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DNA2 Gene

protein-coding   GIFtS: 56
GCID: GC10M070173

DNA Replication Helicase/Nuclease 2

(Previous names: DNA2 DNA replication helicase 2-like (yeast), DNA replication...)
(Previous symbol: DNA2L)
  See DNA2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DNA Replication Helicase/Nuclease 21 2     DNA Replication Helicase 2 Homolog (Yeast)1
DNA2L1 2 3 5     DNA2 DNA Replication Helicase 2-Like (Yeast)1
DNA Replication ATP-Dependent Helicase-Like Homolog2 3     DNA Replication ATP-Dependent Helicase/Nuclease DNA22
hDNA22 3     DNA Replication Helicase 2 Homolog2
PEOA62 5     DNA2-Like Helicase2
KIAA00833 5     

External Ids:    HGNC: 29391   Entrez Gene: 17632   Ensembl: ENSG000001383467   OMIM: 6018105   UniProtKB: P515303   

Export aliases for DNA2 gene to outside databases

Previous GC identifers: GC10M069844 GC10M064173


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DNA2 Gene:
DNA2 is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability
(Duxin et al., 2009 (PubMed 19487465)).(supplied by OMIM, Nov 2010)

GeneCards Summary for DNA2 Gene:
DNA2 (DNA replication helicase/nuclease 2) is a protein-coding gene. Diseases associated with DNA2 include seckel syndrome type 8, and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and ATPase activity.

UniProtKB/Swiss-Prot: DNA2_HUMAN, P51530
Function: Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki
fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are
coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too
short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand
break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is
prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments
processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3'
helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a
key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate.
According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase
activity may promote the motion of DNA2 on the flap, helping the nuclease function

Gene Wiki entry for DNA2 (DNA2L) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNA2 gene promoter:
         FOXF2   AML1a   IRF-1   Evi-1   AREB6   PPAR-gamma1   FOXJ2 (long isoform)   PPAR-gamma2   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DNA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21.3-q22.1   Ensembl cytogenetic band:  10q21.3   HGNC cytogenetic band: 10q21.3-q22.1

DNA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNA2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M070173:  view genomic region     (about GC identifiers)

Start:
70,173,821 bp from pter      End:
70,231,879 bp from pter
Size:
58,059 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DNA2_HUMAN, P51530 (See protein sequence)
Recommended Name: DNA replication ATP-dependent helicase/nuclease DNA2  
Size: 1060 amino acids; 120415 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: Interacts with BLM and WDHD1
Sequence caution: Sequence=AAH28188.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH63664.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA07647.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI17237.1; Type=Erroneous gene
model prediction; Sequence=CAI17238.1; Type=Erroneous gene model prediction;
Secondary accessions: Q2NKM1 Q5TC49 Q5TC50 Q6P455 Q6PI80 Q7Z6H9 Q8N346
Alternative splicing: 4 isoforms:  P51530-1   P51530-2   P51530-3   P51530-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNA2: NX_P51530

Explore proteomics data for DNA2 at MOPED

Post-translational modifications: 

  • Acetylated by EP300, leading to stimulate the 5'-3' endonuclease, the 5'-3' helicase and DNA-dependent ATPase
    activities, possibly by increasing DNA substrate affinity1
  • Ubiquitination2 at Lys29, Lys58, Lys178, Lys227, Lys351, Lys536, Lys811, Lys968
  • Modification sites at PhosphoSitePlus

  • See DNA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073918.2  
    ENSEMBL proteins: 
     ENSP00000450393   ENSP00000351185   ENSP00000389713   ENSP00000450014   ENSP00000382133  
     ENSP00000382132  
    Reactome Protein details: P51530

    DNA2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DNA2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DNA2
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    Novus Biologicals DNA2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DNA2 

     
    Search antibodies-online for proteins for DNA2 

     
    antibodies-online peptides for DNA2

    DNA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for DNA2 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for DNA2
    LSBio Antibodies in human, mouse, rat for DNA2
    antibodies-online antibodies for DNA2 (14 products) 

    DNA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNA2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for DNA2 
    antibodies-online kits for DNA2 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR026851 Dna2
     IPR027417 P-loop_NTPase
     IPR014808 DNA_replication_fac_Dna2_N

    Graphical View of Domain Structure for InterPro Entry P51530

    ProtoNet protein and cluster: P51530

    UniProtKB/Swiss-Prot: DNA2_HUMAN, P51530
    Similarity: Belongs to the DNA2/NAM7 helicase family


    Find genes that share domains with DNA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNA2_HUMAN, P51530
    Function: Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki
    fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are
    coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too
    short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand
    break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is
    prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments
    processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3'
    helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a
    key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate.
    According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase
    activity may promote the motion of DNA2 on the flap, helping the nuclease function
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA--
    GO:0003678NOT DNA helicase activity IDA16595799
    GO:0004386helicase activity TAS18995831
    GO:0004518nuclease activity IDA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with DNA2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DNA2:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dna2):
     cellular  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with DNA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dna2tm1.1Lzhg for DNA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNA2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DNA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNA2 (see all 19):
    hsa-miR-607 hsa-let-7d hsa-let-7c hsa-miR-1297 hsa-miR-570 hsa-let-7g hsa-let-7a hsa-miR-320e
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DNA2
    Predesigned siRNA for gene silencing in human, mouse, rat DNA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DNA2

    Clone
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    OriGene clones in human, mouse for DNA2 (see all 8)
    OriGene ORF clones in mouse, rat for DNA2
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    GenScript: all cDNA clones in your preferred vector: DNA2 (NM_001080449)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNA2
    Addgene plasmids for DNA2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DNA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DNA2_HUMAN, P51530: Nucleus. Mitochondrion. Note=Was initially reported to be exclusively mitochondrial
    (PubMed:18995831). However, it was later shown to localize both in mitochondrion and nucleus (PubMed:19487465)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol1
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19487465
    GO:0005654nucleoplasm TAS--
    GO:0005760colocalizes with gamma DNA polymerase complex IDA18995831
    GO:0042645mitochondrial nucleoid IDA19487465

    Find genes that share ontologies with DNA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNA2 About    
    See pathways by source

    SuperPathContained pathways About
    1DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    2Telomere C-strand (Lagging Strand) Synthesis
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Lagging Strand Synthesis0.00
    Extension of Telomeres0.79
    Removal of the Flap Intermediate0.00
    Processive synthesis on the lagging strand0.00
    Processive synthesis on the C-strand of the telomere0.00
    Removal of the Flap Intermediate from the C-strand0.00
    3CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    S Phase0.78
    DNA Replication0.92
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    5Packaging Of Telomere Ends
    Telomere Maintenance0.64
    Chromosome Maintenance0.62


    Find genes that share SuperPaths with DNA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for DNA2
        Removal of the Flap Intermediate
    Removal of the Flap Intermediate from the C-strand


    1 Kegg Pathway  (Kegg details for DNA2):
        DNA replication

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNA2
    Interactions:

        Search GeneGlobe Interaction Network for DNA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DNA2 (P515303 ENSP000003821334) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEN1P397483, ENSP000003054804I2D: score=3 STRING: ENSP00000305480
    CDK3Q005263, ENSP000004000884I2D: score=1 STRING: ENSP00000400088
    LIG1P188583, ENSP000002632744I2D: score=1 STRING: ENSP00000263274
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    MUS81Q96NY93, ENSP000003078534I2D: score=1 STRING: ENSP00000307853
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000076DNA replication checkpoint IMP--
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0000729DNA double-strand break processing IDA--

    Find genes that share ontologies with DNA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNA2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DNA2 gene: 
    NM_001080449.2  

    Unigene Cluster for DNA2:

    DNA replication helicase 2 homolog (yeast)
    Hs.532446  [show with all ESTs]
    Unigene Representative Sequence: NM_001080449
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551118(uc001jog.2) ENST00000358410 ENST00000440722(uc021prv.1)
    ENST00000550545 ENST00000478029 ENST00000550357 ENST00000399180(uc021prt.1 uc021pru.1)
    ENST00000399179
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DNA2 (see all 19):
    hsa-miR-607 hsa-let-7d hsa-let-7c hsa-miR-1297 hsa-miR-570 hsa-let-7g hsa-let-7a hsa-miR-320e
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNA2
      QuantiTect SYBR Green Assays in human, mouse, rat DNA2
      QuantiFast Probe-based Assays in human, mouse, rat DNA2

    Additional mRNA sequence: 

    AK307939.1 AK308333.1 AK308358.1 BC017003.1 BC028188.1 BC041115.2 BC053574.1 BC063664.1 
    BC073945.1 D42046.1 NR_102264.1 

    8 DOTS entries:

    DT.112866  DT.452500  DT.100720400  DT.99933420  DT.100737990  DT.86851248  DT.100716362  DT.91758755 

    Selected AceView cDNA sequences (see all 58):

    BC063664 AA282472 BC017003 BE349079 BC041115 CR606021 AA767191 AA282473 
    AA284382 D42046 BC053574 AA282895 BC073945 BX329314 AA745243 AW014405 
    BE748696 AW628305 BE748018 AA292702 CD644575 BQ435874 W86421 AW181911 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DNA2    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
    SP1:                                -                       -               
    SP2:                                -           -           -               
    SP3:                                                                        


    ECgene alternative splicing isoforms for DNA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTTTTA
    DNA2 Expression
    About this image


