FARS2 Gene Summary [Human]
This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | FARS2 |
| Official Name | phenylalanyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:21062] |
| Ensembl ID | ENSG00000145982 |
| Bio databases IDs | |
| Aliases | phenylalanyl-tRNA synthetase 2, mitochondrial, phenylalanine tRNA ligase 2, mitochondrial |
| Synonyms | COXPD14, FARS1, HSPC320, mtPheRS, phenylalanine-tRNA synthetase 2, mitochondrial, phenylalanyl-tRNA synthetase 2, mitochondrial, PheRS, PUTATIVE PHENYLALANINE-TRNA SYNTHETASE, SPG77 |
| 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 FARS2 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
- class_II_aaRS-like_core
- phenylalanyl-tRNA synthetase, mitochondrial
- phenylalanyl-tRNA synthetase, alpha subunit
- enzyme
- protein binding
- Ferredoxin-fold anticodon binding domain
- phenylalanine-tRNA ligase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- combined oxidative phosphorylation deficiency 14
- hereditary disorder
- autosomal recessive spastic paraplegia type 77
- endometriosis
- IgA nephropathy
- major depression
- acute myeloid leukemia
- open-angle glaucoma
- neuroblastoma
regulates
- tRNA-Phe
role in cell
- growth
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 FARS2 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
- tRNA processing
- phenylalanyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- phenylalanine-tRNA ligase activity
- tRNA binding