RNF152

Chr 18

ring finger protein 152

NCBI Gene: 220441 ENSG00000176641 UniProt: Q8N8N0 OMIM: 616512

RNF152 encodes an E3 ubiquitin ligase that negatively regulates mTORC1 signaling by ubiquitinating RagA and RHEB proteins in response to amino acid availability. Pathogenic variants cause autosomal recessive intellectual disability with developmental delay, hypotonia, and feeding difficulties in infancy. The gene shows moderate tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables small GTPase binding activity and ubiquitin protein ligase activity. Involved in several processes, including cellular response to amino acid starvation; negative regulation of TORC1 signaling; and protein ubiquitination. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)