FGF14

Cilia effects upon perturbation of FGF14

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-16.01) 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:

decreased grip strength, abnormal spleen morphology, abnormal skin morphology, preweaning lethality, incomplete penetrance, abnormal thyroid gland morphology, increased circulating alkaline phosphatase level, decreased body weight, enlarged thyroid gland

Mouse ciliopathy phenotype:

kyphosis, abnormal kidney morphology, abnormal spine curvature

Human ciliopathy phenotype:

spinocerebellar ataxia type 27; spinocerebellar ataxia 27A; late-onset spinocerebellar ataxia 27b

Ciliopathy associations

• Spinocerebellar Ataxia

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the FGF14 gene cause Spinocerebellar Ataxia (PMID: 30017992).