DARS2 Gene Summary [Human]
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | DARS2 |
| Official Name | aspartyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:25538] |
| Ensembl ID | ENSG00000117593 |
| Bio databases IDs | |
| Aliases | aspartyl-tRNA synthetase 2, mitochondrial, aspartate tRNA ligase 2, mitochondrial |
| Synonyms | 5830468K18Rik, Aspartyl-tRNA Synthetase 2, aspartyl-tRNA synthetase 2 (mitochondrial), aspartyl-tRNA synthetase 2, mitochondrial, ASPRS, Asp synthetase, LBSL, MT-ASPRS, RGD1308286 |
| 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 DARS2 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
- OB-fold nucleic acid binding domain
- tRNA synthetases class II (D, K and N)
- ATP binding
- enzyme
- protein binding
- oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases
- GAD domain
- aspartate-tRNA(Asn) ligase
- protein homodimerization
- aspartate-tRNA ligase
- aspartyl-tRNA synthetase, bacterial type
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight loss
- lung adenocarcinoma
- lung adenocarcinoma formation
- hereditary disorder
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- hereditary spastic ataxia
- mitochondrial disorder
- organismal death
role in cell
- production in
- expression in
- proliferation
- glycolysis in
- migration
- accumulation
- apoptosis
- invasion by
- accumulation in
- dispersal 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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial asparaginyl-tRNA aminoacylation
- tRNA aminoacylation
- aspartyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial matrix
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- protein homodimerization activity
- aspartate-tRNA(Asn) ligase activity
- aspartate-tRNA ligase activity
- tRNA binding