Histidine–tRNA ligase, mitochondrial

HARS2
Identifiers
Aliases	HARS2, HARSL, HARSR, HO3, PRLTS2, histidyl-tRNA synthetase 2, mitochondrial, HisRS
External IDs	OMIM: 600783; MGI: 1918041; GeneCards: HARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 5 (human)
End	140,699,305 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	36,925,615 bp
RNA expression pattern
	Top expressed in
	cerebellar hemisphere; ; right hemisphere of cerebellum; ; apex of heart; ; granulocyte; ; mucosa of transverse colon; ; right adrenal cortex; ; rectum; ; right uterine tube; ; body of uterus; ; right ovary;
	Top expressed in
	neural layer of retina; ; ventricular zone; ; spermatocyte; ; superior frontal gyrus; ; right kidney; ; primary visual cortex; ; granulocyte; ; thymus; ; proximal tubule; ; cerebellar cortex;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; ligase activity; protein binding; ATP binding; protein homodimerization activity; histidine-tRNA ligase activity; RNA binding; identical protein binding;
Cellular component	cytoplasm; mitochondrial matrix; mitochondrion; cytosol;
Biological process	protein biosynthesis; histidyl-tRNA aminoacylation; mitochondrial translation; tRNA aminoacylation for protein translation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	23438
	70791
	ENSG00000112855
	ENSMUSG00000019143
	P49590
	Q99KK9
	NM_001278731; NM_001278732; NM_012208; NM_001363535; NM_001363536
	NM_080636; NM_001305627; NM_001360921
	NP_001265660; NP_001265661; NP_036340; NP_001350464; NP_001350465
	NP_001292556; NP_542367; NP_001347850
	Wikidata
View/Edit Human	View/Edit Mouse

Histidine–tRNA ligase, mitochondrial is an enzyme that in humans is encoded by the HARS2 gene. This enzyme is a Histidine–tRNA ligase, meaning it attaches the amino acid histidine to the corresponding transfer RNA (tRNA^His), as part of RNA-to-protein translation.

Function

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes share a bidirectional promoter.

Medical signifiance

Pathogenic mutations in HARS2 are the cause of type 2 perrault syndrome (PRLTS2), which is associated with deafness, and in 46XX individuals, a failure of the ovaries to develop (leading to streak gonads).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000112855 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019143 – 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.
↑ O'Hanlon TP, Raben N, Miller FW (Jun 1995). "A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS". Biochem Biophys Res Commun. 210 (2): 556–66. doi:10.1006/bbrc.1995.1696. PMID 7755634.
1 2 3 "Entrez Gene: HARS2 histidyl-tRNA synthetase 2, mitochondrial (putative)".
↑ "USHER SYNDROME, TYPE IIIB; USH3B". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Freist W, Verhey JF, Rühlmann A, et al. (1999). "Histidyl-tRNA synthetase". Biol. Chem. 380 (6): 623–46. doi:10.1515/BC.1999.079. PMID 10430027.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Lama J, Trono D (1998). "Human immunodeficiency virus type 1 matrix protein interacts with cellular protein HO3". J. Virol. 72 (2): 1671–6. doi:10.1128/JVI.72.2.1671-1676.1998. PMC 124654. PMID 9445076.
Tsui HW, Mok S, de Souza L, et al. (1993). "Transcriptional analyses of the gene region that encodes human histidyl-tRNA synthetase: identification of a novel bidirectional regulatory element". Gene. 131 (2): 201–8. doi:10.1016/0378-1119(93)90294-D. PMID 8406012.
Raben N, Borriello F, Amin J, et al. (1992). "Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases". Nucleic Acids Res. 20 (5): 1075–81. doi:10.1093/nar/20.5.1075. PMC 312093. PMID 1549469.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000112855 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019143 – 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.

[pmid7755634-5] O'Hanlon TP, Raben N, Miller FW (Jun 1995). "A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS". Biochem Biophys Res Commun. 210 (2): 556–66. doi:10.1006/bbrc.1995.1696. PMID 7755634.

[entrez-6] 1 2 3 "Entrez Gene: HARS2 histidyl-tRNA synthetase 2, mitochondrial (putative)".

[omim-7] "USHER SYNDROME, TYPE IIIB; USH3B". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Histidine–tRNA ligase, mitochondrial

Function

Medical signifiance

See also

References

Further reading