PRAMEF14

Chr 1

PRAME family member 14

NCBI Gene: 729528 ENSG00000204481 UniProt: Q5SWL7

This protein is predicted to function as a ubiquitin-like ligase-substrate adaptor in the Cul2-RING ubiquitin ligase complex, facilitating proteasome-mediated protein degradation in the cytoplasm. The gene shows tolerance to loss-of-function variants (LOEUF 1.89), and no established human disease associations have been reported for PRAMEF14 mutations. Clinical significance of variants in this gene remains to be determined.

ResearchSummary from RefSeq

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

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P/LP missense

1.89

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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