Details for: DNA2

Gene ID: 1763

Symbol: DNA2

Ensembl ID: ENSG00000138346

Description: DNA replication helicase/nuclease 2

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: 61.0112
    Cell Significance Index: -9.4900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 44.0776
    Cell Significance Index: -11.1800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.2299
    Cell Significance Index: -11.3800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9270
    Cell Significance Index: -11.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.5124
    Cell Significance Index: -3.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0526
    Cell Significance Index: 104.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7225
    Cell Significance Index: 144.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7183
    Cell Significance Index: 40.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6863
    Cell Significance Index: 136.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5673
    Cell Significance Index: 92.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5114
    Cell Significance Index: 97.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4591
    Cell Significance Index: 12.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4418
    Cell Significance Index: 48.0600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3861
    Cell Significance Index: 8.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3014
    Cell Significance Index: 108.1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2517
    Cell Significance Index: 227.2900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2185
    Cell Significance Index: 13.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.2038
    Cell Significance Index: 29.6300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1846
    Cell Significance Index: 5.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1641
    Cell Significance Index: 12.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1553
    Cell Significance Index: 3.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1354
    Cell Significance Index: 15.9700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1188
    Cell Significance Index: 2.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1058
    Cell Significance Index: 73.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0835
    Cell Significance Index: 4.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0695
    Cell Significance Index: 3.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0684
    Cell Significance Index: 2.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0667
    Cell Significance Index: 7.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0592
    Cell Significance Index: 2.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0559
    Cell Significance Index: 1.1900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0507
    Cell Significance Index: 27.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0494
    Cell Significance Index: 1.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0441
    Cell Significance Index: 1.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0345
    Cell Significance Index: 2.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0341
    Cell Significance Index: 2.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0312
    Cell Significance Index: 2.1000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0239
    Cell Significance Index: 0.4100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0201
    Cell Significance Index: 2.4800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0118
    Cell Significance Index: 5.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0103
    Cell Significance Index: 1.8600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0102
    Cell Significance Index: 19.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0061
    Cell Significance Index: 9.4300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0060
    Cell Significance Index: 0.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0051
    Cell Significance Index: 9.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0046
    Cell Significance Index: 6.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0006
    Cell Significance Index: -0.3600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0019
    Cell Significance Index: -0.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0116
    Cell Significance Index: -5.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0124
    Cell Significance Index: -0.7800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0143
    Cell Significance Index: -10.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0161
    Cell Significance Index: -11.9400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0170
    Cell Significance Index: -12.8700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0226
    Cell Significance Index: -14.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0228
    Cell Significance Index: -0.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0235
    Cell Significance Index: -1.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0239
    Cell Significance Index: -13.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0330
    Cell Significance Index: -9.5000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0393
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0452
    Cell Significance Index: -7.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0468
    Cell Significance Index: -2.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0487
    Cell Significance Index: -6.6900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0539
    Cell Significance Index: -1.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0578
    Cell Significance Index: -2.0100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0590
    Cell Significance Index: -0.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0630
    Cell Significance Index: -8.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0669
    Cell Significance Index: -14.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0810
    Cell Significance Index: -9.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0848
    Cell Significance Index: -8.6600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0887
    Cell Significance Index: -11.4600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0956
    Cell Significance Index: -2.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0975
    Cell Significance Index: -10.1500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1046
    Cell Significance Index: -1.1400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1099
    Cell Significance Index: -2.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1131
    Cell Significance Index: -8.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1155
    Cell Significance Index: -7.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1424
    Cell Significance Index: -11.2800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1503
    Cell Significance Index: -7.8300
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1517
    Cell Significance Index: -0.9000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1521
    Cell Significance Index: -2.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1522
    Cell Significance Index: -11.3400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1526
    Cell Significance Index: -4.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1530
    Cell Significance Index: -7.1900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1606
    Cell Significance Index: -2.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1698
    Cell Significance Index: -5.5600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1844
    Cell Significance Index: -4.7400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1881
    Cell Significance Index: -2.3500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1909
    Cell Significance Index: -10.0300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2181
    Cell Significance Index: -7.6400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2192
    Cell Significance Index: -4.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2231
    Cell Significance Index: -6.5700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2236
    Cell Significance Index: -3.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2281
    Cell Significance Index: -4.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2321
    Cell Significance Index: -4.5900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2353
    Cell Significance Index: -5.8700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2389
    Cell Significance Index: -5.0000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2493
    Cell Significance Index: -6.3700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2560
    Cell Significance Index: -3.7800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2575
    Cell Significance Index: -3.2500
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.2640
    Cell Significance Index: -2.4000
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.2875
    Cell Significance Index: -2.0900

