SARS2 Chromosome 19
Seryl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000104835
Associated Conditions (9)
Hyperuricemia
pulmonary hypertension
renal failure
alkalosis syndrome
SARS2-related disorder
SARS2-associated condition
Familial cancer of breast
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Key Variants
RS138274440
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS140304897
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS144529043
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS144760517
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS145163692
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS145754412
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS146193366
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS147412052
Conflicting classifications of pathogenicity
Health Risk
RS182484523
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS200202461
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS200300920
Conflicting classifications of pathogenicity
Hyperuricemia, pulmonary hypertension, renal failure
Health Risk
RS200404654
Conflicting classifications of pathogenicity
SARS2-associated condition, Hyperuricemia, pulmonary hypertension
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138274440 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS140304897 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS144529043 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS144760517 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS145163692 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS145754412 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS146193366 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS147412052 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182484523 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS200202461 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS200300920 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS200404654 | Health Risk | Conflicting classifications of pathogenicity | SARS2-associated condition, Hyperuricemia, pulmonary hypertension |
| RS201347156 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS201988841 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS34050897 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS370612303 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS370842354 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS376335678 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS528674259 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS531462148 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS542117712 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS552465576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556892787 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS563299553 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS61736057 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS749070624 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS772644235 | Health Risk | Conflicting classifications of pathogenicity | Hyperuricemia, pulmonary hypertension, renal failure |
| RS1600163739 | Health Risk | Likely pathogenic | SARS2-associated condition, SARS2-associated condition |
| RS200060827 | Health Risk | Likely pathogenic | — |
| RS727502784 | Health Risk | Likely pathogenic | Hyperuricemia, pulmonary hypertension, renal failure |
| RS1114167285 | Health Risk | Pathogenic | Hyperuricemia, pulmonary hypertension, renal failure |
| RS863224195 | Health Risk | Pathogenic | — |