DFFB (DNA fragmentation factor subunit beta)

2003-02-01 Affiliation

Identity

HGNC

DFFB

LOCATION

1p36.32

LOCUSID

1677

ALIAS

CAD,CPAN,DFF-40,DFF2,DFF40

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: 1677
MIM: 601883
HGNC: 2773
Ensembl: ENSG00000169598

Variants:

dbSNP: 1677
ClinVar: 1677
TCGA: ENSG00000169598
COSMIC: DFFB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169598	ENST00000338895	B4DZS0
ENSG00000169598	ENST00000339350	O76075
ENSG00000169598	ENST00000341385	A0A0B4J1S5
ENSG00000169598	ENST00000378206	Q96P72
ENSG00000169598	ENST00000378209	O76075
ENSG00000169598	ENST00000461150	J3KT26
ENSG00000169598	ENST00000468793	Q96P73
ENSG00000169598	ENST00000475969	Q96P73
ENSG00000169598	ENST00000477548	G3XAD0
ENSG00000169598	ENST00000491998	O76075
ENSG00000169598	ENST00000625756	G3XAD0

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
16049016	2005	The contribution of apoptosis-inducing factor, caspase-activated DNase, and inhibitor of caspase-activated DNase to the nuclear phenotype and DNA degradation during apoptosis.	20
20855536	2010	Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma.	18
15910001	2005	The histone H1 C-terminal domain binds to the apoptotic nuclease, DNA fragmentation factor (DFF40/CAD) and stimulates DNA cleavage.	17
23229555	2013	Apoptotic DNA fragmentation may be a cooperative activity between caspase-activated deoxyribonuclease and the poly(ADP-ribose) polymerase-regulated DNAS1L3, an endoplasmic reticulum-localized endonuclease that translocates to the nucleus during apoptosis.	15
15569712	2004	Contrasting nuclear dynamics of the caspase-activated DNase (CAD) in dividing and apoptotic cells.	14
16007181	2005	High-frequency Alu-mediated genomic recombination/deletion within the caspase-activated DNase gene in human hepatoma.	12
16121124	2006	Caspase-3 cleavage and nuclear localization of caspase-activated DNase in human temporal lobe epilepsy.	10
12610505	2003	Aberrant caspase-activated DNase (CAD) transcripts in human hepatoma cells.	6
22253444	2012	Apoptotic DNA degradation into oligonucleosomal fragments, but not apoptotic nuclear morphology, relies on a cytosolic pool of DFF40/CAD endonuclease.	6
28981092	2017	Executioner caspases and CAD are essential for mutagenesis induced by TRAIL or vincristine.	6

Citation

Dessen P

DFFB (DNA fragmentation factor subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40298/dffb-(dna-fragmentation-factor-subunit-beta)