YARS2 Gene Summary [Human]
This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
Details
| Type | Processed Transcript |
| Official Symbol | YARS2 |
| Official Name | tyrosyl-tRNA synthetase 2 [Source:HGNC Symbol;Acc:HGNC:24249] |
| Ensembl ID | ENSG00000139131 |
| Bio databases IDs | |
| Aliases | tyrosyl-tRNA synthetase 2, tyrosine tRNA ligase 2, mitochondrial |
| Synonyms | 2210023C10Rik, CGI-04, MLASA2, MT-TYRRS, RGD1311696, tyrosyl-tRNA synthetase 2, tyrosyl-tRNA synthetase 2 (mitochondrial), TYRRS |
| 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 YARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tRNA binding
- tRNA synthetases class I (W and Y)
- tyrosine-tRNA ligase
- binding protein
- ATP binding
- protein homodimerization
- enzyme
- protein binding
- nucleotidyl transferase superfamily
- amino acid binding
- tyrosyl-tRNA synthetase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mitochondrial disorder
- myopathy, lactic acidosis, and sideroblastic anemia type 2
- colorectal cancer
regulated by
- lipopolysaccharide
- laduviglusib
- OGT
- topotecan
role in cell
- production in
- proliferation
- migration
- aminoacylation in
- 5-fluorouracil sensitivity
- oxygen consumption in
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
- Mitochondria
- mitochondrial matrix
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human YARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial tyrosyl-tRNA aminoacylation
- tRNA aminoacylation
- translation
Cellular Component
Where in the cell the gene product is active
- nuclear body
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- tyrosine-tRNA ligase activity
- protein homodimerization activity
- protein binding
- RNA binding
- tyrosine binding
- tRNA binding