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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNASE2
deoxyribonuclease 2, lysosomal
Chromosome 19 Β· 19p13.13
NCBI Gene: 1777Ensembl: ENSG00000105612.11HGNC: HGNC:2960UniProt: O00115
58PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
apoptotic cell clearancelysosomeextracellular exosomedeoxyribonuclease II activityautoinflammatory-pancytopenia syndrome due to DNASE2 deficiencysystemic lupus erythematosusBlackfan-Diamond anemiaArthropathy
✦AI Summary

DNASE2 encodes a lysosomal deoxyribonuclease that functions optimally under acidic conditions and preferentially hydrolyzes double-stranded DNA 1. This enzyme plays a crucial role in the clearance of nucleic acids generated during apoptosis, serving as a key mechanism to prevent autoinflammation 1. DNASE2 is essential for proper fetal development and definitive erythropoiesis in fetal liver and bone marrow, where it degrades nuclear DNA expelled from erythroid precursor cells 1. The gene is located on chromosome 19.2-p13.1 2. DNASE2 also serves as a biomarker for differentiated epithelial cells in human meibomian glands, with expression increasing during cellular differentiation 3. Clinically, DNASE2 deficiency causes monogenic lupus, characterized by early-onset systemic lupus erythematosus with features including polyarthritis, erythematous rash, neurological involvement, and developmental delays 4. The enzyme has been investigated for potential therapeutic applications, including targeted cancer therapy through transgenic expression systems 5. Understanding DNASE2 function is critical as its elimination can lead to various diseases, representing an important area of emerging research 1.

Sources cited
1
DNASE2 functions optimally under acidic conditions, prevents autoinflammation through nucleic acid clearance, and is essential for fetal development and erythropoiesis
PMID: 28666955
2
DNASE2 gene is located on chromosome 19p13.2-p13.1
PMID: 9535749
3
DNASE2 serves as a biomarker for differentiated epithelial cells in human meibomian glands
PMID: 30251359
4
DNASE2 deficiency causes monogenic lupus with early-onset systemic features including polyarthritis and neurological involvement
PMID: 37431703
5
DNASE2 has been investigated for potential therapeutic applications in targeted cancer therapy
PMID: 24587967
Disease Associationsβ“˜21
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiencyOpen Targets
0.70Strong
systemic lupus erythematosusOpen Targets
0.11Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
ArthropathyOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
hemoglobin E diseaseOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.05Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.05Suggestive
X-linked sideroblastic anemia 1Open Targets
0.05Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.05Suggestive
acute erythroleukemiaOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
Autoinflammatory-pancytopenia syndromeUniProt
Pathogenic Variants3
NM_001375.3(DNASE2):c.347G>C (p.Gly116Ala)Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
β˜†β˜†β˜†β˜†2022β†’ Residue 116
NM_001375.3(DNASE2):c.362A>T (p.Asp121Val)Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
β˜†β˜†β˜†β˜†2022β†’ Residue 121
NM_001375.3(DNASE2):c.284A>G (p.Tyr95Cys)Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
β˜†β˜†β˜†β˜†2022β†’ Residue 95
View on ClinVar β†—
Related Genes
DFFAProtein interaction80%DNASE2BProtein interaction76%DNASE1L3Shared pathway60%DNASE1Protein interaction60%DFFBProtein interaction56%DNASE1L2Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
81%
Ovary
73%
Heart
71%
Brain
66%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
DNASE2DFFADNASE2BDNASE1L3DNASE1DFFBDNASE1L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O00115
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.63–1.20]
RankingsWhere DNASE2 stands among ~20K protein-coding genes
  • #7,859of 20,598
    Most Researched58
  • #4,047of 5,498
    Most Pathogenic Variants3
  • #12,549of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedDNASE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dnases in health and disease.
PMID: 28666955
Dev Biol Β· 2017
1.00
2
Chromosomal localization of a human deoxyribonuclease II gene (DNASE2) to 19p13.2-p13.1 using both the polymerase chain reaction and fluorescence in situ hybridization analysis.
PMID: 9535749
Biochem Biophys Res Commun Β· 1998
0.90
3
Neutrophil Extracellular Trap Degradation by Differently Polarized Macrophage Subsets.
PMID: 32673525
Arterioscler Thromb Vasc Biol Β· 2020
0.80
4
A young boy with rash, arthritis, and developmental delay: Monogenic lupus due to DNASE2 gene defect.
PMID: 37431703
Int J Rheum Dis Β· 2023
0.70
5
Eradication of Human Ovarian Cancer Cells by Transgenic Expression of Recombinant
PMID: 24587967
J Genet Syndr Gene Ther Β· 2013
0.60