AARS2 Gene Summary [Human]
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | AARS2 |
| Official Name | alanyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:21022] |
| Ensembl ID | ENSG00000124608 |
| Bio databases IDs | |
| Aliases | alanyl-tRNA synthetase 2, mitochondrial, alanine tRNA ligase 2, mitochondrial |
| Synonyms | AARSL, alanyl-tRNA synthetase 2, mitochondrial, AlaRS, COXPD8, Gm89, LKENP, MT-ALARS |
| 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 AARS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- class_II_aaRS-like_core
- alanine-tRNA ligase
- alanine--tRNA ligase
- Threonyl and Alanyl tRNA synthetase second additional domain
- enzyme
- tRNA synthetases class II (A)
- protein binding
- phosphoric ester bond forming ligase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- organismal death
- combined oxidative phosphorylation deficiency 8
- progressive leukoencephalopathy with ovarian failure
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- gastric adenocarcinoma
- gastric epithelial cancer
- prostate cancer
regulated by
role in cell
- proliferation
- migration
- 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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- alanyl-tRNA aminoacylation
- mitochondrial alanyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- zinc ion binding
- protein binding
- alanine-tRNA ligase activity
- aminoacyl-tRNA editing activity
- tRNA binding