NOP14
Chr 4NOP14 nucleolar protein
Also known as: C4orf9, NOL14, RES4-25, RES425, UTP2
The protein is involved in nucleolar processing of pre-18S ribosomal RNA and nuclear export of 40S pre-ribosomal subunits to the cytoplasm. Mutations cause autosomal recessive developmental delay with short stature, dysmorphic features, and intellectual disability. This gene is highly constrained against loss-of-function variants (LOEUF 0.58), consistent with its essential role in ribosome biogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
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
NOP14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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