FKBP15
Chr 9FKBP prolyl isomerase family member 15
Also known as: FKBP133, KIAA0674, PPP1R76
FKBP15 encodes a protein that binds actin and regulates cytoskeletal organization in neuronal growth cones, while also facilitating early endosome transport between microfilament-based and microtubule-based movement systems. Mutations cause neurodevelopmental disorders through a dominant-negative mechanism. The inheritance pattern and specific associated diseases are not established from the available data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FKBP15 · 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