    DNA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
    DNA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532446
        Custom PCR Arrays for DNA2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DNA2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dna21 , 5 DNA replication helicase 2 homolog (yeast)1, 5 78.21(n)1
    80(a)1
      10 (32.51 cM)5
    3277621  NM_177372.31  NP_796346.21 
     629470265 
    chicken
    (Gallus gallus)
    Aves DNA21 DNA replication helicase 2 homolog (yeast) 69.48(n)
    67.11(a)
      423688  NM_001006497.1  NP_001006497.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNA26
    DNA replication helicase/nuclease 2
    64(a)
    1 ↔ 1
    GL343215.1(1559343-1595449)
    African clawed frog
    (Xenopus laevis)
    Amphibia dna2-A2 helicase 73.11(n)    AF474372.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.174692 Transcribed sequence with moderate similarity to protein more 72.91(n)    BM957338.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG29901 CG2990 45.16(n)
    36.37(a)
      31934  NM_167214.1  NP_727386.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dna-21 dna-2 43.86(n)
    34.6(a)
      174809  NM_064114.4  NP_496515.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DNA2(YHR164C)4 Tripartite DNA replication factor with single-stranded more   --   8(429178-424610) 856569  NP_012034.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons emb24111 emb2411 46.99(n)
    36.8(a)
      837406  NM_001198014.1  NP_001184943.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05882001 Os04g0588200 47.86(n)
    38.29(a)
      4336807  NM_001060229.2  NP_001053694.2 


    ENSEMBL Gene Tree for DNA2 (if available)
    TreeFam Gene Tree for DNA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DNA2 (see all 1433)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699064
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)4--see VAR_0699062 K E mis40--------
    VAR_0699074
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)4--see VAR_0699072 V I mis40--------
    VAR_0699054
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)4--see VAR_0699052 R H mis40--------
    rs1807137371,2
    --70173345(+) AACCCC/GTCTCC 2 -- int10--------
    rs1839035761,2
    --70173405(+) ATGCTA/GCTTGG 2 -- int10--------
    rs1418412501,2
    --70173466(+) TGCGGC/TCGGGC 2 -- int10--------
    rs618550861,2
    --70173472(+) CGGGCA/GCGGTG 2 -- int10--------
    rs1893807701,2
    C--70173537(+) TCAGGA/CGATGG 2 -- int10--------
    rs1823243701,2
    --70173599(+) AAAAAA/CATTAG 2 -- int10--------
    rs1869262621,2
    C--70173611(+) TAGGCA/C/GTGGTG 2 -- int10--------

    HapMap Linkage Disequilibrium report for DNA2 (70173821 - 70231879 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DNA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674968CNV Deletion23128226
    esv2675728CNV Deletion23128226
    nsv895691CNV Loss21882294
    nsv895692CNV Loss21882294

    Human Gene Mutation Database (HGMD): DNA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNA2
    DNA2.0 Custom Variant and Variant Library Synthesis for DNA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601810   
    OMIM disorders: 615156  
    UniProtKB/Swiss-Prot: DNA2_HUMAN, P51530
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)
    [MIM:615156]: A disorder characterized by muscle weakness, mainly affecting the lower limbs, external
    ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in
    childhood or adulthood and show slow progression. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 2 diseases for DNA2:    
    About MalaCards
    seckel syndrome type 8    progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6

    1 disease from the University of Copenhagen DISEASES database for DNA2:
    Werner syndrome

    Find genes that share disorders with DNA2           About GenesLikeMe

    Genetic Association Database (GAD): DNA2
    Human Genome Epidemiology (HuGE) Navigator: DNA2 (1 document)

    Export disorders for DNA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DNA2 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with DNA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. (PubMed id 23352259)1, 2, 3 Ronchi D....Comi G.P. (Am. J. Hum. Genet. 2013)
    2. Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by Dna2 and FEN1. (PubMed id 22570407)1, 2 Gloor J.W.... Bambara R.A. (Nucleic Acids Res. 2012)
    3. Okazaki fragment processing-independent role for human Dna2 enzyme during DNA replication. (PubMed id 22570476)1, 2 Duxin J.P.... Stewart S.A. (J. Biol. Chem. 2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Acetylation of Dna2 endonuclease/helicase and flap endonuclease 1 by p300 promotes DNA stability by creating long flap intermediates. (PubMed id 20019387)1, 2 Balakrishnan L.... Bambara R.A. (J. Biol. Chem. 2010)
    6. Human Dna2 is a nuclear and mitochondrial DNA maintenance protein. (PubMed id 19487465)1, 2 Duxin J.P.... Stewart S.A. (Mol. Cell. Biol. 2009)
    7. Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates. (PubMed id 18995831)1, 2 Zheng L.... Shen B. (Mol. Cell 2008)
    8. Single strand annealing and ATP-independent strand exchange activities of yeast and human DNA2: possible role in Okazaki fragment maturation. (PubMed id 17032657)1, 3 Masuda-Sasa T....Campbell J.L. (J. Biol. Chem. 2006)
    9. Biochemical analysis of human Dna2. (PubMed id 16595800)1, 2 Masuda-Sasa T.... Campbell J.L. (Nucleic Acids Res. 2006)
    10. Isolation of human Dna2 endonuclease and characterization of its enzymatic properties. (PubMed id 16595799)1, 2 Kim J.H.... Seo Y.S. (Nucleic Acids Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1763 HGNC: 2939 AceView: DNA2L Ensembl:ENSG00000138346 euGenes: HUgn1763
    ECgene: DNA2 Kegg: 1763 H-InvDB: DNA2

    (According to HUGE)
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    HUGE: KIAA0083

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DNA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNA2 gene:
    Search GeneIP for patents involving DNA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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