DNA2
entrez
1763
canonical
uniprot
P51530
canonical
ensembl
ENSG00000138346
resolver
ensp
ENSP00000351185
resolver
genesymbol
DNA2
resolver
genesymbol_syn
DNA2L
resolver
genesymbol_syn
KIAA0083
resolver
hgnc
HGNC:2939
resolver
uniprot
Q2NKM1
resolver
uniprot
Q5TC49
resolver
uniprot
Q5TC50
resolver
uniprot
Q6P455
resolver
uniprot
Q6PI80
resolver
uniprot
Q7Z6H9
resolver
uniprot
Q8N346
resolver
uniprot_entry
DNA2_HUMAN
resolver
uniprot_sec
Q2NKM1
resolver
uniprot_sec
Q5TC49
resolver
uniprot_sec
Q5TC50
resolver
uniprot_sec
Q6P455
resolver
uniprot_sec
Q6PI80
resolver
uniprot_sec
Q7Z6H9
resolver
uniprot_sec
Q8N346
resolver
amino_acid_sequence
MEQLNELELLMEKSFWEEAELPAELFQKKVVASFPRTVLSTGMDNRYLVLAVNTVQNKEGNCEKRLVITASQSLENKELCILRNDWCSVPVEPGDIIHLEGDCTSDTWIIDKDFGYLILYPDMLISGTSIASSIRCMRRAVLSETFRSSDPATRQMLIGTVLHEVFQKAINNSFAPEKLQELAFQTIQEIRHLKEMYRLNLSQDEIKQEVEDYLPSFCKWAGDFMHKNTSTDFPQMQLSLPSDNSKDNSTCNIEVVKPMDIEESIWSPRFGLKGKIDVTVGVKIHRGYKTKYKIMPLELKTGKESNSIEHRSQVVLYTLLSQERRADPEAGLLLYLKTGQMYPVPANHLDKRELLKLRNQMAFSLFHRISKSATRQKTQLASLPQIIEEEKTCKYCSQIGNCALYSRAVEQQMDCSSVPIVMLPKIEEETQHLKQTHLEYFSLWCLMLTLESQSKDNKKNHQNIWLMPASEMEKSGSCIGNLIRMEHVKIVCDGQYLHNFQCKHGAIPVTNLMAGDRVIVSGEERSLFALSRGYVKEINMTTVTCLLDRNLSVLPESTLFRLDQEEKNCDIDTPLGNLSKLMENTFVSKKLRDLIIDFREPQFISYLSSVLPHDAKDTVACILKGLNKPQRQAMKKVLLSKDYTLIVGMPGTGKTTTICTLVRILYACGFSVLLTSYTHSAVDNILLKLAKFKIGFLRLGQIQKVHPAIQQFTEQEICRSKSIKSLALLEELYNSQLIVATTCMGINHPIFSRKIFDFCIVDEASQISQPICLGPLFFSRRFVLVGDHQQLPPLVLNREARALGMSESLFKRLEQNKSAVVQLTVQYRMNSKIMSLSNKLTYEGKLECGSDKVANAVINLRHFKDVKLELEFYADYSDNPWLMGVFEPNNPVCFLNTDKVPAPEQVEKGGVSNVTEAKLIVFLTSIFVKAGCSPSDIGIIAPYRQQLKIINDLLARSIGMVEVNTVDKYQGRDKSIVLVSFVRSNKDGTVGELLKDWRRLNVAITRAKHKLILLGCVPSLNCYPPLEKLLNHLNSEKLIIDLPSREHESLCHILGDFQRE
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:31478350}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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 intellectual disability. {ECO:0000269|PubMed:24389050, ECO:0000269|PubMed:31045292}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rothmund-Thomson syndrome 4 (RTS4) [MIM:620819]: A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. Inheritance is autosomal recessive. RTS4 patients also exhibit microcephaly and photosensitivity with bullae. Growth failure is severe, with some individuals showing signs of growth hormone or combined pituitary hormone deficiency. {ECO:0000269|PubMed:37055165}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
ec_number
5.6.2.3
uniprot
proteins
function
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 absent to weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function. {ECO:0000269|PubMed:16595799, ECO:0000269|PubMed:16595800, ECO:0000269|PubMed:18995831, ECO:0000269|PubMed:19487465, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:21572043, ECO:0000269|PubMed:22570407, ECO:0000269|PubMed:22570476, ECO:0000269|PubMed:31478350}.
uniprot
proteins
mass_dalton
120415
uniprot
proteins
mutagenesis
MUTAGEN 277; /note="D->A: Abolishes ability to resect DNA in present of BLM."; /evidence="ECO:0000269|PubMed:16595800, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:22570476"; MUTAGEN 654; /note="K->E: Abolishes ability to unwind DNA, while it does not affect ability to resect DNA."; /evidence="ECO:0000269|PubMed:16595800, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:21572043, ECO:0000269|PubMed:22570476
uniprot
proteins
post_translational_modification
PTM: Acetylated by EP300, leading to stimulation of the 5'-3' endonuclease, and small increases in the weak 5'-3' helicase and DNA-dependent ATPase activities, possibly by increasing DNA substrate affinity. {ECO:0000269|PubMed:20019387}.
uniprot
proteins
protein_family
DNA2/NAM7 helicase family
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16595799
uniprot
proteins
pubmed
16595800
uniprot
proteins
pubmed
18995831
uniprot
proteins
pubmed
19487465
uniprot
proteins
pubmed
20019387
uniprot
proteins
pubmed
21325134
uniprot
proteins
pubmed
21572043
uniprot
proteins
pubmed
22570407
uniprot
proteins
pubmed
22570476
uniprot
proteins
pubmed
23352259
uniprot
proteins
pubmed
24389050
uniprot
proteins
pubmed
31045292
uniprot
proteins
pubmed
31478350
uniprot
proteins
pubmed
37055165
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
1060
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins