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DNASE2B deoxyribonuclease 2 beta [ Homo sapiens (human) ]

Gene ID: 58511, updated on 21-Apr-2019

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
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

Genomic context

See DNASE2B in Genome Data Viewer
Location:
1p31.1-p22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (84398532..84415895)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84864215..84880691)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 13 Neighboring gene urate oxidase (pseudogene) 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
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

NCBI Reference Sequences (RefSeq)

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_021233.2NP_067056.2  deoxyribonuclease-2-beta isoform 1 precursor

    See identical proteins and their annotated locations for NP_067056.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the full-length transcript and encodes the longer isoform (1), which is more highly expressed in the salivary gland.
    Source sequence(s)
    AF274571, AF333389, BC065182, BC080621
    Consensus CDS
    CCDS44167.1
    UniProtKB/Swiss-Prot
    Q8WZ79
    UniProtKB/TrEMBL
    Q66K39
    Related
    ENSP00000359699.3, ENST00000370665.3
    Conserved Domains (3) summary
    cd09190
    Location:27191
    PLDc_DNaseII_beta_1; Catalytic domain, repeat 1, of Deoxyribonuclease II beta and similar proteins
    cd09192
    Location:221360
    PLDc_DNaseII_beta_2; Catalytic domain, repeat 2, of Deoxyribonuclease II beta and similar proteins
    pfam03265
    Location:31358
    DNase_II; Deoxyribonuclease II
  2. NM_058248.1NP_490649.1  deoxyribonuclease-2-beta isoform 2

    See identical proteins and their annotated locations for NP_490649.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the first two exons present in transcript variant 1. However, it maintains the same reading frame and encodes an isoform (2) which is truncated at the N-terminus compared to isoform 1. Isoform 2 is specifically expressed in the lungs.
    Source sequence(s)
    AF333389
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    84398532..84415895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541878.2XP_011540180.1  deoxyribonuclease-2-beta isoform X1

    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
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