IARS2 Chromosome 1
Isoleucyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000067704
Associated Conditions (7)
Inborn genetic diseases
Leigh syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Peripheral neuropathy
Cataract
growth hormone deficiency with short stature
partial sensorineural deafness
Key Variants
RS141215374
Conflicting classifications of pathogenicity
Health Risk
RS141275528
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143722284
Conflicting classifications of pathogenicity
Leigh syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Leigh syndrome
Health Risk
RS146236436
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189118525
Conflicting classifications of pathogenicity
Health Risk
RS201122237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201619737
Conflicting classifications of pathogenicity
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Inborn genetic diseases, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Health Risk
RS371011410
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373436822
Conflicting classifications of pathogenicity
Leigh syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Leigh syndrome
Health Risk
RS373528069
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377432411
Conflicting classifications of pathogenicity
Health Risk
RS587783070
Conflicting classifications of pathogenicity
Peripheral neuropathy, Cataract, growth hormone deficiency with short stature
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141215374 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141275528 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143722284 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Leigh syndrome |
| RS146236436 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189118525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201122237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201619737 | Health Risk | Conflicting classifications of pathogenicity | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Inborn genetic diseases, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS371011410 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373436822 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Leigh syndrome |
| RS373528069 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377432411 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587783070 | Health Risk | Conflicting classifications of pathogenicity | Peripheral neuropathy, Cataract, growth hormone deficiency with short stature |
| RS755229056 | Health Risk | Conflicting classifications of pathogenicity | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS770082667 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1287308680 | Health Risk | Likely pathogenic | — |
| RS151241066 | Health Risk | Likely pathogenic | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS2102814284 | Health Risk | Likely pathogenic | — |
| RS2102832737 | Health Risk | Likely pathogenic | — |
| RS532672867 | Health Risk | Likely pathogenic | — |
| RS539149720 | Health Risk | Likely pathogenic | — |
| RS773732328 | Health Risk | Likely pathogenic | — |
| RS1185448032 | Health Risk | Pathogenic | — |
| RS1298348124 | Health Risk | Pathogenic | — |
| RS1306059500 | Health Risk | Pathogenic | — |
| RS1571845061 | Health Risk | Pathogenic | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS1571863769 | Health Risk | Pathogenic | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS1571865562 | Health Risk | Pathogenic | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS1657568800 | Health Risk | Pathogenic | — |
| RS2102837157 | Health Risk | Pathogenic | — |
| RS2102839341 | Health Risk | Pathogenic | — |
| RS897456214 | Health Risk | Pathogenic | — |
| RS146618526 | Health Risk | Pathogenic/Likely pathogenic | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| RS754577516 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Leigh syndrome |