NARS2 Chromosome 11
Asparaginyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
11q14.1
Ensembl
ENSG00000137513
Associated Conditions (9)
Combined oxidative phosphorylation defect type 24
Inborn genetic diseases
Hearing loss
autosomal recessive 94
NARS2-related disorder
Intellectual disability
Sensorineural hearing loss disorder
Mitochondrial disease
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Key Variants
RS144653284
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 24, Inborn genetic diseases, Hearing loss
Health Risk
RS146900529
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive 94, Inborn genetic diseases
Health Risk
RS149061222
Conflicting classifications of pathogenicity
Health Risk
RS150879145
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
Health Risk
RS185461968
Conflicting classifications of pathogenicity
Inborn genetic diseases, NARS2-related disorder, Inborn genetic diseases
Health Risk
RS1856741568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199706625
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201591441
Conflicting classifications of pathogenicity
NARS2-related disorder, Intellectual disability, NARS2-related disorder
Health Risk
RS201751992
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 24, Inborn genetic diseases, Combined oxidative phosphorylation defect type 24
Health Risk
RS2135213081
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
Health Risk
RS34950075
Conflicting classifications of pathogenicity
NARS2-related disorder, NARS2-related disorder
Health Risk
RS367584549
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144653284 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Inborn genetic diseases, Hearing loss |
| RS146900529 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal recessive 94, Inborn genetic diseases |
| RS149061222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150879145 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS185461968 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NARS2-related disorder, Inborn genetic diseases |
| RS1856741568 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199706625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201591441 | Health Risk | Conflicting classifications of pathogenicity | NARS2-related disorder, Intellectual disability, NARS2-related disorder |
| RS201751992 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Inborn genetic diseases, Combined oxidative phosphorylation defect type 24 |
| RS2135213081 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS34950075 | Health Risk | Conflicting classifications of pathogenicity | NARS2-related disorder, NARS2-related disorder |
| RS367584549 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS370150532 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, NARS2-related disorder, Combined oxidative phosphorylation defect type 24 |
| RS372086134 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376010721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS544972589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS549442380 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 24, Inborn genetic diseases, Combined oxidative phosphorylation defect type 24 |
| RS751315158 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS762479722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NARS2-related disorder, Inborn genetic diseases |
| RS763911960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765813020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS953849956 | Health Risk | Conflicting classifications of pathogenicity | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS1064796717 | Health Risk | Likely pathogenic | — |
| RS1565216037 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS2496352818 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS541632286 | Health Risk | Likely pathogenic | — |
| RS730882155 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS755122704 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS1035101172 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS1057524183 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS1260094866 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS1555047651 | Health Risk | Pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS1565235204 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS2496365964 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS2496830227 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS368911815 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS730882154 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS748779965 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS763770414 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS763951474 | Health Risk | Pathogenic | — |
| RS886041483 | Health Risk | Pathogenic | — |
| RS565224393 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24 |
| RS755975670 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 24, NARS2-related disorder, Combined oxidative phosphorylation defect type 24 |
| RS952741388 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 94, Hearing loss |