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Aliases for DNA2 Gene

Aliases for DNA2 Gene

  • DNA Replication Helicase/Nuclease 2 2 3 5
  • DNA Replication ATP-Dependent Helicase-Like Homolog 3 4
  • DNA2L 3 4
  • HDNA2 3 4
  • 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
  • KIAA0083 4

External Ids for DNA2 Gene

Previous HGNC Symbols for DNA2 Gene

  • DNA2L

Previous GeneCards Identifiers for DNA2 Gene

  • GC10M069844
  • GC10M070173
  • GC10M064173

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 Checkpoints and Gene Expression. 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

Regulatory Elements for DNA2 Gene

Enhancers for DNA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNA2 on UCSC Golden Path with GeneCards custom track

Promoters for DNA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNA2 Gene

Chromosome:
10
Start:
68,414,064 bp from pter
End:
68,472,516 bp from pter
Size:
58,453 bases
Orientation:
Minus strand

Genomic View for DNA2 Gene

Genes around DNA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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};

    Three dimensional structures from OCA and Proteopedia for DNA2 Gene

    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.
  • Ubiquitination at Lys 29, Lys 58, Lys 178, Lys 227, Lys 351, Lys 536, Lys 811, and Lys 968
  • Modification sites at PhosphoSitePlus

Other Protein References for DNA2 Gene

No data available for DME Specific Peptides for DNA2 Gene

Domains & Families for DNA2 Gene

Gene Families for DNA2 Gene

Protein Domains for DNA2 Gene

Graphical View of Domain Structure for InterPro Entry

P51530

UniProtKB/Swiss-Prot:

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

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:0003678 NOT DNA helicase activity IDA 16595799
GO:0004386 helicase activity TAS 18995831
GO:0005515 protein binding IPI 20019387
GO:0043139 5-3 DNA helicase activity IDA 20019387
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DNA2: view
genes like me logo Genes that share phenotypes with DNA2: view

Human Phenotype Ontology for DNA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNA2 Gene

MGI Knock Outs for DNA2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with DNA2: view

Pathways & Interactions for DNA2 Gene

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

Pathways by source 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:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing IDA 21325134
GO:0000731 DNA synthesis involved in DNA repair TAS --
genes like me logo Genes that share ontologies with DNA2: view

No data available for SIGNOR curated interactions for DNA2 Gene

Drugs & Compounds for DNA2 Gene

(1) Drugs for DNA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for DNA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds 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

Protein differential expression in normal tissues from HIPED for DNA2 Gene

This gene is overexpressed in Nasal epithelium (42.0) and Vitreous humor (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DNA2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DNA2 Gene

Orthologs for DNA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNA2 35
  • 89.27 (n)
  • 89.42 (a)
DNA2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNA2 35
  • 89.87 (n)
  • 89 (a)
DNA2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dna2 35
  • 78.21 (n)
  • 80 (a)
Dna2 16
Dna2 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNA2 35
  • 99.75 (n)
  • 99.62 (a)
DNA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dna2 35
  • 80.13 (n)
  • 80.13 (a)
oppossum
(Monodelphis domestica)
Mammalia DNA2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves DNA2 35
  • 69.48 (n)
  • 67.11 (a)
DNA2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNA2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dna2 35
  • 65.37 (n)
  • 64.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia dna2-A 35
zebrafish
(Danio rerio)
Actinopterygii dna2 35
  • 59.51 (n)
  • 59.18 (a)
Dr.17469 35
dna2 36
  • 44 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4983 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004685 35
  • 47.04 (n)
  • 38.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2990 35
  • 45.16 (n)
  • 36.37 (a)
CG2990 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dna-2 35
  • 43.86 (n)
  • 34.6 (a)
dna-2 36
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNA2 36
  • 22 (a)
OneToOne
DNA2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2411 35
  • 46.99 (n)
  • 36.8 (a)
rice
(Oryza sativa)
Liliopsida Os04g0588200 35
  • 47.86 (n)
  • 38.29 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1203 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dna2 35
  • 47.34 (n)
  • 38.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_069905 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)
VAR_069906 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)
VAR_069907 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)
rs1535539 -- 68,471,944(-) CGCCT(C/G/T)TTTCC intron-variant, utr-variant-5-prime
rs1801041 -- 68,414,950(-) ATTTA(A/T)TGCAG nc-transcript-variant, utr-variant-3-prime

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

Variation tolerance for DNA2 Gene

Gene Damage Index Score: 6.43; 77.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNA2 Gene

Human Gene Mutation Database (HGMD)
DNA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNA2 Gene

Disorders for DNA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6
  • progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6
seckel syndrome 8
  • seckel syndrome type 8
mitochondrial dna deletion syndrome with progressive myopathy
  • mitochondrial dna deletion syndrome with limb-girdle weakness
growth hormone deficiency, isolated, type ia
  • dwarfism
ophthalmoplegia
  • oculomotor paralysis
- elite association - COSMIC cancer census association via MalaCards
Search DNA2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DNA2

Genetic Association Database (GAD)
DNA2
Human Genome Epidemiology (HuGE) Navigator
DNA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNA2
genes like me logo Genes that share disorders with DNA2: view

No data available for Genatlas for DNA2 Gene

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 67
  2. Single strand annealing and ATP-independent strand exchange activities of yeast and human DNA2: possible role in Okazaki fragment maturation. (PMID: 17032657) Masuda-Sasa T. … Campbell J.L. (J. Biol. Chem. 2006) 2 3
  3. Assignment of the closest human homologue (DNA2L:KIAA0083) of the yeast Dna2 helicase gene to chromosome band 10q21.3-q22.1. (PMID: 8938459) Eki T. … Hanaoka F. (Genomics 1996) 2 3
  4. DNA2 drives processing and restart of reversed replication forks in human cells. (PMID: 25733713) Thangavel S. … Vindigni A. (J. Cell Biol. 2015) 3
  5. BRCA1 and CtIP Are Both Required to Recruit Dna2 at Double-Strand Breaks in Homologous Recombination. (PMID: 25909997) Hoa N.N. … Sasanuma H. (PLoS ONE 2015) 3

Products for DNA2 Gene

Sources for DNA2 Gene

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