DFFA (DNA fragmentation factor subunit alpha)

2003-05-01  

Identity

HGNC
DFFA
LOCATION
1p36.22
LOCUSID
1676
ALIAS
DFF-45,DFF1,ICAD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
289146712018Endometrial Polyps and Benign Endometrial Hyperplasia Have Increased Prevalence of DNA Fragmentation Factors 40 and 45 (DFF40 and DFF45) Together With the Antiapoptotic B-Cell Lymphoma (Bcl-2) Protein Compared With Normal Human Endometria.2
289146712018Endometrial Polyps and Benign Endometrial Hyperplasia Have Increased Prevalence of DNA Fragmentation Factors 40 and 45 (DFF40 and DFF45) Together With the Antiapoptotic B-Cell Lymphoma (Bcl-2) Protein Compared With Normal Human Endometria.2
290919522017Evaluation of miRNA-196a2 and apoptosis-related target genes: ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer patients: A pilot study.20
290919522017Evaluation of miRNA-196a2 and apoptosis-related target genes: ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer patients: A pilot study.20
261061562015Engineered cellular gene-replacement platform for selective and inducible proteolytic profiling.3
261061562015Engineered cellular gene-replacement platform for selective and inducible proteolytic profiling.3
234512802013ICAD deficiency in human colon cancer and predisposition to colon tumorigenesis: linkage to apoptosis resistance and genomic instability.9
242774732013siRNA-mediated knock-down of DFF45 amplifies doxorubicin therapeutic effects in breast cancer cells.2
234512802013ICAD deficiency in human colon cancer and predisposition to colon tumorigenesis: linkage to apoptosis resistance and genomic instability.9
242774732013siRNA-mediated knock-down of DFF45 amplifies doxorubicin therapeutic effects in breast cancer cells.2
223781612012DFF45 expression in human endometrium is associated with menstrual cycle phases and decreases after menopause.2
224545132012Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.23
223781612012DFF45 expression in human endometrium is associated with menstrual cycle phases and decreases after menopause.2
224545132012Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.23
198823532010Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leukemic cells.4

Citation

Dessen P

DFFA (DNA fragmentation factor subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40297/case-report-explorer/case-report-explorer/css/lib/js/lib/popper.js