FGFR3

Cilia effects upon perturbation of FGFR3

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Severe achondroplasia - developmental delay - acanthosis nigricans; camptodactyly-tall stature-scoliosis-hearing loss syndrome; Camptodactyly - tall stature - scoliosis - hearing loss; severe achondroplasia-developmental delay-acanthosis nigricans syndrome; renal cell carcinoma

Subcellular localization

basal body, lysosomes, nucleus

References: PMID:30782830, PMID:29040558, PMID:29360984

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• ECM & connective tissue
• Cilia length regulation

Function

Interacts with ICK to regulate ciliogenesis and control ciliary length (30782830). FGFR3 signaling affects the elongation process of the primary cilia. Constitutively active FGFR3 perturbed cilia length, sorting and trafficking of intraflagellar transport 20 (29040558). Mutations in FGFR3 lead to short primary cilia, and constitutive activation of FGFR3 signaling produces the skeletal disorders achondroplasia and thanatophoric dysplasia (29360984).