• Gene id: 399818

Gene Summary

• Gene Symbol: EEF1AKMT2   Gene   UCSC   Ensembl
• Aliases: C10orf138, Efm4, METTL10
• Gene name: EEF1A lysine methyltransferase 2
• Alternate names: EEF1A lysine methyltransferase 2, eukaryotic translation elongation factor 1 alpha lysine methyltransferase 2, methyltransferase like 10, methyltransferase-like protein 10, protein-lysine N-methyltransferase METTL10,
• Gene location: 10q26.13 (124791886: 124757833)     Exons: 7     NC_000010.11
• OMIM: 615965

Protein Summary

• Protein general information: Q5JPI9  
  • Name: EEF1A lysine methyltransferase 2 (EC 2.1.1. ) (Methyltransferase like protein 10) (Protein lysine N methyltransferase METTL10)
  • Length: 291  
  • Mass: 31830
• Sequence:

  MSSGADGGGGAAVAARSDKGSPGEDGFVPSALGTREHWDAVYERELQTFREYGDTGEIWFGEESMNRLIRWMQKH
  KIPLDASVLDIGTGNGVFLVELAKFGFSNITGIDYSPSAIQLSGSIIEKEGLSNIKLKVEDFLNLSTQLSGFHIC
  IDKGTFDAISLNPDNAIEKRKQYVKSLSRVLKVKGFFLITSCNWTKEELLNEFSEGWSTVAGFWLTAALTSWAQA
  IFSTSASRVGGTTGTHHHAWIIFVFLAETRFCHVVQAGLELLGSSDSPTWPPKVLGLYHARPSLAF

• Structural information:
  • Interpro: IPR026635  IPR025714  IPR029063  
  • STRING: ENSP00000357829
• Other Databases: GeneCards:  EEF1AKMT2  Malacards:  EEF1AKMT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018027	peptidyl-lysine dimethylation	IBA	biological process
GO:0018026	peptidyl-lysine monomethylation	IBA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0008168	methyltransferase activity	IDA	molecular function
GO:0018022	peptidyl-lysine methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006479	protein methylation	TAS	biological process
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0018022	peptidyl-lysine methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray