DNASE2B
Deoxyribonuclease 2 Beta
Gene Information Card
| Symbol | DNASE2B |
|---|---|
| Full Name | Deoxyribonuclease 2 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 58511 ncbi.nlm.nih.gov/gene/58511 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q8WZ79 |
| OMIM ID | 608172 |
| HGNC ID | 2952 |
| Aliases | DNASE2L, DNL2, DNASE2B |
Description
DNASE2B encodes deoxyribonuclease 2 beta, a lysosomal endonuclease that hydrolyzes DNA under acidic conditions. It is involved in DNA degradation during apoptosis and in the clearance of extracellular DNA. The enzyme is expressed in various tissues and plays a role in immune regulation and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Impaired clearance of apoptotic DNA may contribute to autoimmunity | ClinVar, OMIM |
| Autoimmune lymphoproliferative syndrome | Defective DNA degradation leads to accumulation of self-DNA | ClinVar |
| Cancer (various) | Altered expression may affect tumor microenvironment and immune evasion | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 6.5 | Low expression |
| A549 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced enzymatic activity |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown functional effect |
| c.763_764del (p.Leu255fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein with no nuclease activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • deoxyribonuclease activity | • DNA catabolic process |
| • lysosome | • apoptotic DNA fragmentation |
| • nuclease activity |
Pathways
• Apoptosis
• DNA degradation
• Lysosome
Protein Summary
DNASE2B is a 365-amino acid lysosomal nuclease that cleaves DNA in an acidic environment. It is synthesized as a preproprotein and processed to its active form. The enzyme is critical for degrading DNA from apoptotic cells and pathogens, preventing inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE2B Knockout HEK293 Cell Line | EDJ-KQ13192 | Human | 58511 | 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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