• Gene id: 84520

Gene Summary

• Gene Symbol: GON7   Gene   UCSC   Ensembl
• Aliases: C14orf142, PNAS-127
• Gene name: GON7 subunit of KEOPS complex
• Alternate names: EKC/KEOPS complex subunit GON7, GON7, KEOPS complex subunit homolog, uncharacterized protein C14orf142,
• Gene location: 14q32.12 (28823047: 28837236)     Exons: 24     NC_000016.10
• OMIM: 617436

Protein Summary

• Protein general information: Q9BXV9  
  • Name: EKC/KEOPS complex subunit GON7
  • Length: 100  
  • Mass: 10859
• Sequence:

  MELLGEYVGQEGKPQKLRVSCEAPGDGDPFQGLLSGVAQMKDMVTELFDPLVQGEVQHRVAAAPDEDLDGDDEDD
  AEDENNIDNRTNFDGPSAKRPKTPS

• Structural information:
  • Interpro: IPR027893  
  • PDB: 6GWJ
  • PDBsum: 6GWJ
  • STRING: ENSP00000306320
• Other Databases: GeneCards:  GON7  Malacards:  GON7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000408	EKC/KEOPS complex	IBA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000408	EKC/KEOPS complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
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)