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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNASE2B Gene

protein-coding   GIFtS: 49
GCID: GC01P084864

deoxyribonuclease II beta

 Explore 4 diseases affiliated with
DNASE2B via our new
 Human Malady Compendium 
Biological research products
for DNASE2B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Deoxyribonuclease II Beta1 2 3     DNase2-Like Acid DNase2 3
DLAD1 2 3 5     Deoxyribonuclease-2-Beta1
Endonuclease DLAD2 3     Lysosomal DNase II2
DNase II Beta2 3     EC 3.1.22.13
DNase II-Like Acid DNase2 3     

External Ids:    HGNC: 288751   Entrez Gene: 585112   Ensembl: ENSG000001379767   OMIM: 6080575   UniProtKB: Q8WZ793   

Export aliases for DNASE2B gene to outside databases

Previous GC identifers: GC01P084577 GC01P082974


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DNASE2B:
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)

UniProtKB/Swiss-Prot: DNS2B_HUMAN, Q8WZ79
Function: Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the
degradation of nuclear DNA during lens cell differentiation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNASE2B gene promoter:
         STAT5B   Sox5   AML1a   Hand1   NRSF form 2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNASE2B promoter sequence
   Search SABiosciences Chromatin IP Primers for DNASE2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNASE2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p22.3

DNASE2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNASE2B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P084864:  view genomic region     (about GC identifiers)

Start:
84,864,215 bp from pter      End:
84,880,701 bp from pter
Size:
16,487 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DNS2B_HUMAN, Q8WZ79 (See protein sequence)
Recommended Name: Deoxyribonuclease-2-beta precursor  
Size: 361 amino acids; 41713 Da
Subcellular location: Lysosome (Probable)
Sequence caution: Sequence=AAF76893.1; Type=Erroneous initiation;
Secondary accessions: Q5VXD0 Q5VXD1 Q8WZ80 Q9NQW3
Alternative splicing: 2 isoforms:  Q8WZ79-1   Q8WZ79-2   

Explore the universe of human proteins at neXtProt for DNASE2B: NX_Q8WZ79

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WZ79

  • DNASE2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_067056.2  NP_490649.1  

    ENSEMBL proteins: 
     ENSP00000359699   ENSP00000359696  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--


    DNASE2B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DNASE2B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004947 DNase_II

    Graphical View of Domain Structure for InterPro Entry Q8WZ79

    ProtoNet protein and cluster: Q8WZ79

    1 Blocks protein family: IPB004947 Deoxyribonuclease II

    UniProtKB/Swiss-Prot: DNS2B_HUMAN, Q8WZ79
    Similarity: Belongs to the DNase II family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DNS2B_HUMAN, Q8WZ79
    Function: Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the
    degradation of nuclear DNA during lens cell differentiation
    Catalytic activity: Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products

    Enzyme Number (IUBMB): EC 3.1.22.11

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNASE2B

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004520endodeoxyribonuclease activity ----
    GO:0004531deoxyribonuclease II activity IEA--


    DNASE2B for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DNASE2B:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Dnase2btm1Osa for DNASE2B
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dnase2b):
     homeostasis/metabolism  vision/eye 

    DNASE2B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for DNASE2B):
        Lysosome


    DNASE2B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNASE2B

    1 Interacting protein for DNASE2B (Q8WZ793) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBL1P287493I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006259DNA metabolic process IEA--


    DNASE2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNASE2B
    Search CenterWatch for drugs/clinical trials and news about DNASE2B / DNS2B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNASE2B gene (2 alternative transcripts): 
    NM_021233.2  NM_058248.1  

    Unigene Cluster for DNASE2B:

    Deoxyribonuclease II beta
    Hs.129142  [show with all ESTs]
    Unigene Representative Sequence: NM_021233
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370665(uc001djt.1) ENST00000370662(uc001dju.1 uc009wch.1)


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    Additional cDNA sequence: 

    AF274571.1 AF333389.1 BC065182.1 BC080621.1 BC126136.1 BC126138.1 

    3 DOTS entries:

    DT.40127696  DT.95364740  DT.91933341 

    24/34 AceView cDNA sequences (see all 34):

    CD635711 NM_021233 CD635709 CD635713 NM_058248 CD635695 CD635715 CD635717 
    AF333389 CD365107 BC065182 AA988125 AI694455 BX280577 AW295184 BQ681950 
    AF274571 CD366106 BG761484 AI802154 AI820599 AI420898 BC080621 CD365871 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DNASE2B    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:              -                       -                           
    SP2:                                      -                           
    SP3:                                                                  


    ECgene alternative splicing isoforms for DNASE2B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNASE2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DNASE2B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DNASE2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNASE2B

