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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DNASE1L3
deoxyribonuclease 1L3
Chromosome 3 Β· 3p14.3
NCBI Gene: 1776Ensembl: ENSG00000163687.15HGNC: HGNC:2959UniProt: Q13609
55PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumprotein bindingnucleusapoptotic DNA fragmentationautosomal systemic lupus erythematosus type 16systemic lupus erythematosusAutosomal recessive systemic lupus erythematosussystemic scleroderma
✦AI Summary

DNASE1L3 is a deoxyribonuclease that catalyzes internucleosomal DNA fragmentation during apoptosis and necrosis by cleaving both single- and double-stranded DNA to produce 3'-OH ends 1. Beyond apoptosis, DNASE1L3 plays critical roles in immune homeostasis: it degrades neutrophil extracellular traps (NETs) alongside DNASE1, preventing pathological clot formation and organ damage during inflammation 2. DNASE1L3 also suppresses anti-DNA autoimmunity by degrading DNA within apoptotic microparticles 1. Loss-of-function mutations cause systemic lupus erythematosus (SLE), characterized by rapid anti-dsDNA antibody responses through type I interferon-dependent extrafollicular B cell differentiation 3. DNASE1L3 deficiency is recognized as a monogenic form of lupus, highlighting its central role in self-antigen clearance 4. Beyond autoimmunity, emerging evidence demonstrates DNASE1L3's role in cancer immunotherapy: dendritic cell-expressed DNASE1L3 degrades tumor-associated NETs, promoting CD8+ T cell infiltration and enhancing anti-PD-(L)1 efficacy 5. Additionally, DNASE1L3 facilitates PANoptosis in hepatocellular carcinoma treated with tyrosine kinase inhibitors, augmenting anti-tumor immunity 6. Clinically, DNASE1L3 represents a promising biomarker for predicting immunotherapy response and disease outcomes 7.

Sources cited
1
DNASE1L3 cleaves nucleosomal DNA and is active on chromatin in apoptotic cell-derived microparticles, suppressing anti-DNA autoimmunity
PMID: 27293190
2
DNASE1L3 and DNASE1 degrade NETs; loss of DNase activity leads to NET accumulation and atherosclerosis progression
PMID: 41031413
3
DNASE1L3-deficient mice develop SLE-like disease with anti-dsDNA responses via type I interferon-dependent extrafollicular B cell differentiation
PMID: 32454024
4
DNASE1L3 mutations cause monogenic lupus through impaired clearance of self-antigen
PMID: 27812953
5
Dendritic cell-expressed DNASE1L3 degrades tumor NETs, promoting CD8+ T cell infiltration and enhancing anti-PD-(L)1 efficacy in cancer
PMID: 40816293
6
DNASE1L3 facilitates PANoptosis in hepatocellular carcinoma and serves as a biomarker for combination TKI-immunotherapy response
PMID: 39479454
7
DNASE1L3 shapes circulating tumor DNA levels and representation in Hodgkin lymphoma, enabling noninvasive molecular profiling
PMID: 38081297
8
DNASE1L3 is identified as a key functional autoantigen target in SLE pathogenesis
PMID: 36695053
Disease Associationsβ“˜21
autosomal systemic lupus erythematosus type 16Open Targets
0.72Strong
systemic lupus erythematosusOpen Targets
0.64Moderate
Autosomal recessive systemic lupus erythematosusOpen Targets
0.60Moderate
systemic sclerodermaOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
rheumatoid arthritisOpen Targets
0.35Weak
autoimmune diseaseOpen Targets
0.35Weak
limited sclerodermaOpen Targets
0.35Weak
autoimmune thyroid diseaseOpen Targets
0.33Weak
myositisOpen Targets
0.33Weak
obesityOpen Targets
0.33Weak
tooth diseaseOpen Targets
0.32Weak
deficiency anemiaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
Loss of consciousnessOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
lupus nephritisOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Systemic lupus erythematosus 16UniProt
Pathogenic Variants18
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)Pathogenic
Autosomal systemic lupus erythematosus type 16|not provided|DNASE1L3-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 97
NM_004944.4(DNASE1L3):c.317del (p.Tyr106fs)Pathogenic
not provided|Autosomal systemic lupus erythematosus type 16
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_004944.4(DNASE1L3):c.441dup (p.Asp148fs)Pathogenic
not provided|Autosomal systemic lupus erythematosus type 16
β˜…β˜…β˜†β˜†2024β†’ Residue 148
NM_004944.4(DNASE1L3):c.159_172del (p.Ile54fs)Pathogenic
Autosomal systemic lupus erythematosus type 16|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 54
NM_004944.4(DNASE1L3):c.643del (p.Trp215fs)Pathogenic
Autosomal systemic lupus erythematosus type 16|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 215
NM_004944.4(DNASE1L3):c.320+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_004944.4(DNASE1L3):c.97G>T (p.Glu33Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 33
NM_004944.4(DNASE1L3):c.566A>G (p.Asp189Gly)Likely pathogenic
Autosomal systemic lupus erythematosus type 16
β˜…β˜†β˜†β˜†2025β†’ Residue 189
NM_004944.4(DNASE1L3):c.401_402dup (p.Phe135fs)Likely pathogenic
Autosomal systemic lupus erythematosus type 16
β˜…β˜†β˜†β˜†2025β†’ Residue 135
NM_004944.4(DNASE1L3):c.572A>G (p.Asn191Ser)Pathogenic
Autosomal systemic lupus erythematosus type 16
β˜…β˜†β˜†β˜†2024β†’ Residue 191
NM_004944.4(DNASE1L3):c.805del (p.Leu269fs)Likely pathogenic
Autosomal systemic lupus erythematosus type 16
β˜…β˜†β˜†β˜†2024β†’ Residue 269
NM_004944.4(DNASE1L3):c.320+4_320+7delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_004944.4(DNASE1L3):c.596del (p.Lys199fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 199
NM_004944.4(DNASE1L3):c.141+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_004944.4(DNASE1L3):c.142-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter)Likely pathogenic
Autosomal systemic lupus erythematosus type 16
β˜…β˜†β˜†β˜†2021β†’ Residue 179
NM_004944.4(DNASE1L3):c.230+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_004944.4(DNASE1L3):c.495del (p.Ile165fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 165
View on ClinVar β†—
Related Genes
DNASE2Shared pathway60%DNASE1L1Shared pathway50%DNASE1L2Shared pathway50%DNASE2BShared pathway50%TREX2Shared pathway40%DNASE1Shared pathway38%
Tissue Expression6 tissues
Liver
100%
Lung
8%
Heart
5%
Bone Marrow
5%
Ovary
1%
Brain
1%
Gene Interaction Network
Click a node to explore
DNASE1L3DNASE2DNASE1L1DNASE1L2DNASE2BTREX2DNASE1
PROTEIN STRUCTURE
Preparing viewer…
PDB7KIU Β· 2.22 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.59–1.12]
RankingsWhere DNASE1L3 stands among ~20K protein-coding genes
  • #8,193of 20,598
    Most Researched55
  • #2,291of 5,498
    Most Pathogenic Variants18
  • #11,574of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedDNASE1L3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
An update on autoantibodies in systemic lupus erythematosus.
PMID: 36695053
Curr Opin Rheumatol Β· 2023
1.00
2
DNASE1L3-expressing dendritic cells promote CD8
PMID: 40816293
Cancer Cell Β· 2025
0.90
3
The Nexus of cfDNA and Nuclease Biology.
PMID: 34006390
Trends Genet Β· 2021
0.80
4
Distinct Hodgkin lymphoma subtypes defined by noninvasive genomic profiling.
PMID: 38081297
Nature Β· 2024
0.70
5
DNASE1L3-mediated PANoptosis enhances the efficacy of combination therapy for advanced hepatocellular carcinoma.
PMID: 39479454
Theranostics Β· 2024
0.60