Identity
HGNC
LOCATION
19p13.13
LOCUSID
ALIAS
DNASE2A,DNL,DNL2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1777
MIM: 126350
HGNC: 2960
Ensembl: ENSG00000105612
Variants:
dbSNP: 1777
ClinVar: 1777
TCGA: ENSG00000105612
COSMIC: DNASE2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000105612 | ENST00000222219 | O00115 |
| ENSG00000105612 | ENST00000222219 | A0A024R7F4 |
| ENSG00000105612 | ENST00000592506 | K7ENE5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31022206 | 2019 | Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity. | 2 |
| 31022206 | 2019 | Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity. | 2 |
| 28743926 | 2017 | Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis. | 20 |
| 29259162 | 2017 | Type I interferon-mediated autoinflammation due to DNase II deficiency. | 96 |
| 28743926 | 2017 | Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis. | 20 |
| 29259162 | 2017 | Type I interferon-mediated autoinflammation due to DNase II deficiency. | 96 |
| 27116004 | 2016 | Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity. | 4 |
| 27116004 | 2016 | Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity. | 4 |
| 24242851 | 2013 | Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction. | 5 |
| 24242851 | 2013 | Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction. | 5 |
| 23019102 | 2012 | Genetic and expression analysis of SNPs in the human deoxyribonuclease II: SNPs in the promoter region reduce its in vivo activity through decreased promoter activity. | 5 |
| 23019102 | 2012 | Genetic and expression analysis of SNPs in the human deoxyribonuclease II: SNPs in the promoter region reduce its in vivo activity through decreased promoter activity. | 5 |
| 18812394 | 2009 | Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis. | 7 |
| 18812394 | 2009 | Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis. | 7 |
| 18812394 | 2009 | Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis. | 7 |
Citation
Dessen P
DNASE2 (deoxyribonuclease 2, lysosomal)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62575/dnase2-(deoxyribonuclease-2-lysosomal)
