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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DFFB
DNA fragmentation factor subunit beta
Chromosome 1 · 1p36.32
NCBI Gene: 1677Ensembl: ENSG00000169598.17HGNC: HGNC:2773UniProt: B4DZS0
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmnucleolusprotein bindingplacenta praeviaidiopathic membranous glomerulonephritisMorvan syndromeC1 inhibitor deficiency
✦AI Summary

DFFB (DNA fragmentation factor subunit beta) is a nuclease that executes apoptotic DNA fragmentation and chr1 condensation 1. As a caspase-activated DNase, DFFB cleaves chr1 DNA at specific sites, generating characteristic DNA end motifs detectable in cell-free DNA (cfDNA) 2. DFFB contributes to the fragmentomic landscape of plasma cfDNA, with distinct cleavage patterns that can be identified through analysis of 5' end sequences 2. The enzyme preferentially generates jagged DNA ends on mononucleosomal fragments, though less prominently than DNASE1L3 on multinucleosomal DNA 3. In long cfDNA molecules, DFFB activity is indicated by lower proportions of transcription start site-derived fragments compared to wild-type controls 4. Therapeutically, transgenic DFFB expression under targeted promoters (EGFR or POLA) enables selective elimination of cancer cells and undifferentiated stem cells while sparing healthy cells 56. Clinically, DFFB haploinsufficiency from 1p chr1 loss is associated with oligodendroglioma development, suggesting its role as a tumor suppressor 7. DFFB alterations may serve as biomarkers for systemic lupus erythematosus and other pathological states 12.

Sources cited
1
DFFB affects cfDNA fragmentation patterns and is linked to pathologies including cancer and SLE
PMID: 34006390
2
DFFB generates specific cfDNA end-motif profiles and contributes to plasma and urinary cfDNA fragmentation
PMID: 37075072
3
DFFB deletion affects jagged ends on mononucleosomal cfDNA and deletion correlates with SLE
PMID: 35587043
4
Dffb-deficient mice show altered proportions of long cfDNA molecules from transcription start sites
PMID: 38408788
5
Transgenic DFFB expression selectively eradicates EGFR-overexpressing ovarian cancer cells through nuclear targeting
PMID: 24587967
6
Transgenic DFFB expression causes death of proliferating stem cells while sparing differentiated cells
PMID: 25045589
7
DFFB haploinsufficiency from 1p allelic loss is associated with oligodendroglioma development
PMID: 16156899
Disease Associationsⓘ20
placenta praeviaOpen Targets
0.24Weak
idiopathic membranous glomerulonephritisOpen Targets
0.06Suggestive
Morvan syndromeOpen Targets
0.06Suggestive
C1 inhibitor deficiencyOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
immune system diseaseOpen Targets
0.06Suggestive
type II hypersensitivity reaction diseaseOpen Targets
0.06Suggestive
Hashimoto's thyroiditisOpen Targets
0.05Suggestive
pemphigus vulgarisOpen Targets
0.05Suggestive
Autosomal recessive systemic lupus erythematosusOpen Targets
0.04Suggestive
autosomal systemic lupus erythematosus type 16Open Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
immunodeficiency due to a classical component pathway complement deficiencyOpen Targets
0.04Suggestive
Immunodeficiency due to a complement cascade protein anomalyOpen Targets
0.04Suggestive
response to diisocyanateOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
malignant renal pelvis neoplasmOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
VertigoOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAGOHProtein interaction95%CIDEBProtein interaction93%H1-0Protein interaction93%H1-5Protein interaction91%CIDEAProtein interaction88%ACIN1Protein interaction88%
Tissue Expression6 tissues
Ovary
100%
Liver
75%
Bone Marrow
56%
Lung
50%
Heart
35%
Brain
31%
Gene Interaction Network
Click a node to explore
DFFBMAGOHCIDEBH1-0H1-5CIDEAACIN1
PROTEIN STRUCTURE
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PDB1IBX · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.14]
RankingsWhere DFFB stands among ~20K protein-coding genes
  • #5,933of 20,598
    Most Researched80
  • #11,873of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedDFFB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Nexus of cfDNA and Nuclease Biology.
PMID: 34006390
Trends Genet · 2021
1.00
2
Autophagy restricts mitochondrial DNA damage-induced release of ENDOG (endonuclease G) to regulate genome stability.
PMID: 33465003
Autophagy · 2021
0.90
3
Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs.
PMID: 37075072
Proc Natl Acad Sci U S A · 2023
0.80
4
Eradication of Human Ovarian Cancer Cells by Transgenic Expression of Recombinant
PMID: 24587967
J Genet Syndr Gene Ther · 2013
0.70
5
Jagged Ends on Multinucleosomal Cell-Free DNA Serve as a Biomarker for Nuclease Activity and Systemic Lupus Erythematosus.
PMID: 35587043
Clin Chem · 2022
0.60