NRBP2

Chr 8

nuclear receptor binding protein 2

Also known as: TRG16, pp9320

NCBI Gene: 340371 ENSG00000185189 UniProt: Q9NSY0

NRBP2 encodes a protein with serine/threonine kinase activity that negatively regulates macroautophagy and may control apoptosis during neural progenitor cell differentiation. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and epilepsy. The gene shows moderate constraint to loss-of-function variation (LOEUF 0.52).

ResearchSummary from RefSeq, UniProt

Predicted to enable protein serine/threonine kinase activity. Involved in negative regulation of macroautophagy. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

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

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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