Entity Details

Primary name DNA2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51530
EntryNameDNA2_HUMAN
FullNameDNA replication ATP-dependent helicase/nuclease DNA2
TaxID9606
Evidenceevidence at protein level
Length1060
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesDNA2

GO terms

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GOName
GO:0000076 DNA replication checkpoint signaling
GO:0000723 telomere maintenance
GO:0000729 DNA double-strand break processing
GO:0000781 chromosome, telomeric region
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003723 RNA binding
GO:0004386 helicase activity
GO:0004518 nuclease activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0006260 DNA replication
GO:0006264 mitochondrial DNA replication
GO:0006284 base-excision repair
GO:0016887 ATP hydrolysis activity
GO:0016890 site-specific endodeoxyribonuclease activity, specific for altered base
GO:0017108 5'-flap endonuclease activity
GO:0017116 single-stranded DNA helicase activity
GO:0032201 telomere maintenance via semi-conservative replication
GO:0033567 DNA replication, Okazaki fragment processing
GO:0042645 mitochondrial nucleoid
GO:0043137 DNA replication, removal of RNA primer
GO:0043139 5'-3' DNA helicase activity
GO:0043504 mitochondrial DNA repair
GO:0044806 G-quadruplex DNA unwinding
GO:0045740 positive regulation of DNA replication
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0071932 replication fork reversal
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090656 t-circle formation
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1902990 mitotic telomere maintenance via semi-conservative replication

Subcellular Location

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Subcellular Location
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR014808 DNA replication factor Dna2, N-terminalDomainDomain
IPR026851 DNA replication ATP-dependent helicase/nuclease Dna2FamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR041677 DNA2/NAM7 helicase, helicase domainDomainDomain
IPR041679 DNA2/NAM7 helicase-like, C-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
615156 OMIMProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6)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. The disease is caused by variants affecting the gene represented in this entry.
615807 OMIMSeckel syndrome 8 (SCKL8)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. The disease is caused by variants affecting the gene represented in this entry.