This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is repre... See more...

Aliases for DNASE2 Gene

Aliases for DNASE2 Gene

  • Deoxyribonuclease 2, Lysosomal 2 3 5
  • Deoxyribonuclease II, Lysosomal 2 3
  • Deoxyribonuclease II Alpha 3 4
  • Deoxyribonuclease-2-Alpha 3 4
  • Lysosomal DNase II 3 4
  • DNase II Alpha 3 4
  • EC 3.1.22.1 4 51
  • Acid DNase 3 4
  • R31240_2 3 4
  • DNASE2A 3 4
  • DNL2 3 4
  • DNase II, Lysosomal 3
  • DNASE2 5
  • DNL 3

External Ids for DNASE2 Gene

Previous HGNC Symbols for DNASE2 Gene

  • DNL
  • DNL2

Previous GeneCards Identifiers for DNASE2 Gene

  • GC19M013117
  • GC19M013208
  • GC19M012831
  • GC19M012847
  • GC19M012986
  • GC19M012557

Summaries for DNASE2 Gene

Entrez Gene Summary for DNASE2 Gene

  • This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNASE2 Gene

DNASE2 (Deoxyribonuclease 2, Lysosomal) is a Protein Coding gene. Diseases associated with DNASE2 include Calcific Tendinitis and Aicardi-Goutieres Syndrome. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include endodeoxyribonuclease activity and deoxyribonuclease II activity. An important paralog of this gene is DNASE2B.

UniProtKB/Swiss-Prot Summary for DNASE2 Gene

  • Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells.

Additional gene information for DNASE2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNASE2 Gene

Genomics for DNASE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNASE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J012880 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 638.3 -2.0 -2035 7 SP1 HNRNPL CREB1 CTCF ZBTB33 PRDM10 REST ZNF629 LEF1 IKZF1 DNASE2 MAN2B1 CALR KLF1 ZNF490 LYL1 ENSG00000267735 RF00017-2826
GH19J012838 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 27 +42.8 42765 1.4 CREB1 CTCF PRDM10 ZNF629 LARP7 POLR2A PATZ1 REST ZBTB44 NONO MAST1 DNASE2 RTBDN MIR6794 HOOK2 RF00017-2826
GH19J012847 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 27.2 +33.8 33774 1 CREB1 CTCF ZNF629 TFE3 ZNF692 BACH1 JUND LARP7 PRDM1 ZNF143 DNASE2 MIR6794 RTBDN MAST1 HOOK2 RF00017-2826
GH19J012800 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 +79.9 79919 2.9 SP1 HNRNPL GATAD2A ATF7 PRDM10 SIX5 IKZF1 NFKBIZ ZNF692 POLR2A PRDX2 THSD8 lnc-PRDX2-1 lnc-RTBDN-2 TRMT1 ZNF136 DNASE2 ZNF788P CCDC130 ZNF709
GH19J012840 Promoter/Enhancer 1.1 Ensembl ENCODE 27.5 +40.6 40618 2.1 RFX1 IKZF1 JUND MTA2 PKNOX1 PATZ1 REST POLR2A HDAC1 NRF1 DNASE2 MAST1 RTBDN MIR6794 HOOK2 RF00017-2826
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNASE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNASE2

Top Transcription factor binding sites by QIAGEN in the DNASE2 gene promoter:
  • AML1a

Genomic Locations for DNASE2 Gene

Genomic Locations for DNASE2 Gene
chr19:12,875,209-12,881,466
(GRCh38/hg38)
Size:
6,258 bases
Orientation:
Minus strand
chr19:12,986,025-12,992,335
(GRCh37/hg19)
Size:
6,311 bases
Orientation:
Minus strand

Genomic View for DNASE2 Gene

Genes around DNASE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNASE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNASE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNASE2 Gene

Proteins for DNASE2 Gene

  • Protein details for DNASE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00115-DNS2A_HUMAN
    Recommended name:
    Deoxyribonuclease-2-alpha
    Protein Accession:
    O00115
    Secondary Accessions:
    • B2RD06
    • B7Z4K6
    • O43910

    Protein attributes for DNASE2 Gene

    Size:
    360 amino acids
    Molecular mass:
    39581 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Not required for the generation of the characteristic DNA fragmentation observed in apoptotic cells, but for the degradation of DNA from dying cells.

    Alternative splice isoforms for DNASE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNASE2 Gene

Selected DME Specific Peptides for DNASE2 Gene

O00115:
  • VDWFVVYKLP
  • FGDDLYSGWL
  • DHSKWCV
  • QLTYTYP
  • CVGDMNRN

Post-translational modifications for DNASE2 Gene

  • Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect.
  • Glycosylation at Asn86, Asn212, Asn266, and Asn290
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • DNS2A_HUMAN (1170)

Other Protein References for DNASE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for DNASE2

Domains & Families for DNASE2 Gene

Gene Families for DNASE2 Gene

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

Protein Domains for DNASE2 Gene

InterPro:
Blocks:
  • Deoxyribonuclease II
ProtoNet:

Suggested Antigen Peptide Sequences for DNASE2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51996, highly similar to Deoxyribonuclease-2-alpha (EC 3.1.22.1) (B7Z4K6_HUMAN)
  • R31240_2 (DNS2A_HUMAN)
  • Deoxyribonuclease II (Q96TC5_HUMAN)
  • Deoxyribonuclease II (Q9H3R9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00115

