WARS2

WARS2
Identifiers
Aliases	WARS2, TrpRS, tryptophanyl tRNA synthetase 2, mitochondrial, NEMMLAS, mtTrpRS, PKDYS3
External IDs	OMIM: 604733; MGI: 1917810; HomoloGene: 5673; GeneCards: WARS2; OMA:WARS2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	119,140,654 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	99,146,502 bp
RNA expression pattern
	Top expressed in
	gonad; ; bronchial epithelial cell; ; Achilles tendon; ; testicle; ; parietal pleura; ; right adrenal cortex; ; tibia; ; left adrenal gland; ; body of pancreas; ; left adrenal cortex;
	Top expressed in
	morula; ; submandibular gland; ; urethra; ; endocardial cushion; ; medullary collecting duct; ; gastrula; ; blastocyst; ; right kidney; ; lumbar subsegment of spinal cord; ; fossa;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; ligase activity; ATP binding; tryptophan-tRNA ligase activity;
Cellular component	cytoplasm; mitochondrion; plasma membrane; mitochondrial matrix;
Biological process	vasculogenesis; tryptophanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; protein biosynthesis; mitochondrial tryptophanyl-tRNA aminoacylation;
	Sources:Amigo / QuickGO
Orthologs
	10352
	70560
	ENSG00000116874
	ENSMUSG00000004233
	Q9UGM6
	Q9CYK1
NM_015836; NM_201263; NM_001378226; NM_001378227; NM_001378228;
	NM_001378229; NM_001378230; NM_001378231
	NM_027462
NP_056651; NP_957715; NP_001365155; NP_001365156; NP_001365157;
	NP_001365158; NP_001365159; NP_001365160
	NP_081738
	Wikidata
View/Edit Human	View/Edit Mouse

Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.⁵⁶⁷

Function

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described.⁷ According to recent research, mutations of the mitochondrial form of the enzyme are believed to express two different neurological disorders: A subtype of autosomal recessive intellectual disability and a syndrome of severe infantile‐onset leukoencephalopathy.⁸

References

GRCh38: Ensembl release 89: ENSG00000116874 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000004233 – 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.
Martinez-Dominguez MT, Justesen J, Kruse TA, Hansen LL (Mar 1999). "Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 83 (3–4): 249–250. doi:10.1159/000015196. PMID 10072595. S2CID 28931531.
Jorgensen R, Søgaard TM, Rossing AB, Martensen PM, Justesen J (June 2000). "Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase". The Journal of Biological Chemistry. 275 (22): 16820–16826. doi:10.1074/jbc.275.22.16820. PMID 10828066.
"Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial".
Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, et al. (March 2018). "Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism". Clinical Genetics. 93 (3): 712–718. doi:10.1111/cge.13172. PMC 5828974. PMID 29120065.

External links

WARS2 human gene location in the UCSC Genome Browser.
WARS2 human gene details in the UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116874 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000004233 – 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.

[pmid10072595-5] Martinez-Dominguez MT, Justesen J, Kruse TA, Hansen LL (Mar 1999). "Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 83 (3–4): 249–250. doi:10.1159/000015196. PMID 10072595. S2CID 28931531.

[pmid10828066-6] Jorgensen R, Søgaard TM, Rossing AB, Martensen PM, Justesen J (June 2000). "Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase". The Journal of Biological Chemistry. 275 (22): 16820–16826. doi:10.1074/jbc.275.22.16820. PMID 10828066.

[entrez-7] "Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial".

[8] Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, et al. (March 2018). "Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism". Clinical Genetics. 93 (3): 712–718. doi:10.1111/cge.13172. PMC 5828974. PMID 29120065.

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Function

References

Further reading

External links