EXOSC2
Chr 9ARexosome component 2
Also known as: RRP4, Rrp4p, SHRF, hRrp4p, p7
The EXOSC2 protein is a non-catalytic component of the RNA exosome complex that processes and degrades various RNA species in both the nucleus and cytoplasm. Biallelic mutations cause an autosomal recessive syndrome characterized by short stature, hearing loss, retinitis pigmentosa, and distinctive facial features. The gene is highly constrained against loss-of-function variants (pLI near 1), indicating that complete loss of function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EXOSC2 · 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