FGFR2

fibroblast growth factor receptor 2

Ensembl:
ENSG00000066468
UniProt:
P21802
OMIM:
176943
Synonyms:
BEK, CD332, CEK3, CFD1, ECT1

Cilia effects upon perturbation of FGFR2

Cilia number / % ciliated:
No effect
Loss-of-function effect:
No effect
Overexpression effect:
Shorter cilia

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • 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
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.36) PMID:20393562

Ciliopathy associations

  • Greig Cephalopolysyndactyly Syndrome

Subcellular localization

cilia, lysosomes, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transcription regulation
  • Cilia length regulation

Function

FGFR1 and FGFR2, but not FGFR3 and FGFR4, localize to primary cilia of the developing mouse tissues and in vitro cells. For FGFR2, we demonstrate that the ciliary residence is necessary for its sig ling and expression of target morphogenic genes (40257378).Disease-associated activating mutations (e.g., p.N550K, p.P253R, p.C342R, p.M391R) of FGFR2 shorten primary cilia by 10–24%.Loss of function of FGFR2 didn't affect cilia length and ciliated cell percentage(PMID: 40257378).

Model organism evidence

Mus musculus (2 references)

FGFR2 residence in primary cilia is necessary for epithelial cell signaling.

We found that Fgfr2 was required for the expression of Bmp4, the normal distribution of Shh signaling and for preserving the differentiation of the conjunctival epithelium.

PMIDs: 40257378, 19369394