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.^[4]^[5] 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.^[4]

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.^[6]^[7] 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.^[7]

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.

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Medical Significance

See also

References