CARS2 wt Allele

Preferred Label : CARS2 wt Allele;

NCIt synonyms : Cysteinyl-tRNA Synthetase, Mitochondrial Gene; OK/SW-cl.10; Cysteinyl-tRNA Synthetase 2 Gene; FLJ12118; Cysteinyl-tRNA Synthetase 2, Mitochondrial wt Allele; Cysteine tRNA Ligase 2, Mitochondrial Gene; CysRS; COXPD27;

NCIt definition : Human CARS2 wild-type allele is located in the vicinity of 13q34 and is approximately 72 kb in length. This allele, which encodes cysteine-tRNA ligase, mitochondrial protein, plays a role in the synthesis of cysteinyl-tRNA(Cys) in the mitochondrion. Mutation of the gene is associated with combined oxidative phosphorylation deficiency 27.;

NCI Metathesaurus CUI : CL1794300;

GenBank Accession Number : BC007220;

Details

Origin ID

C189081;

UMLS CUI

C5702694;

Automatic exact mappings (from CISMeF team)
- Combined oxidative phosphorylation defect type 27 [ORDO Disease]
- Combined oxidative phosphorylation deficiency 27 [OMIM Phenotype]
- Cysteinyl-trna synthetase 1 [OMIM gene]
OMIM relation
- Cysteinyl-trna synthetase 2 [OMIM gene]
See also inter- (CISMeF)
- combined oxidative phosphorylation deficiency 27 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cysteinyl-trna synthetase 2 [OMIM gene]
- cysteinyl-tRNA synthetase 2, mitochondrial [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q34 [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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