FGFR3

fibroblast growth factor receptor 3

Ensembl:
ENSG00000068078
UniProt:
P22607
OMIM:
134934
Synonyms:
ACH, CD333, CEK2, JTK4

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

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 regular驴te ciliogenesis and control ciliary length (30782830). FGFR3 sig ling 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 sig ling produces the skeletal disorders achondroplasia and tha tophoric dysplasia (29360984).

Model organism evidence

Mus musculus (2 references)

We show that FGFR1 and FGFR2, but not FGFR3 and FGFR4, localize to primary cilia of the developing mouse tissues and in vitro cells.

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

PMIDs: 40257378, 29040558