REPAIRtoire - a database of DNA repair pathways

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APEX2

APEX nuclease (apurinic/apyrimidinic endonuclease) 2

On chromosome: Xp11.21
Known also as: APE2; XTH2; APEXL2;


NCBI Gene ID: 27301
NCBI Ensembl Id: ENSG00000169188
MIM Id: (from NCBI OMIM database) 300773
Species: Homo sapiens

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair (BER). [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M Towards a proteome-scale map of the human protein-protein interaction network. Nature Oct. 20, 2005
Burkovics P, Szukacsov V, Unk I, Haracska L Human Ape2 protein has a 3'-5' exonuclease activity that acts preferentially on mismatched base pairs. Nucleic Acids Res Jan. 1, 2006
Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Maccarrone G, Dias-Neto E, Turck CW Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. Eur Arch Psychiatry Clin Neurosci April 1, 2009
Burkovics P, Hajdu I, Szukacsov V, Unk I, Haracska L Role of PCNA-dependent stimulation of 3'-phosphodiesterase and 3'-5' exonuclease activities of human Ape2 in repair of oxidative DNA damage. Nucleic Acids Res July 1, 2009
Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF Variation within DNA repair pathway genes and risk of multiple sclerosis. Am J Epidemiol July 15, 2010

Last modification of this entry: Oct. 6, 2010.

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