UniProtKB - O00115 (DNS2A_HUMAN)
Deoxyribonuclease-2-alpha
DNASE2
Functioni
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.
Miscellaneous
Catalytic activityi
- Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products. EC:3.1.22.1
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 295 | Curated | 1 |
GO - Molecular functioni
- deoxyribonuclease II activity Source: GO_Central
- DNA binding Source: ProtInc
GO - Biological processi
- apoptotic DNA fragmentation Source: GO_Central
- DNA metabolic process Source: ProtInc
- erythrocyte differentiation Source: Ensembl
- regulation of immune response Source: Ensembl
Keywordsi
Molecular function | Developmental protein, Endonuclease, Hydrolase, Nuclease |
Biological process | Apoptosis |
Enzyme and pathway databases
BRENDAi | 3.1.22.1, 2681 |
PathwayCommonsi | O00115 |
Reactomei | R-HSA-432720, Lysosome Vesicle Biogenesis |
SignaLinki | O00115 |
Names & Taxonomyi
Protein namesi | Recommended name: Deoxyribonuclease-2-alpha (EC:3.1.22.1)Alternative name(s): Acid DNase Deoxyribonuclease II alpha Short name: DNase II alpha Lysosomal DNase II R31240_2 |
Gene namesi | Name:DNASE2 Synonyms:DNASE2A, DNL2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2960, DNASE2 |
MIMi | 126350, gene |
neXtProti | NX_O00115 |
VEuPathDBi | HostDB:ENSG00000105612 |
Subcellular locationi
Lysosome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosome Source: ProtInc
Keywords - Cellular componenti
LysosomePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 19 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 86 | N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-212; Q-266 and Q-290. 1 Publication | 1 | |
Mutagenesisi | 151 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 159 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 212 | N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-266 and Q-290. 1 Publication | 1 | |
Mutagenesisi | 266 | N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-290. 1 Publication | 1 | |
Mutagenesisi | 267 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 290 | N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-266. 1 Publication | 1 | |
Mutagenesisi | 295 | H → A, K, N, R or S: Loss of activity, but not of DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 299 | C → A: No effect. 1 Publication | 1 | |
Mutagenesisi | 308 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 327 | C → A: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 347 | C → A: Loss of activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 1777 |
OpenTargetsi | ENSG00000105612 |
PharmGKBi | PA27431 |
Miscellaneous databases
Pharosi | O00115, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1250342 |
Genetic variation databases
BioMutai | DNASE2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000007291 | 19 – 360 | Deoxyribonuclease-2-alphaAdd BLAST | 342 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 19 ↔ 159 | Sequence analysis | ||
Glycosylationi | 86 | N-linked (GlcNAc...) asparagine | 1 | |
Glycosylationi | 212 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Glycosylationi | 266 | N-linked (GlcNAc...) asparagine | 1 | |
Disulfide bondi | 267 ↔ 347 | Sequence analysis | ||
Glycosylationi | 290 | N-linked (GlcNAc...) asparagine | 1 | |
Disulfide bondi | 308 ↔ 327 | Sequence analysis |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | O00115 |
