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

Summary

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, endonucleolytic. 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, Apr 2022]
Expression: Broad expression in skin (RPKM 3.2), brain (RPKM 0.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2236444..2238711)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2258893..2261160)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2286445..2288712)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
DNase1L2 plays an essential role in DNA degradation during terminal differentiation of epidermal KC.
Title: DNase1L2 degrades nuclear DNA during corneocyte formation.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U62647 (e-PCR)
- UniSTS:19208

RH47012 (e-PCR)
- UniSTS:73056

RH91723 (e-PCR)
- UniSTS:90605

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

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

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Preferred Names: deoxyribonuclease-1-like 2

Names: DNase I homolog protein DHP1; DNase I-like 2; deoxyribonuclease I like 2

NP_001288609.1

EC 3.1.21.1

NP_001365.1

EC 3.1.21.1

XP_047289640.1

EC 3.1.21.1

NCBI Reference Sequences (RefSeq)

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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)

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
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