FOXJ1
Chr 17ADforkhead box J1
Also known as: CILD43, FKHL13, HFH-4, HFH4
FOXJ1 encodes a forkhead transcription factor that specifically activates genes required for motile cilia formation and assembly. Mutations cause primary ciliary dyskinesia with autosomal dominant inheritance, affecting respiratory function and potentially other ciliated tissues. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.28), indicating mutations are likely to have significant clinical consequences.
Definitive — sufficient evidence for diagnostic panels
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).
Literature Evidence
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
FOXJ1 · 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