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UniProtKB - O00115 (DNS2A_HUMAN)

Protein

Deoxyribonuclease-2-alpha

Gene

DNASE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Not required for the generation of the characteristic DNA fragmentation observed in apoptotic cells, but for the degradation of DNA from dying cells.By similarity

Catalytic activityi

Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei295Curated1

GO - Molecular functioni

  • deoxyribonuclease II activity Source: GO_Central
  • DNA binding Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, Endonuclease, Hydrolase, Nuclease
Biological processApoptosis

Enzyme and pathway databases

BRENDAi3.1.22.1 2681
ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105612.8
HGNCiHGNC:2960 DNASE2
MIMi126350 gene
neXtProtiNX_O00115

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi19C → A: Loss of activity. 1 Publication1
Mutagenesisi86N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-212; Q-266 and Q-290. 1 Publication1
Mutagenesisi151C → A: Loss of activity. 1 Publication1
Mutagenesisi159C → A: Loss of activity. 1 Publication1
Mutagenesisi212N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-266 and Q-290. 1 Publication1
Mutagenesisi266N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-290. 1 Publication1
Mutagenesisi267C → A: Loss of activity. 1 Publication1
Mutagenesisi290N → Q: Reduced N-glycosylation, complete loss of N-glycosylation; when associated with Q-86; Q-212 and Q-266. 1 Publication1
Mutagenesisi295H → A, K, N, R or S: Loss of activity, but not of DNA-binding. 1 Publication1
Mutagenesisi299C → A: No effect. 1 Publication1
Mutagenesisi308C → A: Loss of activity. 1 Publication1
Mutagenesisi327C → A: Loss of activity. 1 Publication1
Mutagenesisi347C → A: Loss of activity. 1 Publication1

Organism-specific databases

DisGeNETi1777
OpenTargetsiENSG00000105612
PharmGKBiPA27431

Chemistry databases

ChEMBLiCHEMBL1250342

Polymorphism and mutation databases

BioMutaiDNASE2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000000729119 – 360Deoxyribonuclease-2-alphaAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi19 ↔ 159Sequence analysis
Glycosylationi86N-linked (GlcNAc...) asparagine1
Glycosylationi212N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi266N-linked (GlcNAc...) asparagine1
Disulfide bondi267 ↔ 347Sequence analysis
Glycosylationi290N-linked (GlcNAc...) asparagine1
Disulfide bondi308 ↔ 327Sequence analysis

Post-translational modificationi

Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect.4 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO00115
MaxQBiO00115
PaxDbiO00115
PeptideAtlasiO00115
PRIDEiO00115
ProteomicsDBi47717

PTM databases

GlyConnecti1170
iPTMnetiO00115
PhosphoSitePlusiO00115

Expressioni

Gene expression databases

BgeeiENSG00000105612 Expressed in 213 organ(s), highest expression level in pituitary gland
CleanExiHS_DNASE2
ExpressionAtlasiO00115 baseline and differential
GenevisibleiO00115 HS

Organism-specific databases

HPAiHPA066185

Interactioni

Protein-protein interaction databases

BioGridi108116, 10 interactors
IntActiO00115, 1 interactor
STRINGi9606.ENSP00000222219

Chemistry databases

BindingDBiO00115

Structurei

3D structure databases

ProteinModelPortaliO00115
SMRiO00115
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNase II family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3825 Eukaryota
ENOG4111G8U LUCA
GeneTreeiENSGT00390000002634
HOGENOMiHOG000261682
HOVERGENiHBG051387
InParanoidiO00115
KOiK01158
OMAiEHRGGGT
OrthoDBiEOG091G08N7
PhylomeDBiO00115
TreeFamiTF314536

Family and domain databases

InterProiView protein in InterPro
IPR004947 DNase_II
PANTHERiPTHR10858 PTHR10858, 1 hit
PfamiView protein in Pfam
PF03265 DNase_II, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O00115-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:360
Mass (Da):39,581
Last modified:July 15, 1998 - v2
Checksum:iDF1BBFBA8A9676EA
GO
Isoform 2 (identifier: O00115-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     116-170: Missing.

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):33,615
Checksum:i85A0DD26EC28FE2C
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENE5K7ENE5_HUMAN
Deoxyribonuclease-2-alpha
DNASE2
218Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti160 – 171Missing in AAB51172 (PubMed:15057824).CuratedAdd BLAST12

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04887039R → I. Corresponds to variant dbSNP:rs36075196Ensembl.1
Natural variantiVAR_048871204H → R. Corresponds to variant dbSNP:rs16978744Ensembl.1
Natural variantiVAR_012044314R → L. Corresponds to variant dbSNP:rs1061192Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056921116 – 170Missing in isoform 2. 1 PublicationAdd BLAST55

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
CCDSiCCDS12284.1 [O00115-1]
PIRiJE0206
T45071
RefSeqiNP_001366.1, NM_001375.2 [O00115-1]
UniGeneiHs.118243

Genome annotation databases

EnsembliENST00000222219; ENSP00000222219; ENSG00000105612 [O00115-1]
GeneIDi1777
KEGGihsa:1777
UCSCiuc002mvn.2 human [O00115-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS12284.1 [O00115-1]
PIRiJE0206
T45071
RefSeqiNP_001366.1, NM_001375.2 [O00115-1]
UniGeneiHs.118243

3D structure databases

ProteinModelPortaliO00115
SMRiO00115
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108116, 10 interactors
IntActiO00115, 1 interactor
STRINGi9606.ENSP00000222219

Chemistry databases

BindingDBiO00115
ChEMBLiCHEMBL1250342

PTM databases

GlyConnecti1170
iPTMnetiO00115
PhosphoSitePlusiO00115

Polymorphism and mutation databases

BioMutaiDNASE2

Proteomic databases

EPDiO00115
MaxQBiO00115
PaxDbiO00115
PeptideAtlasiO00115
PRIDEiO00115
ProteomicsDBi47717

Protocols and materials databases

DNASUi1777
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222219; ENSP00000222219; ENSG00000105612 [O00115-1]
GeneIDi1777
KEGGihsa:1777
UCSCiuc002mvn.2 human [O00115-1]

Organism-specific databases

CTDi1777
DisGeNETi1777
EuPathDBiHostDB:ENSG00000105612.8
GeneCardsiDNASE2
HGNCiHGNC:2960 DNASE2
HPAiHPA066185
MIMi126350 gene
neXtProtiNX_O00115
OpenTargetsiENSG00000105612
PharmGKBiPA27431
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3825 Eukaryota
ENOG4111G8U LUCA
GeneTreeiENSGT00390000002634
HOGENOMiHOG000261682
HOVERGENiHBG051387
InParanoidiO00115
KOiK01158
OMAiEHRGGGT
OrthoDBiEOG091G08N7
PhylomeDBiO00115
TreeFamiTF314536

Enzyme and pathway databases

BRENDAi3.1.22.1 2681
ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis

Miscellaneous databases

ChiTaRSiDNASE2 human
GenomeRNAii1777
PROiPR:O00115
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105612 Expressed in 213 organ(s), highest expression level in pituitary gland
CleanExiHS_DNASE2
ExpressionAtlasiO00115 baseline and differential
GenevisibleiO00115 HS

Family and domain databases

InterProiView protein in InterPro
IPR004947 DNase_II
PANTHERiPTHR10858 PTHR10858, 1 hit
PfamiView protein in Pfam
PF03265 DNase_II, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDNS2A_HUMAN
AccessioniPrimary (citable) accession number: O00115
Secondary accession number(s): B2RD06, B7Z4K6, O43910
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: November 7, 2018
This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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