IFT140
Chr 16ADARintraflagellar transport 140
Also known as: CED5, MZSDS, PKD9, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1
The protein is a component of intraflagellar transport complex A, which is required for retrograde ciliary transport and proper development and function of ciliated cells. Mutations cause a spectrum of ciliopathies including cranioectodermal dysplasia, short-rib thoracic dysplasia with or without polydactyly, retinitis pigmentosa, and polycystic kidney disease. Inheritance is both autosomal dominant and autosomal recessive depending on the specific condition and variant.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
IFT140 · 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