UniProtKB/Swiss-Prot:

DNS2A_HUMAN :
  • Belongs to the DNase II family.
Family:
  • Belongs to the DNase II family.
genes like me logo Genes that share domains with DNASE2: view

Function for DNASE2 Gene

Molecular function for DNASE2 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products.; EC=3.1.22.1;.
GENATLAS Biochemistry:
DNase II,lysosomal,acidic,38/40kDa,ubiquitously expressed

Enzyme Numbers (IUBMB) for DNASE2 Gene

Phenotypes From GWAS Catalog for DNASE2 Gene

Gene Ontology (GO) - Molecular Function for DNASE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9714827
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004520 endodeoxyribonuclease activity IEA --
GO:0004531 deoxyribonuclease II activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with DNASE2: view
genes like me logo Genes that share phenotypes with DNASE2: view

Animal Models for DNASE2 Gene

MGI Knock Outs for DNASE2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNASE2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNASE2 Gene

Localization for DNASE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNASE2 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 DNASE2 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DNASE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS,IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with DNASE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNASE2 Gene

Pathways & Interactions for DNASE2 Gene

genes like me logo Genes that share pathways with DNASE2: view

Pathways by source for DNASE2 Gene

Gene Ontology (GO) - Biological Process for DNASE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic IEA --
GO:0006259 DNA metabolic process IEA,TAS 9714827
GO:0006308 DNA catabolic process IEA --
GO:0006309 apoptotic DNA fragmentation IBA 21873635
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with DNASE2: view

No data available for SIGNOR curated interactions for DNASE2 Gene

Drugs & Compounds for DNASE2 Gene

(2) Drugs for DNASE2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DNASE2: view

Transcripts for DNASE2 Gene

mRNA/cDNA for DNASE2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 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 DNASE2

Alternative Splicing Database (ASD) splice patterns (SP) for DNASE2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c
SP1: -
SP2: - - -
SP3:
SP4:

Relevant External Links for DNASE2 Gene

GeneLoc Exon Structure for
DNASE2

Expression for DNASE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNASE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNASE2 Gene

This gene is overexpressed in Amniocyte (15.3) and Vitreous humor (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNASE2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNASE2

SOURCE GeneReport for Unigene cluster for DNASE2 Gene:

Hs.118243

Evidence on tissue expression from TISSUES for DNASE2 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Muscle(4.5)
  • Skin(2.5)
  • Lymph node(2.5)
  • Blood(2.4)
  • Spleen(2.3)
  • Intestine(2.3)
  • Kidney(2.3)
  • Heart(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with DNASE2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNASE2 Gene

Orthologs for DNASE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNASE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNASE2 30 31
  • 99.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNASE2 30 31
  • 80.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNASE2 30 31
  • 79.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dnase2a 30 17 31
  • 78.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnase2 30
  • 77.91 (n)
Oppossum
(Monodelphis domestica)
Mammalia DNASE2 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DNASE2 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnase2 30
  • 54.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii dnase2 30 31
  • 52.61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta DNaseII 31 32
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea crn-7 30 31
  • 43.03 (n)
ManyToMany
F09G8.2 32
  • 34 (a)
K04H4.6a 32
  • 31 (a)
K04H4.6b 32
  • 31 (a)
nuc-1 31
  • 30 (a)
ManyToMany
crn-6 31
  • 27 (a)
ManyToMany
Species where no ortholog for DNASE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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 DNASE2 Gene

ENSEMBL:
Gene Tree for DNASE2 (if available)
TreeFam:
Gene Tree for DNASE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNASE2: view image

Paralogs for DNASE2 Gene

Paralogs for DNASE2 Gene

genes like me logo Genes that share paralogs with DNASE2: view

Variants for DNASE2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNASE2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1061192 - p.Arg314Leu
rs16978744 - p.His204Arg
rs36075196 - p.Arg39Ile

Additional dbSNP identifiers (rs#s) for DNASE2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNASE2 Gene

Variant ID Type Subtype PubMed ID
nsv833754 CNV loss 17160897
nsv953977 CNV deletion 24416366

Variation tolerance for DNASE2 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNASE2 Gene

Human Gene Mutation Database (HGMD)
DNASE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNASE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNASE2 Gene

Disorders for DNASE2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DNASE2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
calcific tendinitis
aicardi-goutieres syndrome
  • aicardi-goutieres syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNASE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DNASE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNASE2 Gene

Publications for DNASE2 Gene

  1. Structural requirements of human DNase II alpha for formation of the active enzyme: the role of the signal peptide, N-glycosylation, and disulphide bridging. (PMID: 12558498) MacLea KS … Eastman A (The Biochemical journal 2003) 3 4 23
  2. Molecular cloning of the cDNA encoding human deoxyribonuclease II. (PMID: 9446563) Yasuda T … Kishi K (The Journal of biological chemistry 1998) 3 4 23
  3. Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis. (PMID: 18812394) Rossol M … Wagner U (Annals of the rheumatic diseases 2009) 3 41
  4. DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients. (PMID: 15723160) Shin HD … Bae SC (Journal of human genetics 2005) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DNASE2 Gene

Sources for DNASE2 Gene