CARS2 Chromosome 13
Cysteinyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000134905
Associated Conditions (4)
Combined oxidative phosphorylation defect type 27
CARS2-related disorder
Inborn genetic diseases
See cases
Key Variants
RS112070421
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27
Health Risk
RS117788141
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
Health Risk
RS1232251739
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27
Health Risk
RS1258446331
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
Health Risk
RS138372705
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27
Health Risk
RS141184379
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Inborn genetic diseases
Health Risk
RS1412483498
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
Health Risk
RS1439475292
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
Health Risk
RS150286306
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27
Health Risk
RS200491395
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27
Health Risk
RS201577762
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, See cases, Combined oxidative phosphorylation defect type 27
Health Risk
RS372734645
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112070421 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27 |
| RS117788141 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS1232251739 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS1258446331 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS138372705 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS141184379 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Inborn genetic diseases |
| RS1412483498 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS1439475292 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS150286306 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS200491395 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27 |
| RS201577762 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, See cases, Combined oxidative phosphorylation defect type 27 |
| RS372734645 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS374751888 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS375938059 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS377120724 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27 |
| RS570568500 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS575601185 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, CARS2-related disorder, Combined oxidative phosphorylation defect type 27 |
| RS749680674 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS753472937 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS758217572 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS766266851 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS771202761 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Inborn genetic diseases, Combined oxidative phosphorylation defect type 27 |
| RS774110184 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS779385700 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS1887501594 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS727505361 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27 |
| RS1555342802 | Health Risk | Pathogenic | Inborn genetic diseases, Combined oxidative phosphorylation defect type 27, Inborn genetic diseases |