SARS2 Gene - Seryl-tRNA Synthetase 2, Mitochondrial
Essential mitochondrial enzyme for protein synthesis and tRNA aminoacylation
Gene Information Card
| Symbol | SARS2 |
|---|---|
| Full Name | Seryl-tRNA Synthetase 2, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 54938 ncbi.nlm.nih.gov/gene/54938 |
| Ensembl ID | ENSG00000104852 |
| UniProt ID | Q9NP81 |
| OMIM ID | 612804 |
| HGNC ID | 17697 |
| Aliases | SARS, mtSerRS, SERS, SERRS |
Description
SARS2 encodes the mitochondrial seryl-tRNA synthetase, which catalyzes the attachment of serine to its cognate mitochondrial tRNA (tRNA(Ser)). This enzyme is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations in SARS2 cause HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure, and alkalosis), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HUPRA syndrome | Loss-of-function mutations impair mitochondrial tRNA aminoacylation, leading to defective mitochondrial translation and energy deficiency | PMID: 21255763 |
| Progressive spastic paraplegia | Missense variants disrupt enzyme activity, affecting mitochondrial function in neurons | PMID: 30564623 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 10.1 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 7.5 | Low |
| Skeletal muscle | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 12.1 | Medium expression |
| HepG2 | 9.7 | Medium expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1162A>G (p.Thr388Ala) | Missense | Rare | Reduced enzyme activity; associated with HUPRA syndrome |
| c.443C>T (p.Pro148Leu) | Missense | Rare | Impaired mitochondrial translation; linked to spastic paraplegia |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of function; severe HUPRA phenotype |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations reduce or abolish seryl-tRNA synthetase activity, impairing mitochondrial protein synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • serine-tRNA ligase activity (GO:0004828) | • mitochondrion (GO:0005739) |
| • translation (GO:0006412) | • seryl-tRNA aminoacylation (GO:0006434) |
| • mitochondrial matrix (GO:0005759) |
Pathways
• Mitochondrial tRNA aminoacylation (R-HSA-379716)
• Mitochondrial translation (R-HSA-5368287)
Protein Summary
SARS2 is a 518-amino acid mitochondrial enzyme that homodimerizes to form the active seryl-tRNA synthetase. It specifically recognizes tRNA(Ser) isoacceptors and catalyzes the ATP-dependent attachment of serine. The protein contains a mitochondrial targeting sequence and a catalytic domain. Defects in SARS2 disrupt mitochondrial translation, leading to respiratory chain deficiencies and metabolic disorders.
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