DARS2 - aspartyl-tRNA synthetase 2, mitochondrial Gene
Also Known as LBSL; ASPRS; mtAspRS; MT-ASPRS
Species: Homo sapiens
About DARS2
This gene has 13 transcripts (splice variants), 214 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.8) and 25 other tissues.
Summary
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]
DARS2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001365212.1 | NP_001352141.1 | aspartate--tRNA ligase, mitochondrial isoform 2 |
| NM_001365213.2 | NP_001352142.1 | aspartate--tRNA ligase, mitochondrial isoform 3 |
| NM_018122.5 | NP_060592.2 | aspartate--tRNA ligase, mitochondrial isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables aspartate-tRNA ligase activity |
IDA
IDA: Inferred from direct assay
|
23275545 | GOA |
| enables aspartate-tRNA(Asn) ligase activity |
IDA
IDA: Inferred from direct assay
|
15779907 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15779907 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
15779907 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mitochondrial asparaginyl-tRNA aminoacylation |
IDA
IDA: Inferred from direct assay
|
23275545 | GOA |
| involved in tRNA aminoacylation |
IDA
IDA: Inferred from direct assay
|
15779907 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial matrix |
IMP
IMP: Inferred from mutant phenotype
|
30006346 | GOA |
| located in mitochondrial membrane |
IMP
IMP: Inferred from mutant phenotype
|
30006346 | GOA |
DARS2 Protein Structure
tRNA_anti-codon: OB-fold nucleic acid binding domain (66 - 149)
tRNA-synt_2: tRNA synthetases class II (D, K and N) (167 - 607)
GAD: GAD domain (357 - 452)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 645 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aspartate--tRNA ligase, mitochondrial |
|
DARS2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DARS2 | Q6PI48 | COL8A2 | Homo sapiens | Q4VAQ0 | 32296183 | |
|
Intra
|
DARS2 | Q6PI48 | GAPDHS | Homo sapiens | O14556 | 33961781 | |
|
Intra
|
DARS2 | Q6PI48 | GAPDHS | Homo sapiens | O14556 | 28514442 | |
|
Intra
|
DARS2 | Q6PI48 | TMEM239 | Homo sapiens | Q8WW34-2 | 32296183 | |
|
Intra
|
DARS2 | Q6PI48 | TSPAN33 | Homo sapiens | Q86UF1 | 32296183 | |
|
Intra
|
DARS2 | Q6PI48 | FETUB | Homo sapiens | Q9UGM5 | 32296183 | |
|
Intra
|
DARS2 | Q6PI48 | HSPD1 | Homo sapiens | P10809 | 30021884 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
|
| Gout |
|
|
| Spastic Ataxia |
|
|
| Talipes Equinovarus |
|
|
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
|
| Clubfoot |
|
|
| Hypertension, Essential |
|
|
| Combined Oxidative Phosphorylation Deficiency 12 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
|
| Pontocerebellar Hypoplasia, Type 6 |
|
|
| Developmental And Epileptic Encephalopathy 75 |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Perrault Syndrome |
|
|
| Kearns-Sayre Syndrome |
|
|
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia |
|
|
| Mitochondrial Dna Depletion Syndrome 6 |
|
|
| Mitochondrial Complex Ii Deficiency |
|
|
| Pontocerebellar Hypoplasia |
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Mitochondrial Myopathy |
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Leukoencephalopathy With Vanishing White Matter |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
| Leigh Syndrome |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DARS2 | RGD | RGD:1308286 |
| Macaca mulatta | DARS2 | VGNC | VGNC:71708 |
| Canis familiaris | DARS2 | VGNC | VGNC:39775 |
| Bos taurus | DARS2 | VGNC | VGNC:27882 |
| Felis catus | DARS2 | VGNC | VGNC:61342 |
| Mus musculus | DARS2 | MGD | MGI:2442510 |
| Others | DARS2 | NCBI |