jPOSTi | O00115 |
MassIVEi | O00115 |
MaxQBi | O00115 |
PaxDbi | O00115 |
PeptideAtlasi | O00115 |
PRIDEi | O00115 |
ProteomicsDBi | 47717 [O00115-1] 6606 |
PTM databases
GlyConnecti | 1170, 2 N-Linked glycans (2 sites) |
GlyGeni | O00115, 4 sites, 2 N-linked glycans (2 sites) |
iPTMneti | O00115 |
PhosphoSitePlusi | O00115 |
Expressioni
Gene expression databases
Bgeei | ENSG00000105612, Expressed in pituitary gland and 230 other tissues |
ExpressionAtlasi | O00115, baseline and differential |
Genevisiblei | O00115, HS |
Organism-specific databases
HPAi | ENSG00000105612, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 108116, 22 interactors |
IntActi | O00115, 3 interactors |
STRINGi | 9606.ENSP00000222219 |
Chemistry databases
BindingDBi | O00115 |
Miscellaneous databases
RNActi | O00115, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG3825, Eukaryota |
GeneTreei | ENSGT00390000002634 |
HOGENOMi | CLU_053867_0_1_1 |
InParanoidi | O00115 |
OMAi | ILYNDQK |
PhylomeDBi | O00115 |
TreeFami | TF314536 |
Family and domain databases
InterProi | View protein in InterPro IPR004947, DNase_II |
PANTHERi | PTHR10858, PTHR10858, 1 hit |
Pfami | View protein in Pfam PF03265, DNase_II, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MIPLLLAALL CVPAGALTCY GDSGQPVDWF VVYKLPALRG SGEAAQRGLQ
60 70 80 90 100
YKYLDESSGG WRDGRALINS PEGAVGRSLQ PLYRSNTSQL AFLLYNDQPP
110 120 130 140 150
QPSKAQDSSM RGHTKGVLLL DHDGGFWLVH SVPNFPPPAS SAAYSWPHSA
160 170 180 190 200
CTYGQTLLCV SFPFAQFSKM GKQLTYTYPW VYNYQLEGIF AQEFPDLENV
210 220 230 240 250
VKGHHVSQEP WNSSITLTSQ AGAVFQSFAK FSKFGDDLYS GWLAAALGTN
260 270 280 290 300
LQVQFWHKTV GILPSNCSDI WQVLNVNQIA FPGPAGPSFN STEDHSKWCV
310 320 330 340 350
SPKGPWTCVG DMNRNQGEEQ RGGGTLCAQL PALWKAFQPL VKNYQPCNGM
360
ARKPSRAYKI
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketK7ENE5 | K7ENE5_HUMAN | Deoxyribonuclease II | DNASE2 | 218 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 160 – 171 | Missing in AAB51172 (PubMed:15057824).CuratedAdd BLAST | 12 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048870 | 39 | R → I. Corresponds to variant dbSNP:rs36075196Ensembl. | 1 | |
Natural variantiVAR_048871 | 204 | H → R. Corresponds to variant dbSNP:rs16978744Ensembl. | 1 | |
Natural variantiVAR_012044 | 314 | R → L. Corresponds to variant dbSNP:rs1061192Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056921 | 116 – 170 | Missing in isoform 2. 1 PublicationAdd BLAST | 55 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB008564 Genomic DNA Translation: BAB55598.1 AF060222 mRNA Translation: AAC39852.1 AF045937 mRNA Translation: AAC35751.1 AF047016 mRNA Translation: AAC77366.1 AB004574 mRNA Translation: BAA28623.1 BT007047 mRNA Translation: AAP35696.1 AK297493 mRNA Translation: BAH12592.1 AK315358 mRNA Translation: BAG37753.1 AC020934 Genomic DNA No translation available. AD000092 Genomic DNA Translation: AAB51172.1 CH471106 Genomic DNA Translation: EAW84320.1 BC010419 mRNA Translation: AAH10419.3 BC065209 mRNA Translation: AAH65209.1 |
CCDSi | CCDS12284.1 [O00115-1] |
PIRi | JE0206 T45071 |
RefSeqi | NP_001366.1, NM_001375.2 [O00115-1] |
Genome annotation databases
Ensembli | ENST00000222219.8; ENSP00000222219.2; ENSG00000105612.9 |
GeneIDi | 1777 |
KEGGi | hsa:1777 |
MANE-Selecti | ENST00000222219.8; ENSP00000222219.2; NM_001375.3; NP_001366.1 |
