RARS2 Gene Summary [Human]
This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | RARS2 |
| Official Name | arginyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:21406] |
| Ensembl ID | ENSG00000146282 |
| Bio databases IDs | |
| Aliases | arginyl-tRNA synthetase 2, mitochondrial, arginine tRNA ligase 2, mitochondrial (putative) |
| Synonyms | 1500002I10Rik, arginyl-tRNA synthetase 2, mitochondrial, ArgRS, DALRD2, PCH6, PRO1992, RARSL |
| 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 RARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginyl-tRNA synthetase
- DALR anticodon binding domain
- tRNA synthetases class I (R)
- arginine-tRNA ligase
- enzyme
- protein binding
- nucleotidyl transferase superfamily
- class Ia aminoacyl tRNA synthetases anticodon binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pontocerebellar hypoplasia, type 6
- non-syndromic congenital pontocerebellar hypoplasia
- hereditary disorder
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- mitochondrial disorder
regulates
role in cell
- molecular cleavage 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
- cellular membrane
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RARS2 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
- arginyl-tRNA aminoacylation
- mitochondrial translation
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- RNA binding
- protein binding
- arginine-tRNA ligase activity