U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DNASE1L2 deoxyribonuclease 1 like 2 [ Homo sapiens (human) ]

Gene ID: 1775, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
DNASE1L2provided by HGNC
Official Full Name
deoxyribonuclease 1 like 2provided by HGNC
Primary source
HGNC:HGNC:2958
See related
Ensembl:ENSG00000167968 MIM:602622; AllianceGenome:HGNC:2958
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNAS1L2
Summary
Predicted to enable DNA binding activity and deoxyribonuclease I activity. Predicted to be involved in DNA catabolic process. Predicted to act upstream of or within corneocyte development and hair follicle development. Predicted to be located in cytoplasm and extracellular region. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in skin (RPKM 3.2), brain (RPKM 0.6) and 14 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See DNASE1L2 in Genome Data Viewer
Location:
16p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2236444..2238711)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2258893..2261160)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2286445..2288712)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7035 Neighboring gene Sharpr-MPRA regulatory region 5944 Neighboring gene phosphoglycolate phosphatase Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:2269932-2270556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2275282-2275782 Neighboring gene E4F transcription factor 1 Neighboring gene ECI1 antisense RNA 1 Neighboring gene enoyl-CoA delta isomerase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7039 Neighboring gene uncharacterized LOC107984839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10262 Neighboring gene RNA binding protein with serine rich domain 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal Transition Process. Liu CR, et al. Cancer Biother Radiopharm, 2021 Mar. PMID 32343605
  2. Characterization of the human DNAS1L2 gene and the molecular mechanism for its transcriptional activation induced by inflammatory cytokines. Shiokawa D, et al. Genomics, 2004 Jul. PMID 15203207
  3. Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis. Ueki M, et al. PLoS One, 2017. PMID 28394916, Free PMC Article
  4. DNase1L2 degrades nuclear DNA during corneocyte formation. Fischer H, et al. J Invest Dermatol, 2007 Jan. PMID 16902420
  5. Identification 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. Ueki M, et al. Gene, 2015 Apr 25. PMID 25576224

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal Transition Process.
    Title: DNASE1L2, as a Carcinogenic Marker, Affects the Phenotype of Breast Cancer Cells Via Regulating Epithelial-Mesenchymal Transition Process.
  2. Study surveyed the non-synonymous SNPs of DNASE1L2: 19 SNPs originating from frameshift/nonsense mutations found in DNASE1L2 resulted in loss of function of the enzyme. Thus, the present findings suggest that each of the minor alleles for these SNPs may serve as one of genetic risk factors for parakeratotic skin diseases such as psoriasis, even though they lack a worldwide genetic distribution.
    Title: Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis.
  3. DNASE1L2 is generally well conserved with regard to the non-synonymous single nucleotide polymorphisms, thereby avoiding any marked reduction of the enzyme activity in human populations.
    Title: Identification 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.
  4. Genotyping of 17 SNPs in the human deoxyribonuclease I-like 2 gene was performed using the PCR-RFLP method in three ethnic groups including 14 different populations.
    Title: Five non-synonymous SNPs in the gene encoding human deoxyribonuclease I-like 2 implicated in terminal differentiation of keratinocytes reduce or abolish its activity.
  5. Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated.
    Title: Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
  6. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
  7. Genotyping of all the non-synonymous SNPs of was performed in three ethnic groups including six different populations using the PCR-RFLP method newly developed.
    Title: Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.
  8. Terminal differentiation of nail matrix keratinocytes involves up-regulation of DNas1L2 but is independent of caspase 14.
    Title: Terminal differentiation of nail matrix keratinocytes involves up-regulation of DNase1L2 but is independent of caspase-14 expression.
  9. DNAS1L2 is activated via the NF-kappaB pathway, and an NF-kappaB binding site located within the 5' flanking region is identified as the cis-responsive element
    Title: Characterization of the human DNAS1L2 gene and the molecular mechanism for its transcriptional activation induced by inflammatory cytokines.
  10. DNase1L2 plays an essential role in DNA degradation during terminal differentiation of epidermal KC.
    Title: DNase1L2 degrades nuclear DNA during corneocyte formation.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA nuclease activity TAS
Traceable Author Statement
more info
 PubMed 
enables calcium ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables deoxyribonuclease I activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in corneocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in hair follicle development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
deoxyribonuclease-1-like 2
Names
DNase I homolog protein DHP1
DNase I-like 2
deoxyribonuclease I like 2
NP_001288609.1
NP_001365.1
XP_047289640.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001301680.2 → NP_001288609.1  deoxyribonuclease-1-like 2 precursor

    See identical proteins and their annotated locations for NP_001288609.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC009065, BC035205, BC063710
    Consensus CDS
    CCDS42105.1
    UniProtKB/Swiss-Prot
    E9PBY4, Q6JVM2, Q6JVM3, Q92874
    UniProtKB/TrEMBL
    H3BPU8
    Related
    ENSP00000455358.1, ENST00000567494.5
    Conserved Domains (1) summary
    smart00476
    Location:18 → 296
    DNaseIc; deoxyribonuclease I

  2. NM_001374.3 → NP_001365.1  deoxyribonuclease-1-like 2 precursor

    See identical proteins and their annotated locations for NP_001365.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC009065, BC063710
    Consensus CDS
    CCDS42105.1
    UniProtKB/Swiss-Prot
    E9PBY4, Q6JVM2, Q6JVM3, Q92874
    UniProtKB/TrEMBL
    H3BPU8
    Related
    ENSP00000316938.5, ENST00000320700.10
    Conserved Domains (1) summary
    smart00476
    Location:18 → 296
    DNaseIc; deoxyribonuclease I

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    2236444..2238711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433684.1 → XP_047289640.1  deoxyribonuclease-1-like 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PBY4, Q6JVM2, Q6JVM3, Q92874
    Related
    ENSP00000454562.1, ENST00000564065.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    2258893..2261160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92874.1 GenPept UniProtKB/Swiss-Prot:Q92874

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools