FNBP1
Chr 9formin binding protein 1
Also known as: FBP17
The protein coordinates membrane tubulation with actin cytoskeleton reorganization during clathrin-mediated endocytosis by binding lipids to promote membrane invagination and enhancing actin polymerization through WASL/N-WASP recruitment. Loss-of-function mutations cause autosomal dominant neurodevelopmental disorders with high constraint against loss-of-function variants (pLI 0.83, LOEUF 0.36). The pathogenic mechanism involves disrupted endocytic processes critical for neuronal function and development.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FNBP1 · 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