IFT122

Cilia effects upon perturbation of IFT122

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.53) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.39) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

abnormal behavior, long tibia, decreased locomotor activity, preweaning lethality, complete penetrance, increased mean corpuscular volume

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Skeletal Ciliopathy
• Weyers Acrofacial Dysostosis

References: PMID:20493458, PMID:24027799, PMID:38637985, PMID:38161384

Subcellular localization

basal body, cilia, transition zone

References: PMID:41005307, PMID:21209331, PMID:27681595, PMID:29220510

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone
• Transcription regulation

Function

Negative regulator of the Shh pathway, controlling the ciliary localization of Shh pathway activators and repressors. Loss of IFT122 causes accumulation of Gli2 and Gli3 at cilia tips. Function in retrograde intraflagellar transport (ITF) that facilitates complex A stability (21209331). Required for transport of opsin, and the distal elongation of outer segments (27681595). IFT122 connects the core and peripheral subcomplexes of the IFT-A (29220510).