IFT74

Chr 9AR

intraflagellar transport 74

Also known as: BBS22, CCDC2, CMG-1, CMG1, JBTS40, SPGF58

NCBI Gene: 80173 ENSG00000096872 UniProt: Q96LB3 OMIM: 608040

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 22MIM #617119

Joubert syndrome 40MIM #619582

Spermatogenic failure 58MIM #619585

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy-IFT74 · ARDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P

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GeneReview available — IFT74