Gene Gene information from NCBI Gene database.
Entrez ID 1777
Gene name Deoxyribonuclease 2, lysosomal
Gene symbol DNASE2
Synonyms (NCBI Gene)
AIPCSDNASE2ADNLDNL2
Chromosome 19
Chromosome location 19p13.13
Summary This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (l
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT045041 hsa-miR-186-5p CLASH 23622248
MIRT036213 hsa-miR-320b CLASH 23622248
MIRT519402 hsa-miR-3675-5p HITS-CLIP 21572407
MIRT519401 hsa-miR-6890-5p HITS-CLIP 21572407
MIRT519400 hsa-miR-4781-3p HITS-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Activation 12694199
SP3 Activation 12694199
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding TAS 9714827
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
GO:0004520 Function DNA endonuclease activity IEA
GO:0004531 Function Deoxyribonuclease II activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126350 2960 ENSG00000105612
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00115
Protein name Deoxyribonuclease-2-alpha (EC 3.1.22.1) (Acid DNase) (Deoxyribonuclease II alpha) (DNase II alpha) (Lysosomal DNase II) (R31240_2)
Protein function Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the clearance of nucleic acids generated through apoptosis, hence preventing autoinflammation (PubMed:29259162, PubMed:31775019). Necessary f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03265 DNase_II 18 347 Deoxyribonuclease II Family
Tissue specificity TISSUE SPECIFICITY: Expressed in monocytes/macrophages (at protein level). {ECO:0000269|PubMed:29259162}.
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Cytosolic DNA-sensing pathway
  Lysosome Vesicle Biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Pathogenic rs1970347303, rs2145921549, rs201030953 RCV002248375
RCV002248376
RCV002248377
★★★★☆
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
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNASE2-related disorder Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Systemic lupus erythematosus Uncertain significance ClinVar
★★☆☆☆
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
Anemia Anemia BEFREE 20706988, 28666955
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 34807970 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 19538721 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 18812394, 23417527, 27116004
★☆☆☆☆
Found in Text Mining only
Autoinflammatory disorder Autoinflammatory Disease GENOMICS_ENGLAND_DG 29259162
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 28362337, 30630736
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis GENOMICS_ENGLAND_DG 29259162
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 29855540, 31464028
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Glomerulonephritis Pubtator 29259162 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis, Membranoproliferative Glomerulonephritis GENOMICS_ENGLAND_DG 29259162
★☆☆☆☆
Found in Text Mining only