WARS2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | WARS2 |
| Official Name | tryptophanyl tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:12730] |
| Ensembl ID | ENSG00000116874 |
| Bio databases IDs | |
| Aliases | tryptophanyl tRNA synthetase 2, mitochondrial, tryptophan tRNA ligase 2, mitochondrial |
| Synonyms | 5730427B17Rik, 9430020O07Rik, LOC683246, mtTrpRS, NEMMLAS, PKDYS3, TrpRS, tryptophanyl tRNA synthetase 2 (mitochondrial), tryptophanyl tRNA synthetase 2, mitochondrial |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tryptophan-tRNA ligase
- tRNA synthetases class I (W and Y)
- tryptophanyl-tRNA synthetase
- enzyme
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis
- male pattern hair loss
- mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis without seizures
- childhood-onset parkinsonism-dystonia type 3
- mitochondrial disorder
- mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis with seizures
- neurodevelopmental disorder
- alopecia
- major depression
regulates
- L-tryptophan
- pyrophosphate
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- mitochondrial fraction
- Plasma Membrane
- Mitochondria
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA aminoacylation for protein translation
- mitochondrial tryptophanyl-tRNA aminoacylation
- vasculogenesis
- positive regulation of angiogenesis
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- tryptophan-tRNA ligase activity