EARS2

EARS2
Identifiers
Aliases	EARS2, COXPD12, MSE1, gluRS, glutamyl-tRNA synthetase 2, mitochondrial, mtGlnRS
External IDs	OMIM: 612799; MGI: 1914667; GeneCards: EARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 16 (human)
End	23,557,731 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	121,666,486 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; gonad; ; right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; apex of heart; ; left adrenal cortex; ; left ventricle; ; rectum; ; gastrocnemius muscle;
	Top expressed in
	atrioventricular valve; ; proximal tubule; ; endocardial cushion; ; right kidney; ; epiblast; ; tail of embryo; ; ventricular zone; ; embryo; ; ventricle of the heart; ; Rostral migratory stream;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; tRNA binding; nucleotide binding; ligase activity; glutamate-tRNA ligase activity; ATP binding; glutamate-tRNA(Gln) ligase activity; zinc ion binding; RNA binding;
Cellular component	cytoplasm; mitochondrial matrix; mitochondrion;
Biological process	tRNA aminoacylation for mitochondrial protein translation; tRNA aminoacylation; protein biosynthesis; glutamyl-tRNA aminoacylation; tRNA aminoacylation for protein translation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	124454
	67417
	ENSG00000103356
	ENSMUSG00000030871
	Q5JPH6
	Q9CXJ1
	NM_001083614; NM_001308211
	NM_026140
	NP_001077083; NP_001295140
	NP_080416
	Wikidata
View/Edit Human	View/Edit Mouse

Glutamyl-tRNA synthetase 2, mitochondrial is an enzyme that in humans is encoded by the EARS2 gene. The enzyme EARS2 functions as part of the processes that incorporate the amino acids glutamate and glutamine into proteins during mitochondrial protein synthesis.

Function

This non-discriminating enzyme functions to attach glutamate either to its corresponding transfer RNA, tRNA^Glu, or to glutamine's, tRNA^Gln. In the case of glutamate being mischarged to tRNA^Gln, the glutamate is converted into a glutamine by the enzyme Glu-tRNA^Gln amidotransferase (EC 6.3.5.7) before it can be incorporated into a protein during RNA-to-protein translation.

Medical Significance

Pathogenic (homozygous or compound heterozygous) mutations in EARS2 are associated with dysfunction in the mitochondria, leading to severe muscle and neurological symptoms, called combined oxidative phosphorylation deficiency-12 (COXPD12).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000103356 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030871 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "EARS2 glutamyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.
1 2 "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.
↑ EC 6.1.1.24
↑ "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000103356 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030871 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "EARS2 glutamyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.

[uniprot-6] 1 2 "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.

[7] EC 6.1.1.24

[8] "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

EARS2

Function

Medical Significance

See also

References