Details for: DNASE2

Gene ID: 1777

Symbol: DNASE2

Ensembl ID: ENSG00000105612

Description: deoxyribonuclease 2, lysosomal

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 110.1930
    Cell Significance Index: -17.1400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 60.1238
    Cell Significance Index: -15.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 39.6401
    Cell Significance Index: -18.7200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 37.0345
    Cell Significance Index: -19.0500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.9884
    Cell Significance Index: -18.4800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.8048
    Cell Significance Index: -18.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.1548
    Cell Significance Index: -11.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.1204
    Cell Significance Index: 247.1100
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 1.4689
    Cell Significance Index: 3.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2763
    Cell Significance Index: 138.8300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0525
    Cell Significance Index: 14.3600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.8923
    Cell Significance Index: 13.3700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7254
    Cell Significance Index: 6.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6085
    Cell Significance Index: 28.3700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5908
    Cell Significance Index: 12.8000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5903
    Cell Significance Index: 81.0600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5638
    Cell Significance Index: 29.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5470
    Cell Significance Index: 70.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4701
    Cell Significance Index: 5.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4590
    Cell Significance Index: 82.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4262
    Cell Significance Index: 52.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4238
    Cell Significance Index: 12.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4137
    Cell Significance Index: 225.9400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3281
    Cell Significance Index: 24.4500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3237
    Cell Significance Index: 61.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3189
    Cell Significance Index: 31.5500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.3095
    Cell Significance Index: 5.7200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3043
    Cell Significance Index: 7.0300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2828
    Cell Significance Index: 125.0300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2713
    Cell Significance Index: 7.3900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2098
    Cell Significance Index: 27.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2085
    Cell Significance Index: 9.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1547
    Cell Significance Index: 26.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1381
    Cell Significance Index: 3.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1230
    Cell Significance Index: 14.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1084
    Cell Significance Index: 7.6700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0933
    Cell Significance Index: 2.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0815
    Cell Significance Index: 4.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0555
    Cell Significance Index: 1.4600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0414
    Cell Significance Index: 0.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0356
    Cell Significance Index: 7.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0268
    Cell Significance Index: 1.2200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0221
    Cell Significance Index: 20.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0204
    Cell Significance Index: 15.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0117
    Cell Significance Index: 1.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0082
    Cell Significance Index: 2.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0045
    Cell Significance Index: 3.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0043
    Cell Significance Index: 0.8600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0020
    Cell Significance Index: 0.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0013
    Cell Significance Index: -0.9600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0038
    Cell Significance Index: -7.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0046
    Cell Significance Index: -2.8500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0127
    Cell Significance Index: -23.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0133
    Cell Significance Index: -20.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0172
    Cell Significance Index: -23.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0179
    Cell Significance Index: -10.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0240
    Cell Significance Index: -15.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0340
    Cell Significance Index: -15.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0358
    Cell Significance Index: -7.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0401
    Cell Significance Index: -4.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0454
    Cell Significance Index: -0.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0545
    Cell Significance Index: -15.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0580
    Cell Significance Index: -1.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0691
    Cell Significance Index: -4.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0763
    Cell Significance Index: -11.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0934
    Cell Significance Index: -2.9900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0940
    Cell Significance Index: -1.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1268
    Cell Significance Index: -3.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1328
    Cell Significance Index: -3.3200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1368
    Cell Significance Index: -15.6200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1448
    Cell Significance Index: -0.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1784
    Cell Significance Index: -18.5800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1871
    Cell Significance Index: -3.9900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1888
    Cell Significance Index: -9.5400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2037
    Cell Significance Index: -8.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2166
    Cell Significance Index: -13.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2207
    Cell Significance Index: -17.4800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.2346
    Cell Significance Index: -3.6300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2394
    Cell Significance Index: -4.2300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2407
    Cell Significance Index: -18.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2445
    Cell Significance Index: -15.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2725
    Cell Significance Index: -15.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2812
    Cell Significance Index: -18.9100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2920
    Cell Significance Index: -7.8100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3123
    Cell Significance Index: -4.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3130
    Cell Significance Index: -19.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3402
    Cell Significance Index: -17.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3422
    Cell Significance Index: -10.0800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3446
    Cell Significance Index: -2.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3545
    Cell Significance Index: -9.5000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3942
    Cell Significance Index: -11.3000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4066
    Cell Significance Index: -8.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4130
    Cell Significance Index: -14.3500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4232
    Cell Significance Index: -8.2600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4319
    Cell Significance Index: -15.8600
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.4374
    Cell Significance Index: -2.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4750
    Cell Significance Index: -10.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4786
    Cell Significance Index: -16.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4886
    Cell Significance Index: -21.6100
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.4909
    Cell Significance Index: -4.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DNASE2 is a lysosomal enzyme that belongs to the deoxyribonuclease family. It is a 2'5'-exonuclease, which means it has the ability to degrade DNA into smaller fragments. DNASE2 is encoded by a single gene (ENSG00000105612) and is expressed in a wide range of cell types, including immune cells, epithelial cells, and neurons. The protein product of this gene is a 24-kDa polypeptide that is ubiquitously distributed in lysosomes. **Pathways and Functions:** DNASE2 is involved in several cellular pathways, including: 1. **Apoptotic DNA fragmentation**: DNASE2 plays a critical role in the degradation of DNA during apoptosis (programmed cell death). It helps to prevent the accumulation of DNA fragments, which can lead to inflammation and tissue damage. 2. **Lysosomal function**: DNASE2 is essential for maintaining the integrity of lysosomes, which are responsible for cellular digestion and immune response. It helps to regulate the pH and ionic composition of lysosomes, ensuring that they function properly. 3. **Regulation of immune response**: DNASE2 is expressed in immune cells, where it contributes to the regulation of immune responses. It helps to prevent the activation of immune cells and the production of pro-inflammatory cytokines. 4. **Vesicle-mediated transport**: DNASE2 is involved in the regulation of vesicle-mediated transport, which is essential for the movement of molecules within the cell. **Clinical Significance:** Dysregulation of DNASE2 has been implicated in several diseases, including: 1. **Inflammatory disorders**: DNASE2 has been shown to play a critical role in the regulation of inflammatory responses. Its dysregulation has been implicated in diseases such as rheumatoid arthritis, lupus, and multiple sclerosis. 2. **Autoimmune diseases**: DNASE2 has been implicated in autoimmune diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis. Its dysregulation can lead to the activation of immune cells and the production of pro-inflammatory cytokines. 3. **Cancer**: DNASE2 has been shown to play a role in cancer development and progression. Its dysregulation can lead to the accumulation of DNA fragments, which can promote cancer cell growth and survival. In conclusion, DNASE2 is a critical gene that plays a pivotal role in maintaining the integrity of lysosomes and regulating immune responses. Its dysregulation has been implicated in several diseases, including inflammatory disorders, autoimmune diseases, and cancer. Further research is needed to fully understand the mechanisms by which DNASE2 regulates immune responses and to develop therapeutic strategies for the treatment of diseases associated with its dysregulation.

