DFFA (DNA fragmentation factor subunit alpha)

2003-05-01 Affiliation

Identity

HGNC

DFFA

LOCATION

1p36.22

LOCUSID

1676

ALIAS

DFF-45,DFF1,ICAD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160049	ENST00000377036	O00273
ENSG00000160049	ENST00000377036	A0A024R4H5
ENSG00000160049	ENST00000377038	O00273
ENSG00000160049	ENST00000476658	K7ERT1

Expression (GTEx)

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

Pathway	Source	External ID
Apoptosis	KEGG	ko04210
Apoptosis	KEGG	hsa04210
Programmed Cell Death	REACTOME	R-HSA-5357801
Apoptosis	REACTOME	R-HSA-109581
Apoptotic execution phase	REACTOME	R-HSA-75153
Apoptosis induced DNA fragmentation	REACTOME	R-HSA-140342
Activation of DNA fragmentation factor	REACTOME	R-HSA-211227

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28914671	2018	Endometrial 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
28914671	2018	Endometrial 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
29091952	2017	Evaluation of miRNA-196a2 and apoptosis-related target genes: ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer patients: A pilot study.	20
29091952	2017	Evaluation of miRNA-196a2 and apoptosis-related target genes: ANXA1, DFFA and PDCD4 expression in gastrointestinal cancer patients: A pilot study.	20
26106156	2015	Engineered cellular gene-replacement platform for selective and inducible proteolytic profiling.	3
26106156	2015	Engineered cellular gene-replacement platform for selective and inducible proteolytic profiling.	3
23451280	2013	ICAD deficiency in human colon cancer and predisposition to colon tumorigenesis: linkage to apoptosis resistance and genomic instability.	9
24277473	2013	siRNA-mediated knock-down of DFF45 amplifies doxorubicin therapeutic effects in breast cancer cells.	2
23451280	2013	ICAD deficiency in human colon cancer and predisposition to colon tumorigenesis: linkage to apoptosis resistance and genomic instability.	9
24277473	2013	siRNA-mediated knock-down of DFF45 amplifies doxorubicin therapeutic effects in breast cancer cells.	2
22378161	2012	DFF45 expression in human endometrium is associated with menstrual cycle phases and decreases after menopause.	2
22454513	2012	Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.	23
22378161	2012	DFF45 expression in human endometrium is associated with menstrual cycle phases and decreases after menopause.	2
22454513	2012	Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.	23
19882353	2010	Histone 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/dffa-(dna-fragmentation-factor-subunit-alpha)