DNASE1L2 Gene
Deoxyribonuclease 1 Like 2
Gene Information Card
| Symbol | DNASE1L2 |
|---|---|
| Full Name | Deoxyribonuclease 1 Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 1775 ncbi.nlm.nih.gov/gene/1775 |
| Ensembl ID | ENSG00000167965 |
| UniProt ID | Q92874 |
| OMIM ID | 602877 |
| HGNC ID | 2957 |
| Aliases | DNase I-like 2, DNASE1L2, DNL1L, DNase X |
Description
DNASE1L2 encodes a member of the deoxyribonuclease I (DNase I) family. The encoded protein is an endonuclease that cleaves DNA in a calcium- and magnesium-dependent manner, generating 5'-phosphodinucleotide and 5'-phosphooligonucleotide end products. It is primarily expressed in keratinocytes and plays a role in DNA degradation during cornification (terminal differentiation of epidermal cells). It is also involved in apoptosis-associated DNA fragmentation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skin disorders (e.g., psoriasis) | Altered DNASE1L2 expression may impair DNA degradation during keratinocyte differentiation, contributing to abnormal skin scaling. | Expression studies in psoriatic skin show reduced DNASE1L2 levels (PMID: 17632512). |
| Cancer (e.g., breast, lung) | Loss of DNASE1L2 expression may reduce apoptotic DNA fragmentation, promoting tumorigenesis. | Downregulation observed in several cancer types (COSMIC, TCGA). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 8.3 | Medium |
| Cervix | 6.1 | Medium |
| Lung | 2.4 | Low |
| Breast | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression |
| A549 (lung) | 3.1 | Moderate |
| MCF7 (breast) | 1.5 | Low |
| HeLa (cervical) | 5.8 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, reduced protein expression |
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish DNase activity (e.g., catalytic site variants) are predicted to impair DNA fragmentation during cornification and apoptosis.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity (GO:0004519) | • DNA catabolic process (GO:0006308) |
| • apoptotic process (GO:0006915) | • keratinocyte differentiation (GO:0030216) |
| • defense response to bacterium (GO:0042742) |
Pathways
• Apoptosis - DNA fragmentation (Reactome: R-HSA-140342)
• Keratinocyte differentiation (Reactome: R-HSA-6809371)
Protein Summary
DNASE1L2 is a 299-amino acid protein with a signal peptide and a DNase I-like catalytic domain. It functions as a Ca2+/Mg2+-dependent endonuclease that cleaves double-stranded DNA. The protein is secreted and localizes to the extracellular space and nucleus. It is highly expressed in stratified squamous epithelia, particularly skin, where it mediates DNA degradation during terminal differentiation of keratinocytes (cornification). It also contributes to apoptotic DNA fragmentation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE1L2 Knockout HEK293 Cell Line | EDJ-KQ4461 | Human | 1775 | Details Get a Quote |
| DNASE1L2 Knockout HeLa Cell Line | EDJ-KQ27017 | Human | 1775 | Details Get a Quote |
| DNASE1L2 Knockout A-549 Cell Line | EDJ-KQ61574 | Human | 1775 | Details Get a Quote |
| DNASE1L2 Knockout HCT 116 Cell Line | EDJ-KQ70064 | Human | 1775 | Details Get a Quote |
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