DNASE1L2 (deoxyribonuclease 1 like 2)

2014-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
DNAS1L2

Other Information

Locus ID:

NCBI: 1775
MIM: 602622
HGNC: 2958
Ensembl: ENSG00000167968

Variants:

dbSNP: 1775
ClinVar: 1775
TCGA: ENSG00000167968
COSMIC: DNASE1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167968ENST00000320700Q92874
ENSG00000167968ENST00000382437Q92874
ENSG00000167968ENST00000564065Q92874
ENSG00000167968ENST00000567494Q92874
ENSG00000167968ENST00000569184H3BPU8
ENSG00000167968ENST00000613572Q92874

Expression (GTEx)

0
10
20
30
40
50
60
70

References

Pubmed IDYearTitleCitations
169024202007DNase1L2 degrades nuclear DNA during corneocyte formation.19
174904142007Terminal differentiation of nail matrix keratinocytes involves up-regulation of DNase1L2 but is independent of caspase-14 expression.11
152032072004Characterization of the human DNAS1L2 gene and the molecular mechanism for its transcriptional activation induced by inflammatory cytokines.4
205032022010Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.4
231614652013Five non-synonymous SNPs in the gene encoding human deoxyribonuclease I-like 2 implicated in terminal differentiation of keratinocytes reduce or abolish its activity.4
209677672010Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.3
209677672010Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.3
255762242015Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes.2
283949162017Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis.2

Citation

Dessen P

DNASE1L2 (deoxyribonuclease 1 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62574/dnase1l2-(deoxyribonuclease-1-like-2)