DNASE2B Gene (Protein Coding)

Deoxyribonuclease 2 Beta

GC01P084398
GIFtS:
33
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 gen... See more...

Aliases for DNASE2B Gene

Aliases for DNASE2B Gene

  • Deoxyribonuclease 2 Beta 2 3 5
  • Deoxyribonuclease II Beta 2 3 4
  • DLAD 2 3 4
  • Deoxyribonuclease-2-Beta 3 4
  • DNase II-Like Acid DNase 3 4
  • DNase2-Like Acid DNase 3 4
  • Endonuclease DLAD 3 4
  • DNase II Beta 3 4
  • Lysosomal DNase II 3
  • EC 3.1.22.1 4
  • DNASE2B 5

External Ids for DNASE2B Gene

Previous GeneCards Identifiers for DNASE2B Gene

  • GC01P084577
  • GC01P084864
  • GC01P082974

Summaries for DNASE2B Gene

Entrez Gene Summary for DNASE2B Gene

  • 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]

GeneCards Summary for DNASE2B Gene

DNASE2B (Deoxyribonuclease 2 Beta) is a Protein Coding gene. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include endodeoxyribonuclease activity and deoxyribonuclease II activity. An important paralog of this gene is DNASE2.

UniProtKB/Swiss-Prot Summary for DNASE2B Gene

  • Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation.

Additional gene information for DNASE2B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNASE2B Gene

Genomics for DNASE2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNASE2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNASE2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNASE2B

Top Transcription factor binding sites by QIAGEN in the DNASE2B gene promoter:
  • AML1a
  • E47
  • Hand1
  • NRSF form 2
  • Sox5
  • STAT5B

Genomic Locations for DNASE2B Gene

Genomic Locations for DNASE2B Gene
chr1:84,398,532-84,415,895
(GRCh38/hg38)
Size:
17,364 bases
Orientation:
Plus strand
chr1:84,864,215-84,880,701
(GRCh37/hg19)
Size:
16,487 bases
Orientation:
Plus strand

Genomic View for DNASE2B Gene

Genes around DNASE2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNASE2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNASE2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNASE2B Gene

Proteins for DNASE2B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DNASE2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ79-DNS2B_HUMAN
    Recommended name:
    Deoxyribonuclease-2-beta
    Protein Accession:
    Q8WZ79
    Secondary Accessions:
    • Q5VXD0
    • Q5VXD1
    • Q8WZ80
    • Q9NQW3

    Protein attributes for DNASE2B Gene

    Size:
    361 amino acids
    Molecular mass:
    41713 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF76893.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNASE2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNASE2B Gene

Post-translational modifications for DNASE2B Gene

  • Glycosylation at Asn278, Asn81, Asn103, and Asn119
  • Modification sites at PhosphoSitePlus

Other Protein References for DNASE2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNASE2B Gene

Domains & Families for DNASE2B Gene

Gene Families for DNASE2B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DNASE2B Gene

InterPro:
Blocks:
  • Deoxyribonuclease II
ProtoNet:

Suggested Antigen Peptide Sequences for DNASE2B Gene

GenScript: Design optimal peptide antigens:
  • Deoxyribonuclease II beta (A0AUY7_HUMAN)
  • Endonuclease DLAD (DNS2B_HUMAN)
  • DNASE2B protein (Q66K39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WZ79

UniProtKB/Swiss-Prot:

DNS2B_HUMAN :
  • Belongs to the DNase II family.
Family:
  • Belongs to the DNase II family.
genes like me logo Genes that share domains with DNASE2B: view

Function for DNASE2B Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DNASE2B Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products.; EC=3.1.22.1;.

Enzyme Numbers (IUBMB) for DNASE2B Gene

Phenotypes From GWAS Catalog for DNASE2B Gene

Gene Ontology (GO) - Molecular Function for DNASE2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004520 endodeoxyribonuclease activity IEA --
GO:0004531 deoxyribonuclease II activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DNASE2B: view
genes like me logo Genes that share phenotypes with DNASE2B: view

Animal Models for DNASE2B Gene

MGI Knock Outs for DNASE2B:

Animal Model Products

CRISPR Products

miRNA for DNASE2B Gene

miRTarBase miRNAs that target DNASE2B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNASE2B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNASE2B Gene

Localization for DNASE2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNASE2B Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNASE2B gene
Compartment Confidence
lysosome 4
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for DNASE2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with DNASE2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNASE2B Gene

