NARS2
Chr 11ARasparaginyl-tRNA synthetase 2, mitochondrial
Also known as: DFNB94, SLM5, asnRS
The protein catalyzes the ligation of asparagine to tRNA molecules in the mitochondrial matrix, which is essential for mitochondrial protein biosynthesis. Mutations cause combined oxidative phosphorylation deficiency 24 and autosomal recessive deafness through an autosomal recessive inheritance pattern. The pathogenic mechanism appears to be dominant negative, where mutant proteins interfere with normal mitochondrial protein synthesis.
Limited evidence — not for standalone diagnostic reporting
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NARS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools