Gene Gene information from NCBI Gene database.
Entrez ID 1776
Gene name Deoxyribonuclease 1L3
Gene symbol DNASE1L3
Synonyms (NCBI Gene)
D3DHP2DNAS1L3LSDSLEB16
Chromosome 3
Chromosome location 3p14.3
Summary This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alterna
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1575496354 A>- Pathogenic Frameshift variant, coding sequence variant
rs1575497576 ->T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
46
miRTarBase ID miRNA Experiments Reference
MIRT016727 hsa-miR-335-5p Microarray 18185580
MIRT609493 hsa-miR-6801-3p HITS-CLIP 23824327
MIRT609492 hsa-miR-6810-3p HITS-CLIP 23824327
MIRT609491 hsa-miR-6812-3p HITS-CLIP 23824327
MIRT609490 hsa-miR-1236-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0002283 Process Neutrophil activation involved in immune response IEA
GO:0002283 Process Neutrophil activation involved in immune response ISS 29191910
GO:0002673 Process Regulation of acute inflammatory response IEA
GO:0002673 Process Regulation of acute inflammatory response ISS 29191910
GO:0003677 Function DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602244 2959 ENSG00000163687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13609
Protein name Deoxyribonuclease gamma (DNase gamma) (EC 3.1.21.-) (DNase I homolog protein DHP2) (Deoxyribonuclease I-like 3) (DNase I-like 3) (Liver and spleen DNase) (LS-DNase) (LSD)
Protein function Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:
PDB 7KIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 24 274 Endonuclease/Exonuclease/phosphatase family Domain
Tissue specificity TISSUE SPECIFICITY: Liver and spleen.
Sequence
Sequence length 305
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal systemic lupus erythematosus type 16 Likely pathogenic; Pathogenic rs751206379, rs2107373870, rs1164270727, rs2471306385, rs1575496354, rs1575497576 RCV001526441
RCV001824250
RCV005034492
RCV004584153
RCV000023182
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DNASE1L3-related disorder Likely pathogenic; Pathogenic rs751206379 RCV003416385
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult type dermatomyositis Dermatomyositis BEFREE 28039554
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 31794766
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29560311, 30005328, 30821651
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29560311, 30005328, 30821651
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33173951 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24582314, 30682452
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 31903716 Stimulate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 33035569 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 17406648
★☆☆☆☆
Found in Text Mining only