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Aliases for DNA2 Gene

Aliases for DNA2 Gene

  • DNA Replication Helicase/Nuclease 2 2 3
  • DNA2L 3 4 6
  • DNA Replication ATP-Dependent Helicase-Like Homolog 3 4
  • KIAA0083 4 6
  • HDNA2 3 4
  • DNA Replication ATP-Dependent Helicase/Nuclease DNA2 3
  • DNA2 DNA Replication Helicase 2-Like (Yeast) 2
  • DNA Replication Helicase 2 Homolog (Yeast) 2
  • DNA Replication Helicase 2 Homolog 3
  • DNA2-Like Helicase 3
  • PEOA6 6

External Ids for DNA2 Gene

Previous Symbols for DNA2 Gene

  • DNA2L

Summaries for DNA2 Gene

Entrez Gene Summary for DNA2 Gene

  • This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for DNA2 Gene

DNA2 (DNA Replication Helicase/Nuclease 2) is a Protein Coding gene. Diseases associated with DNA2 include progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 and seckel syndrome 8. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include ATPase activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for DNA2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNA2 Gene

Genomics for DNA2 Gene

Genomic Location for DNA2 Gene

Start:
68,414,064 bp from pter
End:
68,472,409 bp from pter
Size:
58,346 bases
Orientation:
Minus strand

Genomic View for DNA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNA2 Gene

Regulatory Elements for DNA2 Gene

Proteins for DNA2 Gene

  • Protein details for DNA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51530-DNA2_HUMAN
    Recommended name:
    DNA replication ATP-dependent helicase/nuclease DNA2
    Protein Accession:
    P51530
    Secondary Accessions:
    • Q2NKM1
    • Q5TC49
    • Q5TC50
    • Q6P455
    • Q6PI80
    • Q7Z6H9
    • Q8N346

    Protein attributes for DNA2 Gene

    Size:
    1060 amino acids
    Molecular mass:
    120415 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • Interacts with BLM and WDHD1.
    SequenceCaution:
    • Sequence=AAH28188.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH63664.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA07647.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI17237.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17238.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DNA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNA2 Gene

Proteomics data for DNA2 Gene at MOPED

Post-translational modifications for DNA2 Gene

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

Other Protein References for DNA2 Gene

No data available for DME Specific Peptides for DNA2 Gene

Domains for DNA2 Gene

Protein Domains for DNA2 Gene

UniProtKB/Swiss-Prot:

DNA2_HUMAN
Family:
  • Belongs to the DNA2/NAM7 helicase family.:
    • P51530
genes like me logo Genes that share domains with DNA2: view

No data available for Gene Families for DNA2 Gene

Function for DNA2 Gene

Molecular function for DNA2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for DNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 20019387
GO:0003678 NOT DNA helicase activity IDA 16595799
GO:0004386 helicase activity TAS 18995831
GO:0004518 nuclease activity IDA 21325134
GO:0005515 protein binding IPI 20019387
genes like me logo Genes that share ontologies with DNA2: view

Phenotypes for DNA2 Gene

MGI mutant phenotypes for DNA2:
inferred from 1 alleles
GenomeRNAi human phenotypes for DNA2:
genes like me logo Genes that share phenotypes with DNA2: view

Animal Models for DNA2 Gene

MGI Knock Outs for DNA2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DNA2 Gene

Localization for DNA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNA2 Gene

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). {ECO:0000269 PubMed:18995831, ECO:0000269 PubMed:19487465}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNA2 Gene COMPARTMENTS Subcellular localization image for DNA2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19487465
GO:0005654 nucleoplasm TAS --
GO:0005760 colocalizes_with gamma DNA polymerase complex IDA 18995831
GO:0042645 mitochondrial nucleoid IDA 19487465
genes like me logo Genes that share ontologies with DNA2: view

Pathways for DNA2 Gene

genes like me logo Genes that share pathways with DNA2: view

Pathways by source for DNA2 Gene

1 KEGG pathway for DNA2 Gene

Gene Ontology (GO) - Biological Process for DNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000076 DNA replication checkpoint IMP 22570476
GO:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0000729 DNA double-strand break processing IDA 21325134
genes like me logo Genes that share ontologies with DNA2: view

Transcripts for DNA2 Gene

Unigene Clusters for DNA2 Gene

DNA replication helicase 2 homolog (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNA2 Gene

