MARS2 Gene Summary [Human]
This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
Details
| Type | Protein Coding |
| Official Symbol | MARS2 |
| Official Name | methionyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:25133] |
| Ensembl ID | ENSG00000247626 |
| Bio databases IDs | |
| Aliases | methionyl-tRNA synthetase 2, mitochondrial, methionine tRNA ligase 2, mitochondrial |
| Synonyms | C730026E21Rik, COXPD25, methionine-tRNA synthetase 2 (mitochondrial), methionyl-tRNA synthetase 2, mitochondrial, MetRS, MetRSmt, mtMetRS, RGD1311527, SPAX3 |
| 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 MARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- methionine-tRNA ligase
- methionine--tRNA ligase
- enzyme
- tRNA synthetases class I (M)
- 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
- autosomal recessive spastic ataxia type 3
- combined oxidative phosphorylation deficiency 25
- mitochondrial disorder
regulates
- PGAM5
- tRNA-Met
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MARS2 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
- methionyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- ATP binding
- methionine-tRNA ligase activity