Isoleucine–tRNA ligase, mitochondrial

IARS2
Identifiers
Aliases	IARS2, ILERS, CAGSSS, isoleucyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 612801; MGI: 1919586; GeneCards: IARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 1 (human)
End	220,148,041 bp
RNA expression pattern
	Top expressed in
	thoracic diaphragm; ; parietal pleura; ; Skeletal muscle tissue of biceps brachii; ; bronchial epithelial cell; ; myocardium of left ventricle; ; right ventricle; ; vastus lateralis muscle; ; epithelium of nasopharynx; ; tendon of biceps brachii; ; mucosa of sigmoid colon;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; ligase activity; ATP binding; aminoacyl-tRNA editing activity; tRNA binding; isoleucine-tRNA ligase activity;
Cellular component	mitochondrial matrix; cytoplasm; mitochondrion; cytosol;
Biological process	tRNA aminoacylation for protein translation; protein biosynthesis; isoleucyl-tRNA aminoacylation; aminoacyl-tRNA metabolism involved in translational fidelity; mitochondrial translation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	55699
	381314
	ENSG00000067704
	n/a
	Q9NSE4
	Q8BIJ6
	NM_018060
	NM_198653
	NP_060530
	NP_941055
	Wikidata
View/Edit Human	View/Edit Mouse

Isoleucine–tRNA ligase, mitochondrial, also called isoleucyl-tRNA synthetase 2, is an enzyme that in humans is encoded by the IARS2 gene. Like the analogous cytoplasmic enzyme, IARS1, this isoleucine–tRNA ligase functions to attach the amino acid isoleucine to the corresponding transfer RNA (tRNA^Ile) in preparation of RNA-to-protein translation.

Medical Significance

Pathogenic mutations in IARS2 are associated with heterogeneous symptoms, which may include cataracts, hearing loss, atypical skeletal features, and deficiencies in growth hormone. This disorder has been named cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS), and is inherited in an autosomal dominant fashion.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000067704 – 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 "IARS2 isoleucyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.
↑ "Isoleucine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.
↑ Watanabe M, Sasaki N (2024-07-08). "Mechanisms and future research perspectives on mitochondrial diseases associated with isoleucyl-tRNA synthetase gene mutations". Genes. 15 (7): 894. doi:10.3390/genes15070894.
1 2 "CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000067704 – Ensembl, May 2017

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

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

[entrez-4] 1 2 "IARS2 isoleucyl-tRNA synthetase 2, mitochondrial". Entrez Gene. NCBI. Retrieved 2026-09-29.

[uniprot-5] "Isoleucine--tRNA ligase, mitochondrial". uniprot.org. UniProt consortium. Retrieved 2026-09-29.

[6] Watanabe M, Sasaki N (2024-07-08). "Mechanisms and future research perspectives on mitochondrial diseases associated with isoleucyl-tRNA synthetase gene mutations". Genes. 15 (7): 894. doi:10.3390/genes15070894.

[omim-7] 1 2 "CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS". Online Mendelian Inheritance in Man. Johns Hopkins university. Retrieved 2026-09-29.

Isoleucine–tRNA ligase, mitochondrial

Medical Significance

See also

References