PTBP3
Chr 9polypyrimidine tract binding protein 3
The protein binds RNA and regulates pre-mRNA alternative splicing, controlling cell proliferation, differentiation, and migration by repressing tissue-specific exons. Loss-of-function mutations in this gene are predicted to cause disease based on high constraint metrics (pLI 0.86, LOEUF 0.37), but specific clinical phenotypes and inheritance patterns have not yet been established. The gene's intolerance to loss-of-function variation suggests pathogenic variants would likely follow an autosomal dominant inheritance pattern.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTBP3 · 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