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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
  • DNA Replication ATP-Dependent Helicase/Nuclease DNA2 3
  • DNA2 DNA Replication Helicase 2-Like (Yeast) 2
  • DNA Replication Helicase 2 Homolog (Yeast) 2
  • DNA2 DNA Replication Helicase 2-Like 3
  • 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 Telomere C-strand (Lagging Strand) Synthesis and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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

Additional gene information for DNA2 Gene

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

Genomics for DNA2 Gene

GeneHancer (GH) Regulatory Elements for DNA2 Gene

Promoters and enhancers for DNA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I068470 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 585.5 +1.2 1159 2.5 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DNA2 GC10P068471 DDX50 HERC4 SLC25A16 CCAR1 MIR1254-1 RNA5SP319
GH10I068526 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.8 -54.8 -54780 2.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 SLC25A16 DDX50 DNA2 CCAR1 HNRNPH3 HERC4 SIRT1 RPL26P27 SUPV3L1 MIR1254-1
GH10I068327 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.8 +140.2 140246 9.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 HNRNPH3 PBLD DDX50 HERC4 CCAR1 SIRT1 DNA2 RPL26P27 TET1 RPS3AP38
GH10I068405 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.7 +65.7 65694 2.8 HDGF PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 RUFY2 DDX50 SIRT1 DNA2 HNRNPH3 TET1 PBLD
GH10I068559 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.7 -89.3 -89335 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 POLR2B TET1 CCAR1 DDX50 HERC4 HNRNPH3 SIRT1 DNA2 RPL26P27 ATOH7 GC10P068600
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNA2 gene promoter:

Genomic Locations for DNA2 Gene

Genomic Locations for DNA2 Gene
chr10:68,414,064-68,472,516
(GRCh38/hg38)
Size:
58,453 bases
Orientation:
Minus strand
chr10:70,173,821-70,231,879
(GRCh37/hg19)

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

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 posLast=2929, Lys58, Lys178, Lys227, Lys351, Lys536, posLast=811811, and Lys968
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DNA2 Gene

Domains & Families for DNA2 Gene

Gene Families for DNA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for DNA2 Gene

Gene Ontology (GO) - Molecular Function for DNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IDA,IEA 20019387
GO:0003678 NOT DNA helicase activity IDA 16595799
GO:0003824 catalytic activity IEA --
GO:0004386 helicase activity TAS 18995831
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:

Clone Products

  • Addgene plasmids for DNA2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNA2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region ISS 23604072
GO:0005634 nucleus IEA,IDA 19487465
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IDA,IEA --
GO:0005760 colocalizes_with gamma DNA polymerase complex IDA 18995831
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:0000723 telomere maintenance ISS 23604072
GO:0000729 DNA double-strand break processing IDA 21325134
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement 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

(3) Drugs for DNA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) 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
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:

Clone Products

  • Addgene plasmids for DNA2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DNA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNA2 Gene:

DNA2

SOURCE GeneReport for Unigene cluster for DNA2 Gene:

Hs.532446

Evidence on tissue expression from TISSUES for DNA2 Gene

  • Intestine(4.2)
  • Bone marrow(4.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DNA2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia DNA2 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia DNA2 33 34
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia DNA2 33 34
  • 89.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dna2 33
  • 80.13 (n)
mouse
(Mus musculus)
Mammalia Dna2 33 16 34
  • 78.21 (n)
oppossum
(Monodelphis domestica)
Mammalia DNA2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNA2 33 34
  • 69.48 (n)
lizard
(Anolis carolinensis)
Reptilia DNA2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dna2 33
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia dna2-A 33
zebrafish
(Danio rerio)
Actinopterygii dna2 33 34
  • 59.51 (n)
Dr.17469 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4983 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004685 33
  • 47.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2990 33 34
  • 45.16 (n)
worm
(Caenorhabditis elegans)
Secernentea dna-2 33 34
  • 43.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNA2 34 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2411 33
  • 46.99 (n)
rice
(Oryza sativa)
Liliopsida Os04g0588200 33
  • 47.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dna2 33
  • 47.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1203 33
Species where no ortholog for DNA2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs190301454 likely-benign, not specified, not provided 68,422,207(-) A/G intron_variant
rs587777614 pathogenic, Seckel syndrome 8, Ateleiotic dwarfism 68,416,703(-) GG/G intron_variant
rs746522359 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] 68,431,936(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs760412883 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] 68,459,144(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs796052189 likely-benign, Long QT syndrome 68,450,156(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv919n100 CNV gain 25217958
dgv920n100 CNV gain 25217958
esv2674968 CNV deletion 23128226
esv2675728 CNV deletion 23128226
esv2762871 CNV gain 21179565
esv3546458 CNV deletion 23714750
esv3623715 CNV loss 21293372
esv3623716 CNV loss 21293372
esv3623718 CNV loss 21293372
nsv1044477 CNV gain 25217958
nsv1047983 CNV gain 25217958
nsv1050943 CNV gain 25217958
nsv1144495 CNV deletion 24896259
nsv551434 CNV loss 21841781

Variation tolerance for DNA2 Gene

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

Additional Variant Information for DNA2 Gene

Human Gene Mutation Database (HGMD)
DNA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DNA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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.

Additional Disease Information for DNA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 GP (American journal of human genetics 2013) 2 3 4 58
  2. Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by Dna2 and FEN1. (PMID: 22570407) Gloor JW … Bambara RA (Nucleic acids research 2012) 3 4 58
  3. Okazaki fragment processing-independent role for human Dna2 enzyme during DNA replication. (PMID: 22570476) Duxin JP … Stewart SA (The Journal of biological chemistry 2012) 3 4 58
  4. BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. (PMID: 21325134) Nimonkar AV … Kowalczykowski SC (Genes & development 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for DNA2 Gene

  • Addgene plasmids for DNA2

Sources for DNA2 Gene

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