• Gene id: 197342

Gene Summary

• Gene Symbol: EME2   Gene   UCSC   Ensembl
• Aliases: SLX2B, gs125
• Gene name: essential meiotic structure-specific endonuclease subunit 2
• Alternate names: probable crossover junction endonuclease EME2, SLX2 structure-specific endonuclease subunit homolog B, essential meiotic endonuclease 1 homolog 2, homolog of yeast EME1 endonuclease 2,
• Gene location: 16p13.3 (1773221: 1776713)     Exons: 8     NC_000016.10
• Gene summary(Entrez): EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
• OMIM: 151445

Protein Summary

• Protein general information: A4GXA9  
  • Name: Probable crossover junction endonuclease EME2 (EC 3.1.22. )
  • Length: 379  
  • Mass: 41178
• Sequence:

  MARVGPGRAGVSCQGRGRGRGGSGQRRPPTWEISDSDAEDSAGSEAAARARDPAGERRAAAEALRLLRPEQVLKR
  LAVCVDTAILEDAGADVLMEALEALGCECRIEPQRPARSLRWTRASPDPCPRSLPPEVWAAGEQELLLLLEPEEF
  LQGVATLTQISGPTHWVPWISPETTARPHLAVIGLDAYLWSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVL
  LQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQF
  SRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLL
  DLGS

• Structural information:
  • Interpro: IPR042530  IPR006166  IPR033310  
  • STRING: ENSP00000457353
• Other Databases: GeneCards:  EME2  Malacards:  EME2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000712	resolution of meiotic recombination intermediates	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0006302	double-strand break repair	IBA	biological process
GO:0031573	intra-S DNA damage checkpoint	IBA	biological process
GO:0031297	replication fork processing	IBA	biological process
GO:0048476	Holliday junction resolvase complex	IBA	cellular component
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0048476	Holliday junction resolvase complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	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

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq