DFFB (DNA fragmentation factor subunit beta)

2003-02-01  

Identity

HGNC
DFFB
LOCATION
1p36.32
LOCUSID
1677
ALIAS
CAD,CPAN,DFF-40,DFF2,DFF40

Other Information

Locus ID:

NCBI: 1677
MIM: 601883
HGNC: 2773
Ensembl: ENSG00000169598

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169598ENST00000338895B4DZS0
ENSG00000169598ENST00000339350O76075
ENSG00000169598ENST00000341385A0A0B4J1S5
ENSG00000169598ENST00000378206Q96P72
ENSG00000169598ENST00000378209O76075
ENSG00000169598ENST00000461150J3KT26
ENSG00000169598ENST00000468793Q96P73
ENSG00000169598ENST00000475969Q96P73
ENSG00000169598ENST00000477548G3XAD0
ENSG00000169598ENST00000491998O76075
ENSG00000169598ENST00000625756G3XAD0

Expression (GTEx)

0
5
10
15
20
25
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
372157472023MEG3 Regulates CSE-Induced Apoptosis by Regulating miR-421/DFFB Signal Axis.0
372157472023MEG3 Regulates CSE-Induced Apoptosis by Regulating miR-421/DFFB Signal Axis.0
353933992022Spontaneous activity of the mitochondrial apoptosis pathway drives chromosomal defects, the appearance of micronuclei and cancer metastasis through the Caspase-Activated DNAse.8
353933992022Spontaneous activity of the mitochondrial apoptosis pathway drives chromosomal defects, the appearance of micronuclei and cancer metastasis through the Caspase-Activated DNAse.8
333871462021The role of the DFF40/CAD endonuclease in genomic stability.2
340063902021The Nexus of cfDNA and Nuclease Biology.51
346782222021DFF40 deficiency in cancerous T cells is implicated in chemotherapy drug sensitivity and resistance through the regulation of the apoptotic pathway.1
333871462021The role of the DFF40/CAD endonuclease in genomic stability.2
340063902021The Nexus of cfDNA and Nuclease Biology.51
346782222021DFF40 deficiency in cancerous T cells is implicated in chemotherapy drug sensitivity and resistance through the regulation of the apoptotic pathway.1
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
289810922017Executioner caspases and CAD are essential for mutagenesis induced by TRAIL or vincristine.18
289810922017Executioner caspases and CAD are essential for mutagenesis induced by TRAIL or vincristine.18
267550732016An intrinsic DFF40/CAD endonuclease deficiency impairs oligonucleosomal DNA hydrolysis during caspase-dependent cell death: a common trait in human glioblastoma cells.8

Citation

Dessen P

DFFB (DNA fragmentation factor subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40298/css/gene-explorer/meetings/