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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 61
  • 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 Vesicle-mediated transport and Lysosome. 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNASE2 Gene

Genomics for DNASE2 Gene

Regulatory Elements for DNASE2 Gene

Enhancers for DNASE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F012880 1.5 FANTOM5 ENCODE 38.3 -1.8 -1828 5.7 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF136 TRMT1 ZNF625 ZNF844 ZNF44 ZNF442 CCDC130 ZNF791 DNASE2 ZNF763
GH19F012865 1.3 Ensembl ENCODE 27.5 +14.5 14468 2.7 HDGF ATF1 MLX SIN3A ARID4B ZNF2 ZNF48 SLC30A9 ZNF121 GLIS2 DNASE2 WDR83OS HOOK2 MIR6794
GH19F012847 1 ENCODE 27.2 +33.8 33814 1.0 ATF1 ARID4B SIN3A ZNF48 ZNF2 ZNF121 CBX5 ZNF143 FOS DEK DNASE2 GC19M012844 MIR6794
GH19F012841 0.9 ENCODE 27.4 +40.4 40364 1.5 HDGF HDAC1 PKNOX1 SREBF2 KLF17 BMI1 ZNF2 ZNF121 ZNF207 CREM DNASE2 GC19M012844 RTBDN
GH19F012835 1.6 FANTOM5 Ensembl ENCODE 10.8 +45.5 45455 1.6 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF263 ZNF791 ZNF564 DNASE2 WDR83OS CCDC130 GCDH MAST1 RTBDN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNASE2 on UCSC Golden Path with GeneCards custom track

Promoters for DNASE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001417972 221 1801 PKNOX1 ZFP64 SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SP3 REST

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

Genomic Location for DNASE2 Gene

Chromosome:
19
Start:
12,875,211 bp from pter
End:
12,881,521 bp from pter
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 Asn 86, Asn 212, Asn 266, and Asn 290
  • Modification sites at PhosphoSitePlus

Other Protein References for DNASE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DNASE2 Gene

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

No data available for Gene Families for DNASE2 Gene

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

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 --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
nucleus 1

Gene Ontology (GO) - Cellular Components for DNASE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with DNASE2: view

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with DNASE2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia DNASE2 34 35
  • 80.9 (n)
cow
(Bos Taurus)
Mammalia DNASE2 34 35
  • 79.3 (n)
mouse
(Mus musculus)
Mammalia Dnase2a 34 16 35
  • 78.81 (n)
rat
(Rattus norvegicus)
Mammalia Dnase2 34
  • 77.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DNASE2 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE2 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnase2 34
  • 54.57 (n)
zebrafish
(Danio rerio)
Actinopterygii dnase2 34 35
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta DNaseII 36 35
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea crn-7 34 35
  • 43.03 (n)
F09G8.2 36
  • 34 (a)
K04H4.6a 36
  • 31 (a)
K04H4.6b 36
  • 31 (a)
nuc-1 35
  • 30 (a)
ManyToMany
crn-6 35
  • 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 Sequence Context AA Info Type
rs10404876 -- 12,876,791(+) CCCAG(C/T)CCTGG intron-variant
rs1061192 -- 12,876,132(-) GAATC(G/T)GAACC reference, missense
rs11085822 -- 12,874,762(+) GGCTC(A/G)GGCAC downstream-variant-500B, reference, synonymous-codon
rs11085823 -- 12,882,441(+) tccac(C/G)ccacc upstream-variant-2KB
rs111468604 -- 12,875,522(+) GAGGA(G/T)CTAGG utr-variant-3-prime

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)

Relevant External Links 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: DISEASES

Disorder Aliases PubMed IDs
calcific tendinitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNASE2

Genetic Association Database (GAD)
DNASE2
Human Genome Epidemiology (HuGE) Navigator
DNASE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNASE2
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 K.S. … Eastman A. (Biochem. J. 2003) 3 4 22 64
  2. Molecular cloning of the cDNA encoding human deoxyribonuclease II. (PMID: 9446563) Yasuda T. … Kishi K. (J. Biol. Chem. 1998) 3 4 22 64
  3. Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis. (PMID: 18812394) Rossol M. … Wagner U. (Ann. Rheum. Dis. 2009) 3 46 64
  4. DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients. (PMID: 15723160) Shin H.D. … Bae S.C. (J. Hum. Genet. 2005) 3 46 64
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64

Products for DNASE2 Gene

Sources for DNASE2 Gene

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