Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1777
Gene name Gene Name - the full gene name approved by the HGNC.
Deoxyribonuclease 2, lysosomal
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNASE2
Synonyms (NCBI Gene) Gene synonyms aliases
AIPCS, DNASE2A, DNL, DNL2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
SP1 Activation 12694199
SP3 Activation 12694199
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
126350 2960 ENSG00000105612
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pancytopenia autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency N/A N/A GenCC
Systemic lupus erythematosus systemic lupus erythematosus N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Associate 34807970
Arthritis Rheumatoid Associate 19538721
general anxiety disorder Associate 36344488
Glomerulonephritis Associate 29259162
Hematologic Diseases Associate 29259162
Hereditary Autoinflammatory Diseases Associate 29259162
Joint Diseases Associate 29259162
Obsessive Compulsive Disorder Associate 36344488
Overweight Associate 25527748
Uremia Associate 34807970