FGF8
fibroblast growth factor 8
- Ensembl:
- ENSG00000107831
- UniProt:
- P55075
- OMIM:
- 600483
- Synonyms:
- AIGF
Cilia effects upon perturbation of FGF8
- Cilia number / % ciliated:
- No effect
- Loss-of-function effect:
- No effect
- Overexpression effect:
- No effect
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.98) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance
- Human ciliopathy phenotype:
- hypogonadotropic hypogonadism 6 with or without anosmia
Ciliopathy associations
- Acrocallosal Syndrome
- Kallmann Syndrome
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Neurogenesis & migration
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Axon guidance & growth
- Transcription regulation
- Cilia length regulation
Function
Kupffer's vesicle is not only required for normal asymmetric development of the viscera, but also that in the absence of fgf8, this ciliated organ directs aberrant asymmetric development of the pharyngeal skeleton ( 15932752).Fgf8 and Fgf24 both signal through FGFR1 to maintain normal cilia length. Loss of both causes pronounced shortening(PMID: 19242413).
Model organism evidence
Mus musculus (1 reference)
This comprehensive review explores the FGF8 expression in humans and mice, summarizes the involvement of FGF8 in various tissues including craniofacial, limbs, cardiovascular and urogenital system, nephrogenesis, lung, and brain development as well as developmental abnormalities resulting from t
PMIDs: 40575596