AGO2
Chr 8ADargonaute RISC catalytic component 2
Also known as: CASC7, EIF2C2, LESKRES, LINC00980, PPD, Q10
This protein is essential for RNA-mediated gene silencing, functioning as the catalytic component of the RNA-induced silencing complex (RISC) that uses microRNAs and small interfering RNAs to regulate gene expression through mRNA cleavage or translational repression. Mutations cause Lessel-Kreienkamp syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly constrained against loss-of-function mutations (pLI >0.99, LOEUF 0.106), indicating that complete protein loss is likely incompatible with normal development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
AGO2 · 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