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:** 1. **Helicase and Nuclease Activities:** The DNA2 protein exhibits both 5'-3' DNA helicase and 5'-flap endonuclease activities, enabling it to unwind and process DNA double-strand breaks. 2. **Cellular Expression:** DNA2 is highly expressed in neurons, intestinal epithelial cells, and stem cells, indicating its critical role in maintaining cellular homeostasis. 3. **Pathway Involvement:** The DNA2 protein is involved in various cellular processes, including DNA replication, repair, and maintenance of telomeres and chromosome stability. 4. **Disease Association:** Mutations or alterations in the DNA2 gene have been linked to defective HDR through homologous recombination repair (hrr) due to BRCA1 or BRCA2 loss of function. **Pathways and Functions:** 1. **DNA Replication:** DNA2 facilitates the unwinding and removal of RNA primers from Okazaki fragments during lagging strand synthesis. 2. **DNA Repair:** The DNA2 protein is involved in processing DNA double-strand breaks through homologous recombination repair (hrr) or single-strand annealing (ssa). 3. **Telomere Maintenance:** DNA2 plays a crucial role in maintaining telomere stability by facilitating semi-conservative replication and resolution of d-loop structures. 4. **Homologous Recombination Repair (hrr):** The DNA2 protein is essential for HDR through homologous recombination, involving BRCA1 and BRCA2. 5. **Cell Cycle Regulation:** DNA2 is involved in regulating the cell cycle, particularly during the G2/M checkpoint, by responding to DNA damage. **Clinical Significance:** 1. **Cancer Association:** Mutations or alterations in the DNA2 gene have been linked to various cancers, including breast and ovarian cancer, highlighting its potential as a cancer biomarker. 2. **Genetic Disorders:** Defects in the DNA2 gene can lead to genetic disorders, such as defective HDR through hrr due to BRCA1 or BRCA2 loss of function. 3. **Telomere Maintenance:** The DNA2 protein's role in maintaining telomere stability makes it an important target for understanding the pathogenesis of telomere-related diseases. In conclusion, the DNA2 gene plays a critical role in maintaining genome stability by facilitating DNA replication and repair. Its involvement in various cellular processes and association with genetic disorders and cancer highlight its importance as a potential therapeutic target for diseases related to DNA damage and repair.

Genular Protein ID: 1605576781

Symbol: DNA2_HUMAN

Name: DNA replication ATP-dependent helicase/nuclease DNA2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7788527

Title: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7788527

DOI: 10.1093/dnares/2.1.37

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 16595799

Title: Isolation of human Dna2 endonuclease and characterization of its enzymatic properties.

PubMed ID: 16595799

DOI: 10.1093/nar/gkl102

PubMed ID: 16595800

Title: Biochemical analysis of human Dna2.

PubMed ID: 16595800

DOI: 10.1093/nar/gkl070

PubMed ID: 18995831

Title: Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates.

PubMed ID: 18995831

DOI: 10.1016/j.molcel.2008.09.024

PubMed ID: 19487465

Title: Human Dna2 is a nuclear and mitochondrial DNA maintenance protein.

PubMed ID: 19487465

DOI: 10.1128/mcb.01834-08

PubMed ID: 20019387

Title: Acetylation of Dna2 endonuclease/helicase and flap endonuclease 1 by p300 promotes DNA stability by creating long flap intermediates.

PubMed ID: 20019387

DOI: 10.1074/jbc.m109.086397

PubMed ID: 21325134

Title: BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.

