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    DNASE2B deoxyribonuclease 2 beta [ Homo sapiens (human) ]

    Gene ID: 58511, updated on 28-Oct-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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    See DNASE2B in Genome Data Viewer
    Location:
    1p31.1-p22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84398484..84415018)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84238948..84255454)
    RS_2024_09 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 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. The cloning, genomic structure, localization, and expression of human deoxyribonuclease IIbeta. Krieser RJ, et al. Gene, 2001 May 16. PMID 11376952
    2. 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
    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. Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase. Shiokawa D, et al. Biochem Biophys Res Commun, 2001 Nov 16. PMID 11700027
    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 (19) 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_2024_08

    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

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