Human Gene DFFB (ENST00000378209.8_7) from GENCODE V47lift37

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Description: DNA fragmentation factor subunit beta, transcript variant 8 (from RefSeq NR_135152.2)
Gencode Transcript: ENST00000378209.8_7
Gencode Gene: ENSG00000169598.17_9
Transcript (Including UTRs)
Position: hg19 chr1:3,774,040-3,801,993 Size: 27,954 Total Exon Count: 7 Strand: +
Coding Region
Position: hg19 chr1:3,774,168-3,800,305 Size: 26,138 Coding Exon Count: 7

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:3,774,040-3,801,993)			mRNA (may differ from genome)		Protein (338 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	MGI	OMIM	PubMed	Reactome	UniProtKB
Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: DFFB_HUMAN DESCRIPTION: RecName: Full=DNA fragmentation factor subunit beta; EC=3.-.-.-; AltName: Full=Caspase-activated deoxyribonuclease; Short=CAD; Short=Caspase-activated DNase; AltName: Full=Caspase-activated nuclease; Short=CPAN; AltName: Full=DNA fragmentation factor 40 kDa subunit; Short=DFF-40; FUNCTION: Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology. ENZYME REGULATION: Inhibited by DFFA (DFF45). SUBUNIT: Heterodimer of DFFA and DFFB. Interacts with HIST1H1A. INTERACTION: O00273:DFFA; NbExp=1; IntAct=EBI-1053821, EBI-727171; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. SIMILARITY: Contains 1 CIDE-N domain.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D016604 Aflatoxin B1 C504897 12-(3-adamantan-1-ylureido)dodecanoic acid D015081 2-Naphthylamine C027576 4-hydroxy-2-nonenal D000643 Ammonium Chloride D001151 Arsenic D001564 Benzo(a)pyrene D002117 Calcitriol D003300 Copper D019327 Copper Sulfate D003474 Curcumin D003993 Dibutyl Phthalate D003999 Dichloroacetic Acid D004054 Diethylstilbestrol D005419 Flavonoids D005459 Fluorides D019833 Genistein D007545 Isoproterenol D008070 Lipopolysaccharides C064769 N-acetylsphingosine C558013 NSC 689534 D009538 Nicotine D009569 Nitric Oxide D011794 Quercetin D012402 Rotenone D012822 Silicon Dioxide D018038 Sodium Selenite D013467 Sulindac D013739 Testosterone D017974 Uranium Compounds D014635 Valproic Acid D014747 Vinblastine D015032 Zinc D019345 Zinc Acetate C006632 arsenic trioxide C072553 benzyloxycarbonylleucyl-leucyl-leucine aldehyde C044887 beta-methylcholine C006780 bisphenol A C014347 decitabine C051890 irinotecan C437683 motexafin gadolinium C016340 o,p'-DDT C025589 ochratoxin A C006253 pirinixic acid C038849 roridin A C028268 satratoxin G C017947 sodium arsenite D020122 tert-Butylhydroperoxide

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 8.98 RPKM in Brain - Cerebellum Total median expression: 150.52 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-52.60	128	-0.411	Picture	PostScript	Text
3' UTR	-566.60	1688	-0.336	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR015311 - Apoptosis_DFF40
IPR003508 - CAD

Pfam Domains:
PF02017 - CIDE-N domain
PF09230 - DNA fragmentation factor 40 kDa

SCOP Domains:
48371 - ARM repeat
54277 - CAD & PB1 domains
54060 - His-Me finger endonucleases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1IBX - NMR

ModBase Predicted Comparative 3D Structure on O76075


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD	Ensembl

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0004518 nuclease activity GO:0004536 deoxyribonuclease activity GO:0005515 protein binding GO:0016787 hydrolase activity GO:0019899 enzyme binding GO:0019904 protein domain specific binding GO:0042802 identical protein binding GO:0097718 disordered domain specific binding Biological Process: GO:0006308 DNA catabolic process GO:0006309 apoptotic DNA fragmentation GO:0006915 apoptotic process GO:0030263 apoptotic chromosome condensation GO:0051260 protein homooligomerization Cellular Component: GO:0000790 nuclear chromatin GO:0005622 intracellular GO:0005634 nucleus GO:0005654 nucleoplasm GO:0005730 nucleolus GO:0005737 cytoplasm GO:0005829 cytosol

Descriptions from all associated GenBank mRNAs


	BC048797 - Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase), mRNA (cDNA clone MGC:51917 IMAGE:5204996), complete cds. BC032827 - Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase), mRNA (cDNA clone IMAGE:4820856), complete cds. AB028911 - Homo sapiens DFF40 beta mRNA for DNA fragmentation factor 40 kDa subunit beta, complete cds. AB028912 - Homo sapiens DFF40 gamma mRNA for DNA fragmentation factor 40 kDa subunit gamma, complete cds. AB028913 - Homo sapiens DFF40 delta mRNA for DNA fragmentation factor 40 kDa subunit delta, complete cds. AF064019 - Homo sapiens DNA fragmentation factor 40 kDa subunit (DFF40) mRNA, complete cds. AK027141 - Homo sapiens cDNA: FLJ23488 fis, clone LNG00589, highly similar to AF064019 Homo sapiens DNA fragmentation factor 40 kDa subunit (DFF40) mRNA. AK303065 - Homo sapiens cDNA FLJ50316 complete cds, highly similar to DNA fragmentation factor subunit beta (EC 3.-.-.-). AK290877 - Homo sapiens cDNA FLJ76791 complete cds, highly similar to Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), transcript variant 1, mRNA. JD477590 - Sequence 458614 from Patent EP1572962. AK309316 - Homo sapiens cDNA, FLJ99357. JD203623 - Sequence 184647 from Patent EP1572962. JD056255 - Sequence 37279 from Patent EP1572962. JD195113 - Sequence 176137 from Patent EP1572962. JD136841 - Sequence 117865 from Patent EP1572962. AF409060 - Homo sapiens DNA fragmentation factor B truncated form I (DFFB) mRNA, complete cds, alternatively spliced. AF409061 - Homo sapiens DNA fragmentation factor B truncated form II (DFFB) mRNA, complete cds, alternatively spliced. AF409062 - Homo sapiens DNA fragmentation factor B truncated form III (DFFB) mRNA, complete cds, alternatively spliced. KJ896701 - Synthetic construct Homo sapiens clone ccsbBroadEn_06095 DFFB gene, encodes complete protein. AB013918 - Homo sapiens mRNA for CAD, complete cds. AF039210 - Homo sapiens caspase-activated nuclease mRNA, complete cds. AY438267 - Homo sapiens c-truncated caspase-activated DNase mRNA, complete cds; aberrantly spliced. AY438268 - Homo sapiens c-truncated caspase-activated DNase mRNA, complete cds; aberrantly spliced. JD299069 - Sequence 280093 from Patent EP1572962. JD280607 - Sequence 261631 from Patent EP1572962. JD507789 - Sequence 488813 from Patent EP1572962. JD364357 - Sequence 345381 from Patent EP1572962. JD513924 - Sequence 494948 from Patent EP1572962. JD513925 - Sequence 494949 from Patent EP1572962. JD069743 - Sequence 50767 from Patent EP1572962. JD414835 - Sequence 395859 from Patent EP1572962. JD414840 - Sequence 395864 from Patent EP1572962. JD251849 - Sequence 232873 from Patent EP1572962. JD120572 - Sequence 101596 from Patent EP1572962. JD379687 - Sequence 360711 from Patent EP1572962. JD379688 - Sequence 360712 from Patent EP1572962. JD379690 - Sequence 360714 from Patent EP1572962. JD311821 - Sequence 292845 from Patent EP1572962. JD311822 - Sequence 292846 from Patent EP1572962. JD081619 - Sequence 62643 from Patent EP1572962. JD081618 - Sequence 62642 from Patent EP1572962. JD438367 - Sequence 419391 from Patent EP1572962. JD223659 - Sequence 204683 from Patent EP1572962. JD133766 - Sequence 114790 from Patent EP1572962. JD240979 - Sequence 222003 from Patent EP1572962. JD234567 - Sequence 215591 from Patent EP1572962. JD545744 - Sequence 526768 from Patent EP1572962. JD355717 - Sequence 336741 from Patent EP1572962. JD355958 - Sequence 336982 from Patent EP1572962. JD483266 - Sequence 464290 from Patent EP1572962. JD240899 - Sequence 221923 from Patent EP1572962. JD367253 - Sequence 348277 from Patent EP1572962. JD325954 - Sequence 306978 from Patent EP1572962. JD153342 - Sequence 134366 from Patent EP1572962. JD527726 - Sequence 508750 from Patent EP1572962. JD161705 - Sequence 142729 from Patent EP1572962. JD523542 - Sequence 504566 from Patent EP1572962. JD262073 - Sequence 243097 from Patent EP1572962. JD165226 - Sequence 146250 from Patent EP1572962. JD560950 - Sequence 541974 from Patent EP1572962. JD542913 - Sequence 523937 from Patent EP1572962. JD547760 - Sequence 528784 from Patent EP1572962. JD213062 - Sequence 194086 from Patent EP1572962. JD407504 - Sequence 388528 from Patent EP1572962. JD095289 - Sequence 76313 from Patent EP1572962. JD374566 - Sequence 355590 from Patent EP1572962. JD489243 - Sequence 470267 from Patent EP1572962. JD489244 - Sequence 470268 from Patent EP1572962. JD072220 - Sequence 53244 from Patent EP1572962. JD505144 - Sequence 486168 from Patent EP1572962. JD099343 - Sequence 80367 from Patent EP1572962. JD242577 - Sequence 223601 from Patent EP1572962. JD242576 - Sequence 223600 from Patent EP1572962. JD374853 - Sequence 355877 from Patent EP1572962. JD157399 - Sequence 138423 from Patent EP1572962. JD115949 - Sequence 96973 from Patent EP1572962. JD106917 - Sequence 87941 from Patent EP1572962. JD075193 - Sequence 56217 from Patent EP1572962. JD377503 - Sequence 358527 from Patent EP1572962. JD088199 - Sequence 69223 from Patent EP1572962. JD532121 - Sequence 513145 from Patent EP1572962. JD334502 - Sequence 315526 from Patent EP1572962. JD428181 - Sequence 409205 from Patent EP1572962. JD268667 - Sequence 249691 from Patent EP1572962. JD513119 - Sequence 494143 from Patent EP1572962. JD298698 - Sequence 279722 from Patent EP1572962. JD352875 - Sequence 333899 from Patent EP1572962. JD542205 - Sequence 523229 from Patent EP1572962. JD424818 - Sequence 405842 from Patent EP1572962.

