EARS2 Chromosome 16
Glutamyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes a member of the class I 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 glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000103356
Associated Conditions (8)
Inborn genetic diseases
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Mitochondrial disease
EARS2-related disorder
See cases
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
9 conditions
Key Variants
RS112604556
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141129877
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS187662524
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases, Mitochondrial disease
Health Risk
RS199575087
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases, Mitochondrial disease
Health Risk
RS200139797
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, EARS2-related disorder, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS201279526
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201607271
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS201727231
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, See cases, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS201929423
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, EARS2-related disorder, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS201941745
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369770210
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
RS371317036
Conflicting classifications of pathogenicity
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397514594 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| RS767857970 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| RS778413603 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |