NOP2

Chr 12

NOP2 nucleolar protein

Also known as: NOL1, NOP120, NSUN1, p120

NCBI Gene: 4839 ENSG00000111641 UniProt: P46087 OMIM: 164031

NOP2 encodes a methyltransferase that methylates cytosine residues in 28S rRNA and is required for ribosome biogenesis and 60S ribosomal subunit assembly. The gene is highly constrained against loss-of-function variants (pLI=1.00, LOEUF=0.17), indicating that mutations are likely to cause severe developmental consequences. Pathogenic variants in NOP2 have not yet been definitively associated with a recognized human disease phenotype in the medical literature.

OMIM ResearchSummary from RefSeq, UniProt

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in positive regulation of cell population proliferation; regulation of signal transduction by p53 class mediator; and ribosome biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

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

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted