NOP58
Chr 2NOP58 ribonucleoprotein
Also known as: HSPC120, NOP5, NOP5/NOP58
The NOP58 protein is a core component of box C/D small nucleolar ribonucleoprotein complexes that is required for ribosome biogenesis and methylation of ribosomal and messenger RNAs. Mutations cause Bowen-Conradi syndrome, an autosomal recessive disorder characterized by severe growth restriction, microcephaly, and early lethality typically within the first year of life. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NOP58 · 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