NARS2 Gene Summary [Human]
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
Details
| Type | Protein Coding |
| Official Symbol | NARS2 |
| Official Name | asparaginyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:26274] |
| Ensembl ID | ENSG00000137513 |
| Bio databases IDs | |
| Aliases | asparaginyl-tRNA synthetase 2, mitochondrial, asparagine tRNA ligase 2, mitochondrial (putative) |
| Synonyms | asnRS, asparaginyl-tRNA synthetase 2, mitochondrial, asparaginyl-tRNA synthetase 2 (mitochondrial)(putative), DFNB94, RGD1305145, SLM5 |
| 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 NARS2 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
- OB-fold nucleic acid binding domain
- tRNA synthetases class II (D, K and N)
- asparagine-tRNA ligase
- enzyme
- asparaginyl-tRNA synthetase
- nondiscriminating aspartyl-tRNA synthetase
- oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- inflammatory bowel disease
- combined oxidative phosphorylation deficiency 24
- Alzheimer disease
- Leigh syndrome
- mitochondrial encephalopathy
- familial nonsyndromic hearing impairment
- autosomal recessive deafness type 94
- sensorineural hearing loss
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- mitochondrial disorder
regulated by
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
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NARS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- asparaginyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- ATP binding
- asparagine-tRNA ligase activity