PTBP3

Chr 9

polypyrimidine 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.

OMIMResearchSummary from RefSeq, UniProt, Mechanism
LOFmechanismLOEUF 0.37
Clinical SummaryPTBP3
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.37LOEUF
pLI 0.863
Z-score 4.08
OE 0.18 (0.090.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.20Z-score
OE missense 0.80 (0.720.90)
242 obs / 300.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.090.37)
00.351.4
Missense OE0.80 (0.720.90)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 5 / 28.5Missense obs/exp: 242 / 300.7Syn Z: 0.18
DN
0.4884th %ile
GOF
0.4972th %ile
LOF
0.70top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.37

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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