Tyrosine–tRNA ligase, mitochondrial

YARS2
Identifiers
Aliases	YARS2, MLASA2, MT-TYRRS, TYRRS, CGI-04, tyrosyl-tRNA synthetase 2
External IDs	OMIM: 610957; MGI: 1917370; GeneCards: YARS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2PID, 3ZXI
Enzyme activity
Gene location (Human)
Chr.	Chromosome 12 (human)
End	32,755,897 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	16,127,504 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; endothelial cell; ; gonad; ; mucosa of transverse colon; ; ventricular zone; ; endometrium; ; gingival epithelium; ; right adrenal cortex; ; stromal cell of endometrium;
	Top expressed in
	epiblast; ; embryo; ; embryo; ; right kidney; ; proximal tubule; ; hand; ; muscle of thigh; ; endocardial cushion; ; migratory enteric neural crest cell; ; tail of embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; tRNA binding; nucleotide binding; tyrosine binding; ligase activity; protein binding; ATP binding; protein homodimerization activity; tyrosine-tRNA ligase activity; RNA binding;
Cellular component	cytoplasm; cytosol; mitochondrial matrix; mitochondrion; nuclear body;
Biological process	tyrosyl-tRNA aminoacylation; tRNA aminoacylation; tRNA aminoacylation for protein translation; protein biosynthesis; mitochondrial tyrosyl-tRNA aminoacylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	51067
	70120
	ENSG00000139131
	ENSMUSG00000022792
	Q9Y2Z4
	Q8BYL4
	NM_001040436; NM_015936
	NM_198246
	NP_001035526
	NP_937889
	Wikidata
View/Edit Human	View/Edit Mouse

Tyrosine–tRNA ligase, mitochondrial, also known as tyrosyl-tRNA synthetase 2, is an enzyme that in humans is encoded by the YARS2 gene. This enzyme is an aminoacyl tRNA synthetase which functions to attach the amino acid tyrosine to its corresponding transfer RNA (tRNA^Tyr) as part of RNA-to-protein translation. It is part of the class-I aminoacyl-tRNA synthetase family.

Medical significance

Pathogenic mutations in YARS2 are associated with mitochondrial dysfunction whose severity varies from individual to individual. Some of those affected have heart and cardiovascular issues from infancy, and die young, while others instead experience sideroblastic anemia and mild muscle weakness in early adulthood. This syndrome is called myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2), and appears to follow an autosomal dominant inheritance pattern. Unlike mutations in many other mitochondrial aminoacyl-tRNA synthetases, it rarely affects the brain and spinal cord.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000139131 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022792 – 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 "YARS2 tyrosyl-tRNA synthetase 2". Entrez Gene. NCBI. Retrieved 2026-10-01.
1 2 "Tyrosine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-10-01.
1 2 3 Kniffin CL (2024-04-10). "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2". Online Mendelian Inheritance in Man. Johns Hopkins University.
↑ Zou Y, Yang Y, Fu X, He X, Liu M, Zong T, Li X, Aung LH, Wang Z, Yu T (2021-10-03). "The regulatory roles of aminoacyl-tRNA synthetase in cardiovascular disease". Molecular Therapy Nucleic Acids. 25: 372–87. doi:10.1016/j.omtn.2021.06.003. PMC 8399643. PMID 34484863.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000139131 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022792 – 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 "YARS2 tyrosyl-tRNA synthetase 2". Entrez Gene. NCBI. Retrieved 2026-10-01.

[uniprot-6] 1 2 "Tyrosine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-10-01.

[omim-7] 1 2 3 Kniffin CL (2024-04-10). "MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2". Online Mendelian Inheritance in Man. Johns Hopkins University.

[8] Zou Y, Yang Y, Fu X, He X, Liu M, Zong T, Li X, Aung LH, Wang Z, Yu T (2021-10-03). "The regulatory roles of aminoacyl-tRNA synthetase in cardiovascular disease". Molecular Therapy Nucleic Acids. 25: 372–87. doi:10.1016/j.omtn.2021.06.003. PMC 8399643. PMID 34484863.

Tyrosine–tRNA ligase, mitochondrial

Medical significance

See also

References