NOL4

Chr 18

nucleolar protein 4

Also known as: CT125, HRIHFB2255, NOLP

NCBI Gene: 8715 ENSG00000101746 UniProt: O94818 OMIM: 603577

The NOL4 protein is predicted to bind RNA and localize to the nucleolus. This gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.22), suggesting mutations would likely cause severe disease, but no specific disease associations have been established yet. The extreme intolerance to functional variants indicates NOL4 likely plays a critical role in cellular function.

OMIM ResearchSummary from RefSeq

Predicted to enable RNA binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted