• Gene id: 1677

Gene Summary

• Gene Symbol: DFFB   Gene   UCSC   Ensembl
• Aliases: CAD, CPAN, DFF-40, DFF2, DFF40
• Gene name: DNA fragmentation factor subunit beta
• Alternate names: DNA fragmentation factor subunit beta, DNA fragmentation factor 40 kDa subunit, DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase), caspase-activated DNase, caspase-activated deoxyribonuclease, caspase-activated nuclease,
• Gene location: 1p36.32 (3857266: 3885428)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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 uni
• OMIM: 607861

Protein Summary

• Protein general information: O76075  
  • Name: DNA fragmentation factor subunit beta (EC 3. . . ) (Caspase activated deoxyribonuclease) (CAD) (Caspase activated DNase) (Caspase activated nuclease) (CPAN) (DNA fragmentation factor 40 kDa subunit) (DFF 40)
  • Length: 338  
  • Mass: 39110
• Sequence:

  MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGSRLCLYEDGTELTEDYFPSVPDNAELVLLTLG
  QAWQGYVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQ
  SKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLCTPEGWFS
  CQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLK
  LVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPVRKRQ

• Structural information:
  • Protein Domains: (4..8-)
    (/note="CIDE-N-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00447"-)
  • Interpro: IPR003508  IPR039729  IPR015311  
  • Prosite: PS51135
  • PDB: 1IBX
  • PDBsum: 1IBX
  • STRING: ENSP00000339524
• Other Databases: GeneCards:  DFFB  Malacards:  DFFB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006309	apoptotic DNA fragmentation	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0004536	deoxyribonuclease activity	IBA	molecular function
GO:0006309	apoptotic DNA fragmentation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004536	deoxyribonuclease activity	TAS	molecular function
GO:0006309	apoptotic DNA fragmentation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006309	apoptotic DNA fragmentation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006308	DNA catabolic process	IMP	biological process
GO:0006309	apoptotic DNA fragmentation	IDA	biological process
GO:0004536	deoxyribonuclease activity	IMP	molecular function
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0000790	nuclear chromatin	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030263	apoptotic chromosome condensation	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0006309	apoptotic DNA fragmentation	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0004536	deoxyribonuclease activity	IBA	molecular function
GO:0006309	apoptotic DNA fragmentation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004536	deoxyribonuclease activity	TAS	molecular function
GO:0006309	apoptotic DNA fragmentation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006309	apoptotic DNA fragmentation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006308	DNA catabolic process	IMP	biological process
GO:0006309	apoptotic DNA fragmentation	IDA	biological process
GO:0004536	deoxyribonuclease activity	IMP	molecular function
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0000790	nuclear chromatin	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030263	apoptotic chromosome condensation	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq