX14 C1orf127 CORT ENSG00000203469
GH01F010413 1.4 Ensembl ENCODE 10.6 +57.1 57121 3.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 PGD UBIAD1 EXOSC10 CORT PEX14 DFFA PIK3CD-AS2 ENSG00000226849 APITD1-CORT CENPS
GH01F010533 1.4 VISTA 9.4 -61.1 -61054 1.1 PRDM1 C1orf127 PEX14 DFFA ENSG00000271989 PIR58493 GC01P010513
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

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

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).

Gene Ontology (GO) - Molecular Function for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22727028
genes like me logo Genes that share ontologies with DFFA: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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 DFFA gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19882353
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 15572351
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
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

(4) Drugs for DFFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DFFA Gene

Protein tissue co-expression partners for DFFA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DFFA Gene:


SOURCE GeneReport for Unigene cluster for DFFA Gene:

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

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
(Pan troglodytes)
Mammalia DFFA 34 35
  • 98.79 (n)
(Rattus norvegicus)
Mammalia Dffa 34
  • 82.32 (n)
(Bos Taurus)
Mammalia DFFA 34 35
  • 82.11 (n)
-- 35
  • 72 (a)
(Canis familiaris)
Mammalia DFFA 34 35
  • 81.34 (n)
(Mus musculus)
Mammalia Dffa 34 16 35
  • 80.85 (n)
(Monodelphis domestica)
Mammalia DFFA 35
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia DFFA 35
  • 68 (a)
(Gallus gallus)
Aves DFFA 34 35
  • 64.49 (n)
(Anolis carolinensis)
Reptilia DFFA 35
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dffa 34
  • 56.37 (n)
(Danio rerio)
Actinopterygii dffa 34 35
  • 55.22 (n)
Species where no ortholog for DFFA was found in the sources mined by GeneCards:
  • 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
rs1057017 -- 10,469,292(-) ACCCT(G/T)GTCCT reference, synonymous-codon
rs1057026 -- 10,461,197(-) ggcgc(A/G)gtggc utr-variant-3-prime
rs10864457 -- 10,462,133(+) GATTA(C/T)AGGCG intron-variant, utr-variant-3-prime
rs11121573 -- 10,462,716(+) CAGAC(C/G)TCAGG intron-variant, utr-variant-3-prime
rs111443910 -- 10,460,906(+) CAATT(A/C)CTTTT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2758920 CNV gain+loss 17122850
esv2764192 CNV gain 21179565
nsv1075141 CNV deletion 25765185

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)

Relevant External Links for DFFA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45. (PMID: 11371636) Zhou P. … Wagner G. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  2. Functional interaction of DFF35 and DFF45 with caspase-activated DNA fragmentation nuclease DFF40. (PMID: 10409614) Gu J.J. … Schlossman S.F. (J. Biol. Chem. 1999) 3 4 22 64
  3. 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 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. DFF45 expression in ovarian endometriomas. (PMID: 19535198) Banas T. … Basta A. (Eur. J. Obstet. Gynecol. Reprod. Biol. 2009) 3 22 64

Products for DFFA Gene

Sources for DFFA Gene

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