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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DNASE1L2
deoxyribonuclease 1 like 2
Chromosome 16 · 16p13.3
NCBI Gene: 1775Ensembl: ENSG00000167968.13HGNC: HGNC:2958UniProt: Q92874
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA bindingDNA catabolic processnucleusMALT lymphomabrachydactyly type CGriscelli diseaseuncombable hair syndrome
✦AI Summary

DNASE1L2 is a divalent cation-dependent endonuclease primarily involved in nuclear DNA degradation during epidermal keratinocyte differentiation and corneocyte formation 1. The enzyme is preferentially expressed in the epidermis, with protein abundance in the stratum granulosum correlating with terminal differentiation 1. DNASE1L2 exhibits a distinctive low pH optimum and was evolutionarily acquired in amniotes as an adaptation to terrestrial life 2. Beyond skin homeostasis, DNASE1L2 contributes to innate immune defense by degrading extracellular DNA and suppressing bacterial biofilm formation by Pseudomonas aeruginosa and Staphylococcus aureus 3. The enzyme is actin-resistant compared to DNase1, making it suitable for cystic fibrosis lung disease treatment, where it effectively reduces mucus viscosity enriched with DNA and actin 4. Disease relevance includes downregulation in vesicular hand eczema, suggesting aberrant epidermal differentiation 5, and elevated expression in breast cancer where it promotes epithelial-mesenchymal transition and predicts poor prognosis 6. Additionally, DNASE1L2 shows protective effects against cataract development 7. DNase1L2 cooperates with Trex2 nuclease in cornification-associated DNA breakdown, particularly in oral epithelia 8.

Sources cited
1
DNase1L2 is essential for nuclear DNA degradation during keratinocyte terminal differentiation and corneocyte formation, with expression correlating with epidermal differentiation
PMID: 16902420
2
DNase1L2 originated in amniotes by tandem duplication and exhibits low pH optimum as an adaptation to terrestrial life
PMID: 35725583
3
DNase1L2 is enzymatically active in stratum corneum and suppresses biofilm formation by Pseudomonas aeruginosa and Staphylococcus aureus
PMID: 17459041
4
DNase1L2 is resistant to actin inhibition and effectively reduces mucus viscosity in cystic fibrosis models at submicromolar concentrations
PMID: 33802146
5
DNASE1L2 is downregulated in vesicular hand eczema, indicating aberrant epidermal differentiation
PMID: 37857578
6
DNASE1L2 is elevated in breast cancer and promotes epithelial-mesenchymal transition, associated with poor overall survival
PMID: 32343605
7
DNASE1L2 exerts a protective effect against cataract development
PMID: 41407891
8
DNASE1L2 cooperates with Trex2 in DNA degradation during cornification of lingual keratinocytes
PMID: 28928425
Disease Associationsⓘ20
MALT lymphomaOpen Targets
0.07Suggestive
brachydactyly type COpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Meckel's diverticulumOpen Targets
0.05Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
brachydactyly type A1Open Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
gastric carcinomaOpen Targets
0.05Suggestive
gastric adenocarcinoma and proximal polyposis of the stomachOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
multiple epiphyseal dysplasia type 4Open Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.04Suggestive
fibular hemimeliaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNASE1L1Shared pathway100%XRN2Protein interaction95%DXOProtein interaction91%PHF13Protein interaction82%SLC25A21Protein interaction81%TBX20Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
79%
Ovary
69%
Lung
28%
Brain
14%
Heart
0%
Gene Interaction Network
Click a node to explore
DNASE1L2DNASE1L1XRN2DXOPHF13SLC25A21TBX20
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92874
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.33 [1.01–1.75]
RankingsWhere DNASE1L2 stands among ~20K protein-coding genes
  • #13,649of 20,598
    Most Researched22
  • #16,330of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedDNASE1L2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Origin and significance of the human DNase repertoire.
PMID: 35725583
Sci Rep · 2022
1.00
2
Transcriptional differences between vesicular hand eczema and atopic dermatitis.
PMID: 37857578
Contact Dermatitis · 2024
0.90
3
Actin-Resistant DNase1L2 as a Potential Therapeutics for CF Lung Disease.
PMID: 33802146
Biomolecules · 2021
0.80
4
DNase1L2 suppresses biofilm formation by Pseudomonas aeruginosa and Staphylococcus aureus.
PMID: 17459041
Br J Dermatol · 2007
0.70
5
DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal Transition Process.
PMID: 32343605
Cancer Biother Radiopharm · 2021
0.60