MRPS2
Chr 9ARmitochondrial ribosomal protein S2
Also known as: CGI-91, COXPD36, MRP-S2, S2mt, uS2m
The protein is required for mitoribosome formation and stability, and mitochondrial translation as a component of the small 28S mitochondrial ribosomal subunit. Mutations cause combined oxidative phosphorylation deficiency 36 through autosomal recessive inheritance. The pathogenic mechanism involves impaired mitochondrial protein synthesis leading to defective oxidative phosphorylation.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
209 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 54 | 0 | 55 |
Likely Pathogenic | 2 | 1 | 2 | 0 | 5 |
VUS | 1 | 71 | 15 | 0 | 87 |
Likely Benign | 0 | 3 | 10 | 25 | 38 |
Benign | 0 | 7 | 0 | 1 | 8 |
Conflicting | — | 8 | |||
| Total | 3 | 83 | 81 | 26 | 201 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRPS2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools