AARS2

AARS2
Identifiers
Aliases	AARS2, AARSL, COXPD8, LKENP, MT-ALARS, MTALARS, alanyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 612035; MGI: 2681839; HomoloGene: 56897; GeneCards: AARS2; OMA:AARS2 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	44,313,347 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	45,831,769 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; pancreatic ductal cell; ; nipple; ; skin of arm; ; cerebellar vermis; ; vena cava; ; mucosa of ileum; ; endothelial cell; ; vulva; ; pylorus;
	Top expressed in
	otolith organ; ; utricle; ; hand; ; seminiferous tubule; ; spermatocyte; ; epiblast; ; foot; ; quadriceps femoris muscle; ; right kidney; ; knee joint;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; amino acid binding; tRNA binding; metal ion binding; ligase activity; RNA binding; nucleic acid binding; alanine-tRNA ligase activity; ATP binding; zinc ion binding; aminoacyl-tRNA editing activity;
Cellular component	cytoplasm; mitochondrion;
Biological process	tRNA aminoacylation; protein biosynthesis; alanyl-tRNA aminoacylation; tRNA modification; mitochondrial alanyl-tRNA aminoacylation; mitochondrial respiratory chain complex assembly; aminoacyl-tRNA metabolism involved in translational fidelity;
	Sources:Amigo / QuickGO
Orthologs
	57505
	224805
	ENSG00000124608
	ENSMUSG00000023938
	Q5JTZ9
	Q14CH7
	NM_020745
	NM_198608; NM_001358000
	NP_065796
	NP_941010; NP_001344929
	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.^[5]^[6]

Clinical relevance

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.^[7] Progressive leukoencephalopathy with Ovarian Failure (LKENP).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124608 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023938 – 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.
^ "Entrez Gene: alanyl-tRNA synthetase 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.
^ 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.

External links

AARS2 human gene location in the UCSC Genome Browser.
AARS2 human gene details in the UCSC Genome Browser.
CureARS non profit organisation supporting families affected by ARS mutations, including AARS2.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000124608 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000023938 – 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.

[entrez-5] "Entrez Gene: alanyl-tRNA synthetase 2".

[pmid15779907-6] 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.

[pmid21549344-7] 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.

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v t e Enzymes: CO CS and CN ligases (EC 6.1-6.3)
6.1: Carbon-Oxygen	Aminoacyl tRNA synthetase Alanine Arginine Asparagine Aspartate Cysteine D-alanine—poly(phosphoribitol) ligase Glutamate Glutamine Glycine Histidine Isoleucine Leucine Lysine Methionine Phenylalanine Proline Serine Threonine Tryptophan Tyrosine Valine
6.2: Carbon-Sulfur	Succinyl coenzyme A synthetase Acetyl—CoA synthetase Long-chain-fatty-acid—CoA ligase
6.3: Carbon-Nitrogen	Glutamine synthetase Ubiquitin ligase Cullin Von Hippel–Lindau tumor suppressor UBE3A Mdm2 Anaphase-promoting complex UBR1 Glutathione synthetase CTP synthetase Adenylosuccinate synthase Argininosuccinate synthase Holocarboxylase synthetase GMP synthase Asparagine synthetase Carbamoyl phosphate synthetase I II Glutamate–cysteine ligase

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

Clinical relevance

References

Further reading

External links