• Gene id: 124454

Gene Summary

• Gene Symbol: EARS2   Gene   UCSC   Ensembl
• Aliases: COXPD12, MSE1, gluRS, mtGlnRS
• Gene name: glutamyl-tRNA synthetase 2, mitochondrial
• Alternate names: probable glutamate--tRNA ligase, mitochondrial, glutamate tRNA ligase 2, mitochondrial, glutamate--tRNA ligase, probable glutamyl-tRNA synthetase, mitochondrial,
• Gene location: 16p12.2 (23557374: 23520753)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be

Protein Summary

• Protein general information: Q5JPH6  
  • Name: Probable glutamate tRNA ligase, mitochondrial (EC 6.1.1.17) (Glutamyl tRNA synthetase) (GluRS)
  • Length: 523  
  • Mass: 58689
• Sequence:

  MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRL
  EDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELL
  KKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGF
  PTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAAD
  GFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGK
  LQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVL
  GLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS

• Structural information:
  • Interpro: IPR008925  IPR020751  IPR001412  IPR004527  IPR000924   IPR020058  IPR033910  IPR014729  
  • Prosite: PS00178
  • CDD: cd00808
  • STRING: ENSP00000395196
• Other Databases: GeneCards:  EARS2  Malacards:  EARS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004818	glutamate-tRNA ligase activity	IBA	molecular function
GO:0006424	glutamyl-tRNA aminoacylation	IBA	biological process
GO:0006424	glutamyl-tRNA aminoacylation	IDA	biological process
GO:0004818	glutamate-tRNA ligase activity	IDA	molecular function
GO:0070127	tRNA aminoacylation for mitochondrial protein translation	IDA	biological process
GO:0050561	glutamate-tRNA(Gln) ligase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0000049	tRNA binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004818	glutamate-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0006424	glutamyl-tRNA aminoacylation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043039	tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004818	glutamate-tRNA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00970	Aminoacyl-tRNA biosynthesis
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
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