AARS2

Alanyl-tRNA synthetase 2, mitochondrial
Identifiers
Symbols	AARS2 ; AARSL; COXPD8; LKENP; MT-ALARS; MTALARS
External IDs	OMIM: 612035 MGI: 2681839 HomoloGene: 56897 GeneCards: AARS2 Gene
EC number	6.1.1.7
Gene ontology Molecular function • tRNA binding • alanine-tRNA ligase activity • ATP binding • zinc ion binding Cellular component • mitochondrion Biological process • tRNA aminoacylation for protein translation • gene expression • mitochondrial respiratory chain complex assembly • mitochondrial alanyl-tRNA aminoacylation Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57505	224805
Ensembl	ENSG00000124608	ENSMUSG00000023938
UniProt	Q5JTZ9	Q14CH7
RefSeq (mRNA)	NM_020745	NM_198608
RefSeq (protein)	NP_065796	NP_941010
Location (UCSC)	Chr 6: 44.3 – 44.31 Mb	Chr 17: 45.51 – 45.52 Mb
PubMed search

Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.^[1][2]

Clinical relevance

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.^[3]

References

1. "Entrez Gene: alanyl-tRNA synthetase 2".
2. Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M (March 2005). "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS". Biochemistry 44 (12): 4805–16. doi:10.1021/bi047527z. PMID 15779907.
3. G?tz A, Tyynismaa H, Euro L, Ellonen P, Hy?tyl?inen T, Ojala T, H?m?l?inen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A (May 2011). "Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy". Am J Hum Genet 88 (5): 635–42. doi:10.1016/j.ajhg.2011.04.006. PMC 3146718. PMID 21549344.

Further reading

• Nakayama M, Kikuno R, Ohara O (2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• 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.
• Mammalian Gene Collection Program Team; Strausberg, R. L.; Feingold, E. A.; Grouse, L. H.; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nagase T, Ishikawa K, Kikuno R; et al. (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
• Hendrickson SL, Lautenberger JA, Chinn LW; et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.". PLoS ONE 5 (9): e12862. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
• Bonnefond L, Fender A, Rudinger-Thirion J; et al. (2005). "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.". Biochemistry 44 (12): 4805–16. doi:10.1021/bi047527z. PMID 15779907.
• Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.

External links

• AARS2 human gene location in the UCSC Genome Browser.
• AARS2 human gene details in the UCSC Genome Browser.