IFT74
Chr 9ARintraflagellar transport 74
Also known as: BBS22, CCDC2, CMG-1, CMG1, JBTS40, SPGF58
The protein is a core component of the intraflagellar transport complex B that binds and transports tubulin within cilia, essential for ciliogenesis and flagellogenesis during spermatogenesis. Mutations cause autosomal recessive ciliopathies including Bardet-Biedl syndrome 22, Joubert syndrome 40, and spermatogenic failure 58. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IFT74 · 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
External Resources
Links to major genomics databases and tools