    SOURCE GeneReport for Unigene cluster: Hs.129142

    UniProtKB/Swiss-Prot: DNS2B_HUMAN, Q8WZ79
    Tissue specificity: Highly expressed in the eye lens and in salivary gland. Detected at lower levels in lung, prostate
    and lymph node. Isoform 2 is lung specific

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DNASE2B gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DNASE2B1 deoxyribonuclease II beta 61.03(n)
    55.77(a)
      424540  NM_001037838.1  NP_001032927.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNASE2B6
    --
    52(a)
    1 ↔ 1
    GL343194.1(9509601-9520906)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5629961 deoxyribonuclease-2-beta-like 55.18(n)
    48.48(a)
      562996  XM_686359.4  XP_691451.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNaseII6
    Deoxyribonuclease II
    28(a)
    possible ortholog
    3R(13845097-13846883)
    worm
    (Caenorhabditis elegans)
    Secernentea nuc-11 Protein NUC-1 45.86(n)
    34.85(a)
      181174  NM_077203.4  NP_509604.1 


    ENSEMBL Gene Tree for DNASE2B (if available)
    TreeFam Gene Tree for DNASE2B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNASE2B gene
    DNASE22  
    1 SIMAP similar gene for DNASE2B using alignment to 3 protein entries:     DNS2B_HUMAN (see all proteins):
    DNASE2

    DNASE2B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/363 NCBI SNPs in DNASE2B are shown (see all 363    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895738321,2
    --84862217(+) GCTGAG/TATTGC 2 -- us2k1 int10--------
    rs12463311,2
    C,F,A,--84862263(+) TCTGTT/GTTTAC 2 -- int1 us2k19Minor allele frequency- G:0.21WA NA CSA EA 369
    rs727147431,2
    C,F,--84862413(+) AAAGTG/ACAGTG 2 -- int1 us2k13Minor allele frequency- A:0.39WA NA EA 358
    rs1823025541,2
    --84862572(+) TGCCCC/TGGCTG 2 -- us2k1 int10--------
    rs1876502011,2
    --84862626(+) CCAAAA/GTTTTG 2 -- us2k1 int10--------
    rs1931490851,2
    --84862679(+) AAAAAA/TCTTTT 2 -- us2k1 int10--------
    rs1836283041,2
    --84862740(+) GGAAGA/GAAATA 2 -- us2k1 int10--------
    rs2008677531,2
    --84862821(+) ATGGA-/TTCCCA 2 -- int1 us2k10--------
    rs120461921,2
    C,F,--84862923(+) GAAAAA/TTATTT 2 -- int1 us2k13Minor allele frequency- T:0.39WA NA EA 358
    rs1154277781,2
    F,--84862954(+) GCTGTG/CAATCT 2 -- us2k1 int11Minor allele frequency- C:0.03NA 120

    HapMap Linkage Disequilibrium report for DNASE2B (84864215 - 84880701 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DNASE2B: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DNASE2B for disorders           About GeneDecksing

    OMIM gene information: 608057    OMIM disorders: --

    4 diseases for DNASE2B:    About MalaCards
    alcohol dependence    cataract    alcoholism    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: DNASE2B (2 documents)

    Export disorders for DNASE2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DNASE2B gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with DNASE2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cloning, genomic structure, localization, and expression of human deoxyribonuclease IIbeta. (PubMed id 11376952)1, 2, 3 Krieser R.J....Eastman A. (2001)
    2. Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase. (PubMed id 11700027)1, 2, 9 Shiokawa D. and Tanuma S. (2001)
    3. Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens. (PubMed id 12944971)1, 2, 9 Nishimoto S....Nagata S. (2003)
    4. A family history of deoxyribonuclease II: surprises from Trichinella spiralis and Burkholderia pseudomallei. (PubMed id 12594037)1, 3 MacLea K.S.... Eastman A. (2003)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Serum ferritin levels are associated with a distinct p henotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PubMed id 22095909)1 Lange C.M....Bochud P.Y. (2012)
    7. DNase 2 is the main DNA-degrading enzyme of the strat um corneum. (PubMed id 21390259)1 Fischer H....Eckhart L. (2011)
    8. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
    9. Genome-Wide Association Study of Alcohol Dependence I mplicates a Region on Chromosome 11. (PubMed id 20201924)1 Edenberg H.J....Foroud T. (2010)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 58511 HGNC: 28875 AceView: DLAD Ensembl:ENSG00000137976 euGenes: HUgn58511
    ECgene: DNASE2B Kegg: 58511 H-InvDB: DNASE2B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNASE2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNASE2B gene:
    Search GeneIP for patents involving DNASE2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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