PAN2
Chr 12ARpoly(A) specific ribonuclease subunit PAN2
Also known as: DEDCRF, USP52
The protein functions as a deadenylase and catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex, acting as a magnesium-dependent 3' to 5' exoribonuclease involved in cytoplasmic mRNA degradation. Biallelic mutations cause autosomal recessive developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.32), indicating that haploinsufficiency is likely not tolerated in the general population.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PAN2 · 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