Biochemical and Signaling Pathways


	BioCarta from NCI Cancer Genome Anatomy Project h_setPathway - Granzyme A mediated Apoptosis Pathway h_caspasePathway - Caspase Cascade in Apoptosis h_mitochondriaPathway - Role of Mitochondria in Apoptotic Signaling h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors h_tnfr1Pathway - TNFR1 Signaling Pathway h_fasPathway - FAS signaling pathway ( CD95 ) h_DNAfragmentPathway - Apoptotic DNA fragmentation and tissue homeostasis h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF Reactome (by CSHL, EBI, and GO) Protein O76075 (Reactome details) participates in the following event(s): R-HSA-211193 Homodimerization of DFF40 R-HSA-211207 Cleaved fragments of DFF45 dissociate from DFF40 R-HSA-211224 Association of DFF40 with DFF45 R-HSA-211186 Cleavage of DFF45 (224) by caspase-3 R-HSA-211190 Caspase 3-mediated cleavage of DFF45 (117) R-HSA-211191 Association of DFF with alpha:beta importin R-HSA-211206 Translocation of DFF to the nucleus R-HSA-211239 Association of DFF40 with chromatin R-HSA-211247 Cleavage of DNA by DFF40 R-HSA-211227 Activation of DNA fragmentation factor R-HSA-140342 Apoptosis induced DNA fragmentation R-HSA-75153 Apoptotic execution phase R-HSA-109581 Apoptosis R-HSA-5357801 Programmed Cell Death

Other Names for This Gene


	Alternate Gene Symbols: CAD, DFF2, DFF40, DFFB_HUMAN, ENST00000378209.1, ENST00000378209.2, ENST00000378209.3, ENST00000378209.4, ENST00000378209.5, ENST00000378209.6, ENST00000378209.7, NR_135152, O60521, O76075, Q5SR22, Q9BYI4, Q9BYI5, Q9BYI6, uc318odi.1, uc318odi.2 UCSC ID: ENST00000378209.8_7 RefSeq Accession: NM_004402.4 Protein: O76075 (aka DFFB_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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