Asparagine–tRNA ligase, mitochondrial

NARS2
Identifiers
Aliases	NARS2, SLM5, asnRS, DFNB94, asparaginyl-tRNA synthetase 2, mitochondrial (putative), asparaginyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 612803; MGI: 2142075; GeneCards: NARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 11 (human)
End	78,574,874 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	96,713,965 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; Skeletal muscle tissue of biceps brachii; ; gonad; ; vastus lateralis muscle; ; ventricular zone; ; retinal pigment epithelium; ; embryo; ; ganglionic eminence; ; deltoid muscle; ; thoracic diaphragm;
	Top expressed in
	right kidney; ; Paneth cell; ; trigeminal ganglion; ; tail of embryo; ; spermatocyte; ; left lobe of liver; ; facial motor nucleus; ; spermatid; ; ventricular zone; ; superior cervical ganglion;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; ligase activity; asparagine-tRNA ligase activity; ATP binding; nucleic acid binding;
Cellular component	cytoplasm; mitochondrial matrix; mitochondrion; nucleoplasm; cytosol;
Biological process	protein biosynthesis; asparaginyl-tRNA aminoacylation; tRNA aminoacylation for protein translation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	79731
	244141
	ENSG00000137513
	ENSMUSG00000018995
	Q96I59
	Q8BGV0
	NM_001243251; NM_024678
	NM_153591
	NP_001230180; NP_078954
	NP_705819
	Wikidata
View/Edit Human	View/Edit Mouse

Asparagine–tRNA ligase, mitochondrial, also called asparaginyl-tRNA synthetase 2, is an enzyme that in humans is encoded by the NARS2 gene. Like its cytoplasmic relative, NARS1, this enzyme is an asparagine–tRNA ligase which functions to attach the amino acid asparagine to its corresponding transfer RNA (denoted tRNA^Asn), whose product is part of RNA-to-protein translation.

Medical Significance

Pathogenic variants in the gene NARS2 are associated with mitochondrial dysfunction, called combined oxidative phosphorylation deficiency-24 (COXPD24). Symptoms vary significantly between people, but often start in infancy, and include nervous system issues such as seizures, hearing impairment, and low muscle tone (hypotonia). People with more severe symptoms may have brain abnormalities that are visible on imaging and consistent with Leigh syndrome. Inheritance seems to follow an autosomal recessive pattern. Other symptoms in those with pathogenic mutations have also been reported, including neonatal diabetes and isolated deafness.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000137513 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018995 – 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.
↑ "NARS2 asparaginyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-10-02.
1 2 "Asparaginyl-tRNA synthetase". uniprot.org. UniProt consortium. Retrieved 2026-10-02.
↑ Gomez MA, Ibba M (2020-04-17). "Aminoacyl-tRNA synthetases". RNA. 26 (8): 910–936. doi:10.1261/rna.071720.119. PMC 7373986. PMID 32303649.
1 2 3 4 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.
↑ Barbetti F, Deeb A, Suzuki S (December 2024). "Neonatal diabetes mellitus around the world: update 2024". Journal of Diabetes Investigation. 15 (12): 1711–24. doi:10.1111/jdi.14312. PMC 11615689. PMID 39344692.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000137513 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018995 – 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] "NARS2 asparaginyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-10-02.

[uniprot-6] 1 2 "Asparaginyl-tRNA synthetase". uniprot.org. UniProt consortium. Retrieved 2026-10-02.

[7] Gomez MA, Ibba M (2020-04-17). "Aminoacyl-tRNA synthetases". RNA. 26 (8): 910–936. doi:10.1261/rna.071720.119. PMC 7373986. PMID 32303649.

[omim-8] 1 2 3 4 "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

[9] Barbetti F, Deeb A, Suzuki S (December 2024). "Neonatal diabetes mellitus around the world: update 2024". Journal of Diabetes Investigation. 15 (12): 1711–24. doi:10.1111/jdi.14312. PMC 11615689. PMID 39344692.

Asparagine–tRNA ligase, mitochondrial

Medical Significance

See also

References