Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DFFA Gene

Aliases for DFFA Gene

  • DNA Fragmentation Factor Subunit Alpha 2 3 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 Moyamoya Disease 1 and Carotid Artery Dissection. Among its related pathways are TNFR1 Pathway and Apoptotic cleavage of cellular proteins.

UniProtKB/Swiss-Prot for DFFA Gene

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

Gene Wiki entry for DFFA Gene

Additional gene information for DFFA Gene

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

Genomics for DFFA Gene

GeneHancer (GH) Regulatory Elements for DFFA Gene

Promoters and enhancers for DFFA 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
GH01J010471 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.0 2 2.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 DFFA PEX14 RBP7
GH01J010662 Enhancer 2.5 VISTA UCNEbase FANTOM5 Ensembl ENCODE dbSUPER 10.1 -203.9 -203943 28 PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 TARDBP ENSG00000226849 EXOSC10 MTOR ENSG00000271895 C1orf127 DFFA PGD RBP7 CASZ1
GH01J011011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 -540.5 -540533 3.4 HDGF CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TARDBP ENSG00000277726 ENSG00000226849 EXOSC10 CLCN6 ENSG00000271895 FBXO44 DFFA MASP2 ANGPTL7
GH01J010494 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12 -24.4 -24391 4.7 HDGF ELF3 PKNOX1 RB1 ARID4B BMI1 ZNF2 RAD21 RFX5 ZNF335 PEX14 DFFA CENPS-CORT CENPS CORT ENSG00000203469 ENSG00000271989 PGD GC01P010513
GH01J010413 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.6 +57.1 57121 3.1 HDGF PKNOX1 ATF1 ARNT POLR2B ZNF766 ATF7 KDM4B ZNF592 MEF2D PGD CORT DFFA PEX14 CENPS-CORT CENPS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DFFA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DFFA gene promoter:
  • Meis-1b
  • Meis-1
  • HOXA9B
  • HOXA9
  • Pax-2
  • Pax-2a
  • HNF-4alpha2
  • HNF-4alpha1
  • Pax-5
  • AML1a

Genomic Locations for DFFA Gene

Genomic Locations for DFFA Gene
16,035 bases
Minus strand
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 posLast=189189
  • Modification sites at PhosphoSitePlus

Other Protein References for DFFA Gene

Antibody Products

  • Abcam antibodies for DFFA

No data available for DME Specific Peptides for DFFA Gene

Domains & Families for DFFA Gene

Gene Families for DFFA Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DFFA Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for DFFA Gene

Molecular function for DFFA Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of the caspase-activated DNase (DFF40).
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

Phenotypes From GWAS Catalog for DFFA Gene

Gene Ontology (GO) - Molecular Function for DFFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9108473
GO:0019904 protein domain specific binding IPI 11371636
GO:0044183 protein binding involved in protein folding IPI 19944011
GO:0060703 deoxyribonuclease inhibitor activity IMP 19944011
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

Clone Products

  • Addgene plasmids for DFFA

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

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 IEA --
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:0032076 negative regulation of deoxyribonuclease activity IMP 19944011
GO:0042981 regulation of apoptotic process IBA --
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

mRNA/cDNA for DFFA Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(312) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DFFA Gene

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

Clone Products

  • Addgene plasmids for DFFA

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 CGAP 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, 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:


Evidence on tissue expression from TISSUES for DFFA Gene

  • Muscle(4.6)
  • Kidney(4.4)
  • Liver(4.4)
  • Eye(4.2)
  • Nervous system(2.9)
  • Blood(2.2)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.79 (n)
(Rattus norvegicus)
Mammalia Dffa 33
  • 82.32 (n)
(Bos Taurus)
Mammalia DFFA 34 33
  • 82.11 (n)
-- 34
  • 72 (a)
(Canis familiaris)
Mammalia DFFA 34 33
  • 81.34 (n)
(Mus musculus)
Mammalia Dffa 16 34 33
  • 80.85 (n)
(Monodelphis domestica)
Mammalia DFFA 34
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia DFFA 34
  • 68 (a)
(Gallus gallus)
Aves DFFA 34 33
  • 64.49 (n)
(Anolis carolinensis)
Reptilia DFFA 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dffa 33
  • 56.37 (n)
(Danio rerio)
Actinopterygii dffa 34 33
  • 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)
Evolutionary constrained regions (ECRs) for DFFA: view image

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 Variation AA Info Type
rs1000162386 -- 10,460,107(-) T/A downstream_transcript_variant
rs1000272447 -- 10,465,425(-) C/A intron_variant
rs1000403393 -- 10,460,819(-) C/G/T 3_prime_UTR_variant
rs1000407027 -- 10,472,178(-) T/C/G intron_variant
rs1000445357 -- 10,460,301(-) C/A/T downstream_transcript_variant

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)

Additional Variant Information for DFFA 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 DFFA Gene

Disorders for DFFA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
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

Additional Disease Information for DFFA

Genetic Association Database
Human Genome Epidemiology 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 (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58
  2. Functional interaction of DFF35 and DFF45 with caspase-activated DNA fragmentation nuclease DFF40. (PMID: 10409614) Gu J … Schlossman SF (The Journal of biological chemistry 1999) 3 4 22 58
  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 58
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  5. DFF45 expression in ovarian endometriomas. (PMID: 19535198) Banas T … Basta A (European journal of obstetrics, gynecology, and reproductive biology 2009) 3 22 58

Products for DFFA Gene

Sources for DFFA Gene

Loading form....