FGF14

fibroblast growth factor 14

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000102466
UniProt:
Q92915
OMIM:
601515
Synonyms:
FHF4, SCA27

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
Human ciliopathy phenotype:
spinocerebellar ataxia type 27; spinocerebellar ataxia 27A; late-onset spinocerebellar ataxia 27b

Ciliopathy associations

  • Spinocerebellar Ataxia

References: PMID:38609751, PMID:30017992, PMID:15470364

Subcellular localization

nucleus

References: PMID:40265983

Functional category

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

Function

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