Description: Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. RefSeq Summary (NM_001375): 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 (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr19:12,986,025-12,992,335 Size: 6,311 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr19:12,986,804-12,992,189 Size: 5,386 Coding Exon Count: 6
ID:DNS2A_HUMAN DESCRIPTION: RecName: Full=Deoxyribonuclease-2-alpha; EC=3.1.22.1; AltName: Full=Acid DNase; AltName: Full=Deoxyribonuclease II alpha; Short=DNase II alpha; AltName: Full=Lysosomal DNase II; AltName: Full=R31240_2; Flags: Precursor; FUNCTION: Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells. CATALYTIC ACTIVITY: Endonucleolytic cleavage to nucleoside 3'- phosphates and 3'-phosphooligonucleotide end-products. INTERACTION: Q9Y265:RUVBL1; NbExp=1; IntAct=EBI-1051412, EBI-353675; Q9Y230:RUVBL2; NbExp=1; IntAct=EBI-1051412, EBI-352939; SUBCELLULAR LOCATION: Lysosome. PTM: Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect. MISCELLANEOUS: Not required for the generation of the characteristic DNA fragmentation observed in apoptotic cells, but for the degradation of DNA from dying cells (By similarity). SIMILARITY: Belongs to the DNase II family.
Arthritis, Rheumatoid| M Rossol , et al. Annals of the rheumatic diseases 2009 68(9):1498-503, Homozygosity for DNASE2 single nucleotide polymorphisms in the5'-regulatory region is associated with rheumatoid arthritis., Annals of the rheumatic diseases 2009 68(9):1498-503.
[PubMed 18812394]
lupus erythematosus Shin, H. D. et al. 2005, DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients., Journal of human genetics. 2005 ;50(3):107-11.
[PubMed 15723160]
No significant associations with the risk of SLE were detected. However, further analyses of association with the risk of renal disorder among SLE patients revealed several positive associations. One promoter SNP (-1066G>C), +2630T>C (Ser145Ser), +6235G>C and one haplotype showed weak associations with the risk of nephritis among SLE patients.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00115
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000737 DNA catabolic process, endonucleolytic GO:0006259 DNA metabolic process GO:0006308 DNA catabolic process GO:0006309 apoptotic DNA fragmentation GO:0006915 apoptotic process GO:0007275 multicellular organism development GO:0030218 erythrocyte differentiation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
