Methionine–tRNA ligase, mitochondrial

MARS2
Identifiers
Aliases	MARS2, MetRS, mtMetRS, COXPD25, methionyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 609728; MGI: 2444136; GeneCards: MARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 2 (human)
End	197,708,395 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	55,287,629 bp
RNA expression pattern
	Top expressed in
	gonad; ; tibialis anterior muscle; ; mucosa of ileum; ; testicle; ; pancreatic ductal cell; ; islet of Langerhans; ; mucosa of transverse colon; ; secondary oocyte; ; gastrocnemius muscle; ; right adrenal cortex;
	Top expressed in
	spermatocyte; ; spermatid; ; ventricular zone; ; tail of embryo; ; dentate gyrus of hippocampal formation granule cell; ; embryo; ; muscle of thigh; ; neural layer of retina; ; lumbar spinal ganglion; ; yolk sac;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; ligase activity; ATP binding; nucleotide binding; methionine-tRNA ligase activity;
Cellular component	mitochondrial matrix; mitochondrion; cytoplasm;
Biological process	tRNA aminoacylation for protein translation; methionyl-tRNA aminoacylation; protein biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	92935
	212679
	ENSG00000247626
	ENSMUSG00000046994
	Q96GW9
	Q499X9
	NM_138395
	NM_175439
	NP_612404
	NP_780648
	Wikidata
View/Edit Human	View/Edit Mouse

Methionine–tRNA ligase, mitochondrial, also called methionyl-tRNA synthetase 2, is an enzyme that in humans is encoded by the MARS2 gene. This enzyme functions as a methionine–tRNA ligase, which means it binds the amino acid methionine to its corresponding transfer RNA (tRNA^Met), which is part of RNA-to-protein translation.

Medical Significance

Pathogenic mutations in MARS2 are associated with problems with muscle coordination, and in particular a type of ataxia called autosomal recessive spastic ataxia-3 (SPAX3).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000247626 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046994 – 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 "MARS2 methionyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.
↑ "Methionine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.
↑ Gomez MA, Ibba M (2020-04-17). "Aminoacyl-tRNA synthetases". Rna. doi:10.1261/rna.071720.119. PMC 7373986.
↑ Diodato D, Ghezzi D, Tiranti V (2014). "The mitochondrial aminoacyl tRNA synthetases: genes and syndromes". International journal of cell biology. 2014 (1). doi:10.1155/2014/787956. PMC 3932222.
↑ "SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000247626 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046994 – 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 "MARS2 methionyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.

[uniprot-6] "Methionine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.

[7] Gomez MA, Ibba M (2020-04-17). "Aminoacyl-tRNA synthetases". Rna. doi:10.1261/rna.071720.119. PMC 7373986.

[8] Diodato D, Ghezzi D, Tiranti V (2014). "The mitochondrial aminoacyl tRNA synthetases: genes and syndromes". International journal of cell biology. 2014 (1). doi:10.1155/2014/787956. PMC 3932222.

[omim-9] "SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

Methionine–tRNA ligase, mitochondrial

Medical Significance

See also

References