DFFA (DNA fragmentation factor subunit alpha)

2003-05-01  

Identity

HGNC
LOCATION
1p36.22
LOCUSID
ALIAS
DFF-45,DFF1,ICAD
FUSION GENES

Other Information

Locus ID:

NCBI: 1676
MIM: 601882
HGNC: 2772
Ensembl: ENSG00000160049

Variants:

dbSNP: 1676
ClinVar: 1676
TCGA: ENSG00000160049
COSMIC: DFFA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160049ENST00000377036O00273
ENSG00000160049ENST00000377036A0A024R4H5
ENSG00000160049ENST00000377038O00273
ENSG00000160049ENST00000476658K7ERT1

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptosis induced DNA fragmentationREACTOMER-HSA-140342
Activation of DNA fragmentation factorREACTOMER-HSA-211227

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
206879652010MiR-145, a new regulator of the DNA fragmentation factor-45 (DFF45)-mediated apoptotic network.34
146756222003Antiapoptotic regulation by hepatitis C virus core protein through up-regulation of inhibitor of caspase-activated DNase.18
224545132012Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.15
121447882002Solution structure of the DFF-C domain of DFF45/ICAD. A structural basis for the regulation of apoptotic DNA fragmentation.12
118705432002Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.11
164322202006A unique role of the DNA fragmentation factor in maintaining genomic stability.11
290919522017Evaluation of miRNA-196a2 and apoptosis-related target genes: ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer patients: A pilot study.11
121811282002Hypoxia-induced cleavage of caspase-3 and DFF45/ICAD in human failed cardiomyocytes.8
166190422006Apoptotic DNA fragmentation factor maintains chromosome stability in a P53-independent manner.7

Citation

Dessen P

DFFA (DNA fragmentation factor subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40297/dffa