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    DNASE2B deoxyribonuclease 2 beta [ Homo sapiens (human) ]

    Gene ID: 58511, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See DNASE2B in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_021233.3NP_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:33349
      DNase_II; Deoxyribonuclease II
    2. NM_058248.2NP_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:13152
      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_047426625.1XP_047282581.1  deoxyribonuclease-2-beta isoform X1

      UniProtKB/TrEMBL
      Q66K39
    2. XM_011541878.3XP_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:13152
      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_054337999.1XP_054193974.1  deoxyribonuclease-2-beta isoform X1

      UniProtKB/TrEMBL
      Q66K39
    2. XM_054338000.1XP_054193975.1  deoxyribonuclease-2-beta isoform X2