UCSCi | uc002mvn.2, human [O00115-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB008564 Genomic DNA Translation: BAB55598.1 AF060222 mRNA Translation: AAC39852.1 AF045937 mRNA Translation: AAC35751.1 AF047016 mRNA Translation: AAC77366.1 AB004574 mRNA Translation: BAA28623.1 BT007047 mRNA Translation: AAP35696.1 AK297493 mRNA Translation: BAH12592.1 AK315358 mRNA Translation: BAG37753.1 AC020934 Genomic DNA No translation available. AD000092 Genomic DNA Translation: AAB51172.1 CH471106 Genomic DNA Translation: EAW84320.1 BC010419 mRNA Translation: AAH10419.3 BC065209 mRNA Translation: AAH65209.1 |
CCDSi | CCDS12284.1 [O00115-1] |
PIRi | JE0206 T45071 |
RefSeqi | NP_001366.1, NM_001375.2 [O00115-1] |
3D structure databases
AlphaFoldDBi | O00115 |
SMRi | O00115 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108116, 22 interactors |
IntActi | O00115, 3 interactors |
STRINGi | 9606.ENSP00000222219 |
Chemistry databases
BindingDBi | O00115 |
ChEMBLi | CHEMBL1250342 |
PTM databases
GlyConnecti | 1170, 2 N-Linked glycans (2 sites) |
GlyGeni | O00115, 4 sites, 2 N-linked glycans (2 sites) |
iPTMneti | O00115 |
PhosphoSitePlusi | O00115 |
Genetic variation databases
BioMutai | DNASE2 |
Proteomic databases
EPDi | O00115 |
jPOSTi | O00115 |
MassIVEi | O00115 |
MaxQBi | O00115 |
PaxDbi | O00115 |
PeptideAtlasi | O00115 |
PRIDEi | O00115 |
ProteomicsDBi | 47717 [O00115-1] 6606 |
Protocols and materials databases
Antibodypediai | 13408, 224 antibodies from 31 providers |
DNASUi | 1777 |
Genome annotation databases
Ensembli | ENST00000222219.8; ENSP00000222219.2; ENSG00000105612.9 |
GeneIDi | 1777 |
KEGGi | hsa:1777 |
MANE-Selecti | ENST00000222219.8; ENSP00000222219.2; NM_001375.3; NP_001366.1 |
UCSCi | uc002mvn.2, human [O00115-1] |
Organism-specific databases
CTDi | 1777 |
DisGeNETi | 1777 |
GeneCardsi | DNASE2 |
HGNCi | HGNC:2960, DNASE2 |
HPAi | ENSG00000105612, Low tissue specificity |
MIMi | 126350, gene |
neXtProti | NX_O00115 |
OpenTargetsi | ENSG00000105612 |
PharmGKBi | PA27431 |
VEuPathDBi | HostDB:ENSG00000105612 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3825, Eukaryota |
GeneTreei | ENSGT00390000002634 |
HOGENOMi | CLU_053867_0_1_1 |
InParanoidi | O00115 |
OMAi | ILYNDQK |
PhylomeDBi | O00115 |
TreeFami | TF314536 |
Enzyme and pathway databases
BRENDAi | 3.1.22.1, 2681 |
PathwayCommonsi | O00115 |
Reactomei | R-HSA-432720, Lysosome Vesicle Biogenesis |
SignaLinki | O00115 |
Miscellaneous databases
BioGRID-ORCSi | 1777, 36 hits in 1076 CRISPR screens |
ChiTaRSi | DNASE2, human |
GenomeRNAii | 1777 |
Pharosi | O00115, Tbio |
PROi | PR:O00115 |
RNActi | O00115, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105612, Expressed in pituitary gland and 230 other tissues |
ExpressionAtlasi | O00115, baseline and differential |
Genevisiblei | O00115, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004947, DNase_II |
PANTHERi | PTHR10858, PTHR10858, 1 hit |
Pfami | View protein in Pfam PF03265, DNase_II, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DNS2A_HUMAN | |
Accessioni | O00115Primary (citable) accession number: O00115 Secondary accession number(s): B2RD06, B7Z4K6, O43910 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | July 15, 1998 | |
Last modified: | May 25, 2022 | |
This is version 185 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families