RPS6
Chr 9ribosomal protein S6
This protein is a component of the 40S ribosomal subunit that plays an important role in controlling cell growth and proliferation through selective translation of particular mRNA classes. Mutations cause Diamond-Blackfan anemia, a congenital bone marrow failure syndrome with autosomal dominant inheritance that typically presents in infancy with severe anemia, growth retardation, and congenital malformations. The gene is highly constrained against loss-of-function variants, reflecting its essential role in ribosome function.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPS6 · 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
External Resources
Links to major genomics databases and tools