• Gene id: 8270

Gene Summary

• Gene Symbol: LAGE3   Gene   UCSC   Ensembl
• Aliases: CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1
• Gene name: L antigen family member 3
• Alternate names: EKC/KEOPS complex subunit LAGE3, protein ESO-3,
• Gene location: Xq28 (154479256: 154477768)     Exons: 16     NC_000023.11
• Gene summary(Entrez): This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range o
• OMIM: 300060

Protein Summary

• Protein general information: Q14657  
  • Name: EKC/KEOPS complex subunit LAGE3 (L antigen family member 3) (Protein ESO 3) (Protein ITBA2)
  • Length: 143  
  • Mass: 14804
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRPHIFTLSVPFPTPLEA
  EIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISVINFLDQLSLVVRTMQRFGPPVSR

• Structural information:
  • Interpro: IPR015419  
  • PDB: 6GWJ
  • PDBsum: 6GWJ
  • STRING: ENSP00000349923
• Other Databases: GeneCards:  LAGE3  Malacards:  LAGE3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070525	tRNA threonylcarbamoyladenosine metabolic process	IBA	biological process
GO:0000408	EKC/KEOPS complex	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Galloway-Mowat syndrome	KEGG:H01722
Galloway-Mowat syndrome	KEGG:H01722
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R