AARS2

AARS2
Identifiers
Aliases	AARS2, AARSL, COXPD8, LKENP, MT-ALARS, MTALARS, alanyl-tRNA synthetase 2, mitochondrial
External IDs	MGI: 2681839 HomoloGene: 56897 GeneCards: AARS2
Gene ontology Molecular function • aminoacyl-tRNA ligase activity • nucleotide binding • ligase activity, forming aminoacyl-tRNA and related compounds • amino acid binding • tRNA binding • metal ion binding • ligase activity • RNA binding • nucleic acid binding • alanine-tRNA ligase activity • ATP binding • zinc ion binding Cellular component • cytoplasm • cytosol • mitochondrion Biological process • tRNA aminoacylation • translation • alanyl-tRNA aminoacylation • tRNA modification • mitochondrial alanyl-tRNA aminoacylation • mitochondrial respiratory chain complex assembly 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_065796.1	NP_941010.2
Location (UCSC)	Chr 6: 44.3 – 44.31 Mb	Chr 17: 45.51 – 45.52 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

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.^[3][4]

Clinical relevance

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: alanyl-tRNA synthetase 2".
4. 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.
5. Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen 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". American Journal of Human Genetics. 88 (5): 635–42. doi:10.1016/j.ajhg.2011.04.006. PMC 3146718. PMID 21549344.

Further reading

• Nakayama M, Kikuno R, Ohara O (November 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (October 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 Research. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
• Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (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, 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.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 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.