NOP14

Chr 4

NOP14 nucleolar protein

Also known as: C4orf9, NOL14, RES4-25, RES425, UTP2

NCBI Gene: 8602 ENSG00000087269 UniProt: P78316

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.58

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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