PRR7

Chr 5

proline rich 7, synaptic

NCBI Gene: 80758 ENSG00000131188 UniProt: Q8TB68 OMIM: 618306

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

Clinical Summary— PRR7

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ClinVar Variants

38 VUS of 39 total submissions

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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

39 submitted variants in ClinVar

ClinVar

Classification Summary

VUS38

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	38	38
Likely Benign	0	0
Benign	0	0
Total	38	38

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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57 pathogenic / likely-pathogenic (of 69) ClinVar copy-number / structural variants overlap PRR7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →