FGFR2
fibroblast growth factor receptor 2
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000066468
- UniProt:
- P21802
- OMIM:
- 176943
- Synonyms:
- BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
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
Subcellular localization
cilia, lysosomes, nucleus
References: PMID:40257378
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 signaling 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).