IFT140

Chr 16ADAR

intraflagellar transport 140

Also known as: CED5, MZSDS, PKD9, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1

NCBI Gene: 9742 ENSG00000187535 UniProt: Q96RY7 OMIM: 614620

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Polycystic kidney disease 9, susceptibility to}MIM #621164

Cranioectodermal dysplasia 5MIM #621180

Retinitis pigmentosa 80MIM #617781

Short-rib thoracic dysplasia 9 with or without polydactylyMIM #266920

Clinical highlights

Gene-disease validity (ClinGen)

IFT140-related recessive ciliopathy · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P