FGD5
Chr 3FYVE, RhoGEF and PH domain containing 5
Also known as: ZFYVE23
This protein functions as a guanine nucleotide exchange factor that activates CDC42 by facilitating GDP-to-GTP exchange, regulating actin cytoskeleton organization, cell shape, and vascular endothelial cell functions including angiogenesis. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
FGD5 · 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