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Aliases for DNASE2 Gene

Aliases for DNASE2 Gene

  • Deoxyribonuclease 2, Lysosomal 2 3 5
  • Deoxyribonuclease II, Lysosomal 2 3
  • Deoxyribonuclease II Alpha 3 4
  • Lysosomal DNase II 3 4
  • DNase II Alpha 3 4
  • EC 3.1.22.1 4 56
  • Acid DNase 3 4
  • R31240_2 3 4
  • DNASE2A 3 4
  • DNL2 3 4
  • Deoxyribonuclease-2-Alpha 3
  • DNase II, Lysosomal 3
  • 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. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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 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 , fRNAdb sequence ontologies and piRNA Summary for DNASE2 Gene

Genomics for DNASE2 Gene

GeneHancer (GH) Regulatory Elements for DNASE2 Gene

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
GH19I012880 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 588.4 -2.0 -2040 6.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B DNASE2 MAN2B1 CALR KLF1 ZNF490 LYL1 ENSG00000267735
GH19I012800 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.4 +80.0 80020 2.8 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B RNASEH2A PRDX2 THSD8 WDR83OS ZNF791 MRI1 ZNF564 CCDC130 ZNF700 DNASE2
GH19I012847 Enhancer 1.2 Ensembl ENCODE 27.2 +33.9 33873 1.1 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZNF121 CBX5 ARID2 ZNF143 FOS DNASE2 MIR6794 GC19M012844 MAST1 HOOK2
GH19I012840 Enhancer 1 Ensembl ENCODE 27.5 +40.5 40532 1.8 HDAC1 HDGF PKNOX1 SIN3A BMI1 ZBTB40 ZNF207 ATF7 CREM KLF13 DNASE2 MAST1 GC19M012844 RTBDN HOOK2
GH19I012918 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.7 -38.3 -38349 2.2 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF207 MIR5695 SYCE2 CCDC130 ZNF136 ZNF44 ZNF564 ZNF20 ZNF700 ZNF763 ZNF791
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNASE2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DNASE2 Gene

Genomic Locations for DNASE2 Gene
chr19:12,875,211-12,881,521
(GRCh38/hg38)
Size:
6,311 bases
Orientation:
Minus strand
chr19:12,986,025-12,992,335
(GRCh37/hg19)

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 posLast=8686, posLast=212212, Asn266, and Asn290
  • Modification sites at PhosphoSitePlus

Other Protein References for DNASE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DNASE2 Gene

Gene Families for DNASE2 Gene

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

Protein Domains for DNASE2 Gene

InterPro:
Blocks:
ProtoNet:

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

GENATLAS Biochemistry:
DNase II,lysosomal,acidic,38/40kDa,ubiquitously expressed
UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage to nucleoside 3-phosphates and 3-phosphooligonucleotide end-products.
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.

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 IBA,IEA --
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

Clone Products

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 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DNASE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005764 lysosome TAS,IEA --
GO:0070062 extracellular exosome HDA,IDA 23376485
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:0006259 DNA metabolic process IEA,TAS 9714827
GO:0006308 DNA catabolic process IEA --
GO:0006309 apoptotic DNA fragmentation IBA --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development 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

Unigene Clusters for DNASE2 Gene

Deoxyribonuclease II, lysosomal:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
DNASE2

Expression for DNASE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DNASE2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNASE2 Gene:

DNASE2

SOURCE GeneReport for Unigene cluster for DNASE2 Gene:

Hs.118243

Evidence on tissue expression from TISSUES for DNASE2 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Muscle(4.2)
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 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia DNASE2 33 34
  • 80.9 (n)
cow
(Bos Taurus)
Mammalia DNASE2 33 34
  • 79.3 (n)
mouse
(Mus musculus)
Mammalia Dnase2a 33 16 34
  • 78.81 (n)
rat
(Rattus norvegicus)
Mammalia Dnase2 33
  • 77.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DNASE2 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE2 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnase2 33
  • 54.57 (n)
zebrafish
(Danio rerio)
Actinopterygii dnase2 33 34
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta DNaseII 35 34
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea crn-7 33 34
  • 43.03 (n)
F09G8.2 35
  • 34 (a)
K04H4.6a 35
  • 31 (a)
K04H4.6b 35
  • 31 (a)
nuc-1 34
  • 30 (a)
ManyToMany
crn-6 34
  • 27 (a)
ManyToMany
Species where no ortholog for DNASE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for DNASE2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000431261 -- 12,883,351(-) A/T upstream_transcript_variant
rs1001303266 -- 12,881,322(-) G/A/T coding_sequence_variant, synonymous_variant
rs1001651198 -- 12,881,076(-) C/T coding_sequence_variant, missense_variant
rs1001779175 -- 12,875,058(-) G/A downstream_transcript_variant
rs1001787344 -- 12,875,333(-) G/C 3_prime_UTR_variant

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

(1) MalaCards diseases for DNASE2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
calcific tendinitis
- 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
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 22 58
  2. Molecular cloning of the cDNA encoding human deoxyribonuclease II. (PMID: 9446563) Yasuda T … Kishi K (The Journal of biological chemistry 1998) 3 4 22 58
  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 44 58
  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 44 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for DNASE2 Gene

Sources for DNASE2 Gene

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