VARS2 Gene Summary [Human]
This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Details
| Type | Protein Coding |
| Official Symbol | VARS2 |
| Official Name | valyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:21642] |
| Ensembl ID | ENSG00000137411 |
| Bio databases IDs | |
| Aliases | valyl-tRNA synthetase 2, mitochondrial, valine tRNA ligase 2, mitochondrial |
| Synonyms | 1190004I24RIK, COXPD20, mKIAA1885, Syvm, VALRS, valyl-tRNA synthetase 2, mitochondrial, VARS2L, VARSL |
| 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 VARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucyl-tRNA synthetase, eubacterial and mitochondrial family
- valine-tRNA ligase
- enzyme
- protein binding
- nucleotidyl transferase superfamily
- valyl-tRNA synthetase
- Anticodon-binding domain of tRNA ligase
- class Ia aminoacyl tRNA synthetases anticodon binding domain
- tRNA synthetases class I (I, L, M and V)
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
- combined oxidative phosphorylation deficiency 20
- mitochondrial disorder
- lung squamous cell carcinoma
- squamous cell lung cancer
- chronic obstructive pulmonary disease
- inguinal hernia
- microalbuminuria
- hypothyroidism
role in cell
- cell death
- autophagy in
- autophagy
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- valyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- valine-tRNA ligase activity
- ATP binding
- protein binding
- aminoacyl-tRNA editing activity