PRR7

Chr 5

proline rich 7, synaptic

NCBI Gene: 80758 ENSG00000131188 UniProt: Q8TB68

PRR7 encodes a protein that acts as a synapse-to-nucleus messenger promoting NMDA receptor-mediated excitotoxicity and regulates transcription factor JUN activity by inhibiting its degradation and promoting its phosphorylation. The gene is highly constrained against loss-of-function variants (pLI = 0.87, LOEUF = 0.45), but no specific human disease has been definitively associated with PRR7 mutations to date. Given its role in neuronal excitotoxicity and apoptosis, mutations would likely follow an autosomal inheritance pattern and potentially affect the central nervous system.

ResearchSummary from RefSeq, UniProt

Enables long-chain fatty acid binding activity; protein tyrosine kinase binding activity; and ubiquitin-like protein ligase binding activity. Involved in positive regulation of apoptotic process and regulation of transcription by RNA polymerase I. Located in several cellular components, including cytosol; nucleoplasm; and perinuclear region of 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)

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P/LP submissions

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P/LP missense

0.45

LOEUF

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Mechanism

Some data sources returned errors (1)

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