PRR7
Chr 5proline rich 7, synaptic
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRR7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools