WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial Gene
Also Known as TrpRS; PKDYS3; NEMMLAS; mtTrpRS
Species: Homo sapiens
About WARS2
This gene has 5 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 4.3), colon (RPKM 4.1) and 25 other tissues.
Summary
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. [provided by RefSeq, Jul 2008]
WARS2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001378226.1 | NP_001365155.1 | tryptophan--tRNA ligase, mitochondrial isoform 3 |
| NM_001378227.1 | NP_001365156.1 | tryptophan--tRNA ligase, mitochondrial isoform 3 |
| NM_001378228.1 | NP_001365157.1 | tryptophan--tRNA ligase, mitochondrial isoform 4 |
| NM_001378229.1 | NP_001365158.1 | tryptophan--tRNA ligase, mitochondrial isoform 5 |
| NM_001378230.1 | NP_001365159.1 | tryptophan--tRNA ligase, mitochondrial isoform 6 |
| NM_001378231.1 | NP_001365160.1 | tryptophan--tRNA ligase, mitochondrial isoform 7 |
| NM_015836.4 | NP_056651.1 | tryptophan--tRNA ligase, mitochondrial isoform 1 precursor |
| NM_201263.2 | NP_957715.1 | tryptophan--tRNA ligase, mitochondrial isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables tryptophan-tRNA ligase activity |
IDA
IDA: Inferred from direct assay
|
10828066 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial matrix |
IDA
IDA: Inferred from direct assay
|
28236339 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
10828066 | GOA |
WARS2 Protein Structure
tRNA-synt_1b: tRNA synthetases class I (W and Y) (32 - 314)
- 0
- 100
- 200
- 300
- 360 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tryptophan--tRNA ligase, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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| Parkinsonism-Dystonia 3, Childhood-Onset |
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| Combined Oxidative Phosphorylation Deficiency 12 |
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| Bulbar Polio |
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| Developmental And Epileptic Encephalopathy 75 |
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| Lactic Acidosis |
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| Perrault Syndrome |
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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| Dystonia |
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| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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| Charcot-Marie-Tooth Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | WARS2 | RGD | RGD:1593417 |
| Canis familiaris | WARS2 | VGNC | VGNC:48332 |
| Mus musculus | WARS2 | MGD | MGI:1917810 |
| Bos taurus | WARS2 | VGNC | VGNC:36864 |
| Felis catus | WARS2 | VGNC | VGNC:67000 |
| Macaca mulatta | WARS2 | VGNC | VGNC:100187 |
| Others | WARS2 | NCBI |