PCBP3
Chr 21poly(rC) binding protein 3
Also known as: ALPHA-CP3, PCBP3-OT1, PCBP3OT
The protein encoded by this gene is a single-stranded nucleic acid binding protein that binds preferentially to cytosine-rich sequences and plays important roles in post-transcriptional RNA regulation. Mutations in PCBP3 cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is not well-tolerated in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
173 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 85 | 0 | 85 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 39 | 22 | 0 | 61 |
Likely Benign | 0 | 1 | 4 | 2 | 7 |
Benign | 0 | 0 | 1 | 3 | 4 |
Conflicting | — | 1 | |||
| Total | 0 | 40 | 119 | 5 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCBP3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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