Aliases for DNA2 Gene
External Ids for DNA2 Gene
Previous HGNC Symbols for DNA2 Gene
Previous GeneCards Identifiers 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 mitochondrial dna deletion syndrome with progressive myopathy and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6. Among its related pathways are Cell Cycle, Mitotic and Resolution of D-Loop Structures. 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.