PAN3
Chr 13poly(A) specific ribonuclease subunit PAN3
PAN3 encodes a regulatory subunit of the poly(A)-nuclease deadenylation complex that shortens poly(A) tails and promotes mRNA turnover by recruiting the catalytic subunit PAN2 to target mRNAs. Mutations cause autosomal recessive intellectual disability with seizures and variable additional features including microcephaly and growth retardation. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that haploinsufficient mutations are likely pathogenic even when inherited recessively.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
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
PAN3 · 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