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

Relevant External Links for DNA2 Gene

GeneLoc Exon Structure for
DNA2
ECgene alternative splicing isoforms for
DNA2

Expression for DNA2 Gene

mRNA expression in normal human tissues for DNA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNA2 Gene

SOURCE GeneReport for Unigene cluster for DNA2 Gene Hs.532446

genes like me logo Genes that share expressions with DNA2: view

Orthologs for DNA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNA2 36
  • 99.75 (n)
  • 99.62 (a)
DNA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNA2 36
  • 89.27 (n)
  • 89.42 (a)
DNA2 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNA2 36
  • 89.87 (n)
  • 89 (a)
DNA2 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dna2 36
  • 78.21 (n)
  • 80 (a)
Dna2 16
Dna2 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNA2 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dna2 36
  • 80.13 (n)
  • 80.13 (a)
chicken
(Gallus gallus)
Aves DNA2 36
  • 69.48 (n)
  • 67.11 (a)
DNA2 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNA2 37
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dna2-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dna2 36
  • 65.37 (n)
  • 64.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4983 36
zebrafish
(Danio rerio)
Actinopterygii dna2 36
  • 59.51 (n)
  • 59.18 (a)
dna2 37
  • 44 (a)
OneToOne
Dr.17469 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004685 36
  • 47.04 (n)
  • 38.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2990 36
  • 45.16 (n)
  • 36.37 (a)
CG2990 37
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dna-2 36
  • 43.86 (n)
  • 34.6 (a)
dna-2 37
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNA2 37
  • 22 (a)
OneToOne
DNA2 39
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2411 36
  • 46.99 (n)
  • 36.8 (a)
rice
(Oryza sativa)
Liliopsida Os04g0588200 36
  • 47.86 (n)
  • 38.29 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dna2 36
  • 47.34 (n)
  • 38.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1203 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToOne
Species with no ortholog for DNA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNA2 Gene

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

Paralogs for DNA2 Gene

No data available for Paralogs for DNA2 Gene

Variants for DNA2 Gene

Sequence variations from dbSNP and Humsavar for DNA2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1060319 -- 68,422,631(-) CACTG(A/T)TAAAC intron-variant
rs1142051 -- 68,458,785(+) ggagg(C/T)tgcag intron-variant
rs1142052 -- 68,458,795(+) gtgag(C/T)tgaga intron-variant
rs1322828 -- 68,454,151(+) ATTTT(A/C)TCCAC intron-variant
rs1535539 -- 68,471,944(-) CGCCT(C/T)TTTCC utr-variant-5-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNA2 Gene

Variant ID Type Subtype PubMed ID
nsv895691 CNV Loss 21882294
nsv895692 CNV Loss 21882294
esv2674968 CNV Deletion 23128226
esv2675728 CNV Deletion 23128226

Relevant External Links for DNA2 Gene

HapMap Linkage Disequilibrium report
DNA2
Human Gene Mutation Database (HGMD)
DNA2

Disorders for DNA2 Gene

(1) OMIM Diseases for DNA2 Gene (601810)

UniProtKB/Swiss-Prot

DNA2_HUMAN
  • 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. {ECO:0000269 PubMed:23352259}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seckel syndrome 8 (SCKL8) [MIM:615807]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:24389050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DNA2 Gene

Relevant External Links for DNA2

Genetic Association Database (GAD)
DNA2
Human Genome Epidemiology (HuGE) Navigator
DNA2
genes like me logo Genes that share disorders with DNA2: view

Publications for DNA2 Gene

  1. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. (PMID: 23352259) Ronchi D. … Comi G.P. (Am. J. Hum. Genet. 2013) 2 3 4
  2. Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by Dna2 and FEN1. (PMID: 22570407) Gloor J.W. … Bambara R.A. (Nucleic Acids Res. 2012) 3 4
  3. Okazaki fragment processing-independent role for human Dna2 enzyme during DNA replication. (PMID: 22570476) Duxin J.P. … Stewart S.A. (J. Biol. Chem. 2012) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. 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. (PMID: 7788527) Nagase T. … Nomura N. (DNA Res. 1995) 3 4

Products for DNA2 Gene

  • Addgene plasmids for DNA2

Sources for DNA2 Gene

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