DNASE2: Deoxyribonuclease 2, Lysosomal
Key enzyme in DNA degradation during apoptosis and erythropoiesis
Gene Information Card
| Symbol | DNASE2 |
|---|---|
| Full Name | Deoxyribonuclease 2, Lysosomal |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 1777 ncbi.nlm.nih.gov/gene/1777 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | O00115 |
| OMIM ID | 126350 |
| HGNC ID | 2957 |
| Aliases | DNASE2A, DNL2, DNASE2L, DNL1L |
Description
DNASE2 encodes deoxyribonuclease 2, a lysosomal endonuclease that hydrolyzes DNA into oligonucleotides. It is essential for degrading DNA from apoptotic cells and during erythroid maturation. Deficiency leads to accumulation of undigested DNA in macrophages and erythroblasts, causing anemia and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| DNASE2 deficiency (anemia, splenomegaly) | Loss of DNASE2 activity leads to accumulation of DNA in lysosomes of macrophages and erythroblasts, triggering interferon-mediated inflammation and impaired erythropoiesis. | ClinVar, OMIM |
| Systemic lupus erythematosus (SLE) | Reduced DNASE2 activity may impair clearance of apoptotic DNA, promoting autoantibody production. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Bone marrow | 10.1 | Medium |
| Liver | 8.5 | Medium |
| Lung | 6.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HepG2 (liver) | 9.8 | Medium expression |
| A549 (lung) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143G>A (p.Trp48*) | Nonsense | Rare | Loss of function |
| c.307C>T (p.Arg103Cys) | Missense | Rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish or severely reduce DNase2 activity lead to lysosomal DNA accumulation and disease.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endodeoxyribonuclease activity (GO:0004520) | • DNA catabolic process (GO:0006308) |
| • lysosome (GO:0005764) | • apoptotic process (GO:0006915) |
| • erythrocyte differentiation (GO:0030218) |
Pathways
• Apoptosis - DNA degradation (Reactome: R-HSA-211227)
• Clearance of dying cells (Reactome: R-HSA-2024096)
Protein Summary
DNASE2 is a 40 kDa lysosomal endonuclease that cleaves double-stranded DNA into 3'-phosphorylated oligonucleotides. It functions optimally at acidic pH and is critical for degrading nuclear DNA during apoptosis and erythroid enucleation. The protein is synthesized as a preproenzyme and processed into mature form in lysosomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE2 Knockout HEK293 Cell Line | EDJ-KQ3096 | Human | 1777 | Details Get a Quote |
| DNASE2B Knockout HEK293 Cell Line | EDJ-KQ13192 | Human | 58511 | Details Get a Quote |
| DNASE2 Knockout A-549 Cell Line | EDJ-KQ23038 | Human | 1777 | Details Get a Quote |
| DNASE2 Knockout HCT 116 Cell Line | EDJ-KQ24418 | Human | 1777 | Details Get a Quote |
| DNASE2 Knockout HeLa Cell Line | EDJ-KQ24419 | Human | 1777 | Details Get a Quote |
| DNASE2B Knockout HeLa Cell Line | EDJ-KQ56945 | Human | 58511 | Details Get a Quote |
| DNASE2B Knockout A-549 Cell Line | EDJ-KQ65452 | Human | 58511 | Details Get a Quote |
| DNASE2B Knockout HCT 116 Cell Line | EDJ-KQ73888 | Human | 58511 | Details Get a Quote |
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