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DNASE2B deoxyribonuclease 2 beta [ Homo sapiens (human) ]

Gene ID: 58511, updated on 3-Apr-2024

Summary

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Official Symbol
DNASE2Bprovided by HGNC
Official Full Name
deoxyribonuclease 2 betaprovided by HGNC
Primary source
HGNC:HGNC:28875
See related
Ensembl:ENSG00000137976 MIM:608057; AllianceGenome:HGNC:28875
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DLAD
Summary
The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in salivary gland (RPKM 18.6) and prostate (RPKM 1.5) See more
Orthologs
mouse all
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Genomic context

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Location:
1p31.1-p22.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84398484..84415018)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84238948..84255454)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84864167..84880701)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1018 Neighboring gene sterile alpha motif domain containing 13 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:84830842-84832041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1249 Neighboring gene urate oxidase (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 5400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1250 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:84944610-84945170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1252 Neighboring gene NANOG hESC enhancer GRCh37_chr1:84969365-84969870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1019 Neighboring gene ribosome production factor 1 homolog Neighboring gene G protein subunit gamma 5 Neighboring gene spermatogenesis associated 1 Neighboring gene chitobiase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. DNase 2 is the main DNA-degrading enzyme of the stratum corneum. Fischer H, et al. PLoS One, 2011 Mar 1. PMID 21390259, Free PMC Article
  2. The cloning, genomic structure, localization, and expression of human deoxyribonuclease IIbeta. Krieser RJ, et al. Gene, 2001 May 16. PMID 11376952
  3. Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens. Nishimoto S, et al. Nature, 2003 Aug 28. PMID 12944971
  4. HSF4 regulates DLAD expression and promotes lens de-nucleation. Cui X, et al. Biochim Biophys Acta, 2013 Aug. PMID 23507146
  5. A family history of deoxyribonuclease II: surprises from Trichinella spiralis and Burkholderia pseudomallei. MacLea KS, et al. Gene, 2003 Feb 13. PMID 12594037

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HSF4 exerts its function on lens differentiation via positive regulation of DLAD expression.
    Title: HSF4 regulates DLAD expression and promotes lens de-nucleation.
  2. These data identify DNase 2 as the predominant DNase on the mammalian skin surface and indicate that its activity is primarily targeted to exogenous DNA.
    Title: DNase 2 is the main DNA-degrading enzyme of the stratum corneum.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of alcohol dependence implicates a region on chromosome 11.
  5. gene lie head-to-head with the urate oxidase gene
    Title: Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deoxyribonuclease II activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in apoptotic DNA fragmentation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
deoxyribonuclease-2-beta
Names
DNase II beta
DNase II-like acid DNase
DNase2-like acid DNase
deoxyribonuclease II beta
endonuclease DLAD
lysosomal DNase II
NP_067056.2
NP_490649.1
XP_011540180.1
XP_047282581.1
XP_054193974.1
XP_054193975.1

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)

  1. NM_021233.3 → NP_067056.2  deoxyribonuclease-2-beta isoform 1 precursor

    See identical proteins and their annotated locations for NP_067056.2

    Status: REVIEWED

    Source sequence(s)
    AL359273
    Consensus CDS
    CCDS44167.1
    UniProtKB/Swiss-Prot
    Q5VXD0, Q5VXD1, Q8WZ79, Q8WZ80, Q9NQW3
    UniProtKB/TrEMBL
    A0AUY7
    Related
    ENSP00000359699.3, ENST00000370665.4
    Conserved Domains (1) summary
    pfam03265
    Location:33 → 349
    DNase_II; Deoxyribonuclease II

  2. NM_058248.2 → NP_490649.1  deoxyribonuclease-2-beta isoform 2

    See identical proteins and their annotated locations for NP_490649.1

    Status: REVIEWED

    Source sequence(s)
    AL359273
    Consensus CDS
    CCDS694.1
    UniProtKB/Swiss-Prot
    Q8WZ79
    Related
    ENSP00000359696.3, ENST00000370662.3
    Conserved Domains (1) summary
    cd09192
    Location:13 → 152
    PLDc_DNaseII_beta_2; Catalytic domain, repeat 2, of Deoxyribonuclease II beta and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    84398484..84415018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426625.1 → XP_047282581.1  deoxyribonuclease-2-beta isoform X1

  2. XM_011541878.3 → XP_011540180.1  deoxyribonuclease-2-beta isoform X2

    See identical proteins and their annotated locations for XP_011540180.1

    UniProtKB/Swiss-Prot
    Q8WZ79
    Conserved Domains (1) summary
    cd09192
    Location:13 → 152
    PLDc_DNaseII_beta_2; Catalytic domain, repeat 2, of Deoxyribonuclease II beta and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    84238948..84255454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337999.1 → XP_054193974.1  deoxyribonuclease-2-beta isoform X1

  2. XM_054338000.1 → XP_054193975.1  deoxyribonuclease-2-beta isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WZ79.1 GenPept UniProtKB/Swiss-Prot:Q8WZ79

Gene LinkOut

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