Entity Details

Primary name WARS2
Entity type gene
Source Source Link

Details

PrimaryID10352
RefseqGeneNG_050658
SymbolWARS2
Nametryptophanyl tRNA synthetase 2, mitochondrial
Chromosome1
Location1p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSYWM_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001570 vasculogenesis
GO:0004830 tryptophan-tRNA ligase activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005886 plasma membrane
GO:0006418 tRNA aminoacylation for protein translation
GO:0006436 tryptophanyl-tRNA aminoacylation
GO:0070183 mitochondrial tryptophanyl-tRNA aminoacylation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617710 OMIMNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS)An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals. The disease is caused by variants affecting the gene represented in this entry.