Pathways & Interactions for DNASE2B Gene

PathCards logo

SuperPathways for DNASE2B Gene

SuperPathway Contained pathways
1 Lysosome
Lysosome
-
genes like me logo Genes that share pathways with DNASE2B: view

Pathways by source for DNASE2B Gene

1 KEGG pathway for DNASE2B Gene

SIGNOR curated interactions for DNASE2B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DNASE2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process IEA --
GO:0006309 apoptotic DNA fragmentation IBA 21873635
genes like me logo Genes that share ontologies with DNASE2B: view

Drugs & Compounds for DNASE2B Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DNASE2B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DNASE2B Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNASE2B

Alternative Splicing Database (ASD) splice patterns (SP) for DNASE2B Gene

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

Relevant External Links for DNASE2B Gene

GeneLoc Exon Structure for
DNASE2B

Expression for DNASE2B Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNASE2B Gene

mRNA expression in normal human tissues for DNASE2B Gene
mRNA expression by GTEx for DNASE2B GenemRNA expression by BioGPS for DNASE2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNASE2B Gene

This gene is overexpressed in Minor Salivary Gland (x10.3), Lung (x4.7), and Muscle - Skeletal (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNASE2B

SOURCE GeneReport for Unigene cluster for DNASE2B Gene:

Hs.129142

mRNA Expression by UniProt/SwissProt for DNASE2B Gene:

Q8WZ79-DNS2B_HUMAN
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.

Evidence on tissue expression from TISSUES for DNASE2B Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with DNASE2B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNASE2B Gene

Orthologs for DNASE2B Gene

This gene was present in the common ancestor of animals.

Orthologs for DNASE2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNASE2B 30 31
  • 99.35 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNASE2B 30 31
  • 88.62 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNASE2B 30 31
  • 86.78 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dnase2b 30 17 31
  • 76.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnase2b 30
  • 75.77 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DNASE2B 31
  • 63 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNASE2B 30
  • 61.86 (n)
DNASE2 31
  • 54 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNASE2B 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnase2b 30
  • 61.09 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC562996 30
  • 55.18 (n)
DNASE2B 31
  • 47 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta DNaseII 30 31
  • 43.76 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003295 30
  • 42.36 (n)
Worm
(Caenorhabditis elegans)
 Secernentea nuc-1 30 31
  • 45.45 (n)
 ManyToMany
crn-6 31
  • 26 (a)
 ManyToMany
crn-7 31
  • 26 (a)
 ManyToMany
Species where no ortholog for DNASE2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DNASE2B Gene

ENSEMBL:
Gene Tree for DNASE2B (if available)
TreeFam:
Gene Tree for DNASE2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNASE2B: view image

Paralogs for DNASE2B Gene

Paralogs for DNASE2B Gene

genes like me logo Genes that share paralogs with DNASE2B: view

Variants for DNASE2B Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNASE2B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs3754274 -. - p.Lys47Argp.Arg51Lys
rs3738573 - p.Gln3His

Additional dbSNP identifiers (rs#s) for DNASE2B Gene

Structural Variations from Database of Genomic Variants (DGV) for DNASE2B Gene

Variant ID Type Subtype PubMed ID
nsv823387 CNV loss 20364138
nsv830437 CNV gain+loss 17160897

Variation tolerance for DNASE2B Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.57; 93.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNASE2B Gene

Human Gene Mutation Database (HGMD)
DNASE2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNASE2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNASE2B Gene

Disorders for DNASE2B Gene

Additional Disease Information for DNASE2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for DNASE2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNASE2B Gene

Publications for DNASE2B Gene

  1. Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens. (PMID: 12944971) Nishimoto S … Nagata S (Nature 2003) 3 4 23
  2. The cloning, genomic structure, localization, and expression of human deoxyribonuclease IIbeta. (PMID: 11376952) Krieser RJ … Eastman A (Gene 2001) 2 3 4
  3. Isolation and characterization of the DLAD/Dlad genes, which lie head-to-head with the genes for urate oxidase. (PMID: 11700027) Shiokawa D … Tanuma SI (Biochemical and biophysical research communications 2001) 3 4 23
  4. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PMID: 22095909) Lange CM … Swiss Hepatitis C Cohort Study Group (Hepatology (Baltimore, Md.) 2012) 3 41
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41

ExternalLinks

View latest publications for DNASE2B gene in Mastermind

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