PubMed ID: 21325134

DOI: 10.1101/gad.2003811

PubMed ID: 21572043

Title: Characterization of the endonuclease and ATP-dependent flap endo/exonuclease of Dna2.

PubMed ID: 21572043

DOI: 10.1074/jbc.m111.243071

PubMed ID: 22570476

Title: Okazaki fragment processing-independent role for human Dna2 enzyme during DNA replication.

PubMed ID: 22570476

DOI: 10.1074/jbc.m112.359018

PubMed ID: 22570407

Title: Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by Dna2 and FEN1.

PubMed ID: 22570407

DOI: 10.1093/nar/gks388

PubMed ID: 24389050

Title: Genomic analysis of primordial dwarfism reveals novel disease genes.

PubMed ID: 24389050

DOI: 10.1101/gr.160572.113

PubMed ID: 37055165

Title: Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

PubMed ID: 37055165

DOI: 10.1136/jmg-2022-109119

PubMed ID: 23352259

Title: Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

PubMed ID: 23352259

DOI: 10.1016/j.ajhg.2012.12.014

PubMed ID: 31478350

Title: Novel mutations in DNA2 associated with myopathy and mtDNA instability.

PubMed ID: 31478350

DOI: 10.1002/acn3.50888

PubMed ID: 31045292

Title: Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

PubMed ID: 31045292

DOI: 10.1002/humu.23776

Sequence Information:

  • Length: 1060
  • Mass: 120415
  • Checksum: 727D4B268FD75C5A
  • Sequence:
  • MEQLNELELL MEKSFWEEAE LPAELFQKKV VASFPRTVLS TGMDNRYLVL AVNTVQNKEG 
    NCEKRLVITA SQSLENKELC ILRNDWCSVP VEPGDIIHLE GDCTSDTWII DKDFGYLILY 
    PDMLISGTSI ASSIRCMRRA VLSETFRSSD PATRQMLIGT VLHEVFQKAI NNSFAPEKLQ 
    ELAFQTIQEI RHLKEMYRLN LSQDEIKQEV EDYLPSFCKW AGDFMHKNTS TDFPQMQLSL 
    PSDNSKDNST CNIEVVKPMD IEESIWSPRF GLKGKIDVTV GVKIHRGYKT KYKIMPLELK 
    TGKESNSIEH RSQVVLYTLL SQERRADPEA GLLLYLKTGQ MYPVPANHLD KRELLKLRNQ 
    MAFSLFHRIS KSATRQKTQL ASLPQIIEEE KTCKYCSQIG NCALYSRAVE QQMDCSSVPI 
    VMLPKIEEET QHLKQTHLEY FSLWCLMLTL ESQSKDNKKN HQNIWLMPAS EMEKSGSCIG 
    NLIRMEHVKI VCDGQYLHNF QCKHGAIPVT NLMAGDRVIV SGEERSLFAL SRGYVKEINM 
    TTVTCLLDRN LSVLPESTLF RLDQEEKNCD IDTPLGNLSK LMENTFVSKK LRDLIIDFRE 
    PQFISYLSSV LPHDAKDTVA CILKGLNKPQ RQAMKKVLLS KDYTLIVGMP GTGKTTTICT 
    LVRILYACGF SVLLTSYTHS AVDNILLKLA KFKIGFLRLG QIQKVHPAIQ QFTEQEICRS 
    KSIKSLALLE ELYNSQLIVA TTCMGINHPI FSRKIFDFCI VDEASQISQP ICLGPLFFSR 
    RFVLVGDHQQ LPPLVLNREA RALGMSESLF KRLEQNKSAV VQLTVQYRMN SKIMSLSNKL 
    TYEGKLECGS DKVANAVINL RHFKDVKLEL EFYADYSDNP WLMGVFEPNN PVCFLNTDKV 
    PAPEQVEKGG VSNVTEAKLI VFLTSIFVKA GCSPSDIGII APYRQQLKII NDLLARSIGM 
    VEVNTVDKYQ GRDKSIVLVS FVRSNKDGTV GELLKDWRRL NVAITRAKHK LILLGCVPSL 
    NCYPPLEKLL NHLNSEKLII DLPSREHESL CHILGDFQRE

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.