Genular Protein ID: 3998119851

Symbol: DNS2A_HUMAN

Name: Deoxyribonuclease-2-alpha

UniProtKB Accession Codes:

O00115 B2RD06 B7Z4K6 O43910

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 13 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9924608

Title: Structure and organization of the human deoxyribonuclease II (DNase II) gene.

PubMed ID: 9924608

DOI: 10.1046/j.1469-1809.1998.6240299.x

PubMed ID: 9647784

Title: Cloning of cDNAs encoding porcine and human DNase II.

PubMed ID: 9647784

DOI: 10.1006/bbrc.1998.8839

PubMed ID: 9714827

Title: Molecular cloning and characterization of human and murine DNase II.

PubMed ID: 9714827

DOI: 10.1016/s0378-1119(98)00280-7

PubMed ID: 9812984

Title: The cloning and expression of human deoxyribonuclease II. A possible role in apoptosis.

PubMed ID: 9812984

DOI: 10.1074/jbc.273.47.30909

PubMed ID: 9446563

Title: Molecular cloning of the cDNA encoding human deoxyribonuclease II.

PubMed ID: 9446563

DOI: 10.1074/jbc.273.5.2610

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11906178

Title: Revised structure of the active form of human deoxyribonuclease IIalpha.

PubMed ID: 11906178

DOI: 10.1006/bbrc.2002.6687

PubMed ID: 12558498

Title: Structural requirements of human DNase II alpha for formation of the active enzyme: the role of the signal peptide, N-glycosylation, and disulphide bridging.

PubMed ID: 12558498

DOI: 10.1042/bj20021875

PubMed ID: 12594037

Title: A family history of deoxyribonuclease II: surprises from Trichinella spiralis and Burkholderia pseudomallei.

PubMed ID: 12594037

DOI: 10.1016/s0378-1119(02)01233-7

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29259162

Title: Type I interferon-mediated autoinflammation due to DNase II deficiency.

PubMed ID: 29259162

DOI: 10.1038/s41467-017-01932-3

PubMed ID: 31775019

Title: Janus kinase inhibition for autoinflammation in patients with DNASE2 deficiency.

PubMed ID: 31775019

DOI: 10.1016/j.jaci.2019.11.020

Sequence Information:

  • Length: 360
  • Mass: 39581
  • Checksum: DF1BBFBA8A9676EA
  • Sequence:
    • MIPLLLAALL CVPAGALTCY GDSGQPVDWF VVYKLPALRG SGEAAQRGLQ YKYLDESSGG 
WRDGRALINS PEGAVGRSLQ PLYRSNTSQL AFLLYNDQPP QPSKAQDSSM RGHTKGVLLL 
DHDGGFWLVH SVPNFPPPAS SAAYSWPHSA CTYGQTLLCV SFPFAQFSKM GKQLTYTYPW 
VYNYQLEGIF AQEFPDLENV VKGHHVSQEP WNSSITLTSQ AGAVFQSFAK FSKFGDDLYS 
GWLAAALGTN LQVQFWHKTV GILPSNCSDI WQVLNVNQIA FPGPAGPSFN STEDHSKWCV 
SPKGPWTCVG DMNRNQGEEQ RGGGTLCAQL PALWKAFQPL VKNYQPCNGM ARKPSRAYKI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.