• Gene id: 27301

Gene Summary

• Gene Symbol: APEX2   Gene   UCSC   Ensembl
• Aliases: APE2, APEXL2, XTH2, ZGRF2
• Gene name: apurinic/apyrimidinic endodeoxyribonuclease 2
• Alternate names: DNA-(apurinic or apyrimidinic site) lyase 2, AP endonuclease 2, AP endonuclease XTH2, APEX nuclease (apurinic/apyrimidinic endonuclease) 2, apurinic/apyrimidinic endonuclease-like 2, zinc finger, GRF-type containing 2,
• Gene location: Xp11.21 (55000362: 55009056)     Exons: 6     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300773

Protein Summary

• Protein general information: Q9UBZ4  
  • Name: DNA (apurinic or apyrimidinic site) lyase 2 (EC 3.1. . ) (EC 4.2.99.18) (AP endonuclease XTH2) (APEX nuclease 2) (APEX nuclease like 2) (Apurinic apyrimidinic endonuclease 2) (AP endonuclease 2)
  • Length: 518  
  • Mass: 57401
  • Tissue specificity: Highly expressed in brain and kidney. Weakly expressed in the fetal brain. {ECO
• Sequence:

  MLRVVSWNINGIRRPLQGVANQEPSNCAAVAVGRILDELDADIVCLQETKVTRDALTEPLAIVEGYNSYFSFSRN
  RSGYSGVATFCKDNATPVAAEEGLSGLFATQNGDVGCYGNMDEFTQEELRALDSEGRALLTQHKIRTWEGKEKTL
  TLINVYCPHADPGRPERLVFKMRFYRLLQIRAEALLAAGSHVIILGDLNTAHRPIDHWDAVNLECFEEDPGRKWM
  DSLLSNLGCQSASHVGPFIDSYRCFQPKQEGAFTCWSAVTGARHLNYGSRLDYVLGDRTLVIDTFQASFLLPEVM
  GSDHCPVGAVLSVSSVPAKQCPPLCTRFLPEFAGTQLKILRFLVPLEQSPVLEQSTLQHNNQTRVQTCQNKAQVR
  STRPQPSQVGSSRGQKNLKSYFQPSPSCPQASPDIELPSLPLMSALMTPKTPEEKAVAKVVKGQAKTSEAKDEKE
  LRTSFWKSVLAGPLRTPLCGGHREPCVMRTVKKPGPNLGRRFYMCARPRGPPTDPSSRCNFFLWSRPS

• Structural information:
  • Interpro: IPR004808  IPR020847  IPR036691  IPR005135  IPR010666  
  • Prosite: PS00726 PS51435
  • STRING: ENSP00000364126
• Other Databases: GeneCards:  APEX2  Malacards:  APEX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	molecular function
GO:0004528	phosphodiesterase I activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008311	double-stranded DNA 3'-5' exodeoxyribonuclease activity	IBA	molecular function
GO:0006284	base-excision repair	IBA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03410	Base excision repair

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881