FGF14

Summary

Gene Symbol: FGF14
Description: fibroblast growth factor 14
Alias: FGF-14, FHF-4, FHF4, SCA27, fibroblast growth factor 14, bA397O8.2, fibroblast growth factor homologous factor 4
Species: human
Products:     FGF14

Top Publications

  1. Wang Q, Bardgett M, Wong M, Wozniak D, Lou J, McNeil B, et al. Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Neuron. 2002;35:25-38 pubmed
    b>Fibroblast growth factor 14 (FGF14) belongs to a distinct subclass of FGFs that is expressed in the developing and adult CNS...
  2. Shavkunov A, Wildburger N, Nenov M, James T, Buzhdygan T, Panova Elektronova N, et al. The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3). J Biol Chem. 2013;288:19370-85 pubmed publisher
    The FGF14 protein controls biophysical properties and subcellular distribution of neuronal voltage-gated Na(+) (Nav) channels through direct binding to the channel C terminus...
  3. Wozniak D, Xiao M, Xu L, Yamada K, Ornitz D. Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. Neurobiol Dis. 2007;26:14-26 pubmed
    ..SCA27 is caused by an autosomal dominant missense mutation in Fibroblast Growth Factor 14 (FGF14)...
  4. Brusse E, de Koning I, Maat Kievit A, Oostra B, Heutink P, van Swieten J. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord. 2006;21:396-401 pubmed
    ..of a Dutch pedigree displaying a distinct SCA-phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34...
  5. Lou J, Laezza F, Gerber B, Xiao M, Yamada K, Hartmann H, et al. Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels. J Physiol. 2005;569:179-93 pubmed
    Genetic ablation of the fibroblast growth factor (Fgf) 14 gene in mice or a missense mutation in Fgf14 in humans causes ataxia and cognitive deficits...
  6. Sowers M, Re J, Wadsworth P, Shavkunov A, Lichti C, Zhang K, et al. Sex-Specific Proteomic Changes Induced by Genetic Deletion of Fibroblast Growth Factor 14 (FGF14), a Regulator of Neuronal Ion Channels. Proteomes. 2019;7: pubmed publisher
    b>Fibroblast growth factor 14 (FGF14) is a member of the intracellular FGFs, which is a group of proteins involved in neuronal ion channel regulation and synaptic transmission...
  7. Liu Z, Wadsworth P, Singh A, Chen H, Wang P, Folorunso O, et al. Identification of peptidomimetics as novel chemical probes modulating fibroblast growth factor 14 (FGF14) and voltage-gated sodium channel 1.6 (Nav1.6) protein-protein interactions. Bioorg Med Chem Lett. 2019;29:413-419 pubmed publisher
    ..Protein-protein interactions (PPI) between the intracellular Nav1.6 C-tail and its regulatory protein fibroblast growth factor 14 (FGF14) provide an ideal and largely untapped opportunity for development of neurochemical probes...
  8. Zhang P, He Q, Lei Y, Li Y, Wen X, Hong M, et al. m6A-mediated ZNF750 repression facilitates nasopharyngeal carcinoma progression. Cell Death Dis. 2018;9:1169 pubmed publisher
    ..Chromatin immunoprecipitation sequencing identified that ZNF750 directly regulated FGF14 (encoding fibroblast growth factor 14), ablation of which reversed ZNF750's tumor repressor effect...
  9. Kettunen P, Furmanek T, Chaulagain R, Kvinnsland I, Luukko K. Developmentally regulated expression of intracellular Fgf11-13, hormone-like Fgf15 and canonical Fgf16, -17 and -20 mRNAs in the developing mouse molar tooth. Acta Odontol Scand. 2011;69:360-6 pubmed publisher
    ..patterns for the Fgf11-13, -15-17 and -20, in particular in the epithelial-mesenchymal interface, whereas Fgf14 and 18 mRNAs were not detected...

More Information

Publications50

  1. Ali S, Shavkunov A, Panova N, Stoilova McPhie S, Laezza F. Modulation of the FGF14:FGF14 homodimer interaction through short peptide fragments. CNS Neurol Disord Drug Targets. 2014;13:1559-70 pubmed
    b>Fibroblast growth factor 14 (FGF14) is a member of the intracellular FGF (iFGFs) family and a functionally relevant component of the neuronal voltage-gated Na(+) (Nav) channel complex...
  2. Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, et al. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. Eur J Med Genet. 2019;62:172-176 pubmed publisher
    Spinocerebellar ataxia 27 (SCA27) is an autosomal dominant SCA caused by variants in the fibroblast growth factor 14 (FGF14) gene. We examined a Japanese SCA patient whose deceased father also suffered from SCA...
  3. Bosch M, Carrasquillo Y, Ransdell J, Kanakamedala A, Ornitz D, Nerbonne J. Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance. J Neurosci. 2015;35:6752-69 pubmed publisher
    Mutations in FGF14, which encodes intracellular fibroblast growth factor 14 (iFGF14), have been linked to spinocerebellar ataxia (SCA27)...
  4. Hoxha E, Marcinnò A, Montarolo F, Masante L, Balbo I, Ravera F, et al. Emerging roles of Fgf14 in behavioral control. Behav Brain Res. 2019;356:257-265 pubmed publisher
    ..However, the molecular mechanisms involved in the control of these behaviors are largely unknown. FGF14, which is an intracellular protein controlling neuronal excitability and synaptic transmission, has been implied ..
  5. Yan H, Pablo J, Wang C, Pitt G. FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons. elife. 2014;3:e04193 pubmed publisher
    ..In this study, we show that the NaV channel auxiliary subunit FGF14 'b' isoform, a locus for inherited spinocerebellar ataxias, controls resurgent current and repetitive firing in ..
  6. Zagajewska K, Piatkowska M, Goryca K, Bałabas A, Kluska A, Paziewska A, et al. GWAS links variants in neuronal development and actin remodeling related loci with pseudoexfoliation syndrome without glaucoma. Exp Eye Res. 2018;168:138-148 pubmed publisher
    ..nine other SNPs were located within gene regions, including in OR11L1, CD80, TNIK, CADM2, SORBS2, RNF180, FGF14, FMN1, and RBFOX1 genes. None of these associations with PEXS has previously been reported...
  7. Baty F, Klingbiel D, Zappa F, Brutsche M. High-throughput alternative splicing detection using dually constrained correspondence analysis (DCCA). J Biomed Inform. 2015;58:175-185 pubmed publisher
    ..proliferation and differentiation (PDE4D, FLT3, IL1R2), cell invasion (ETV1), as well as tumor growth (OLFM4, FGF14), tumor necrosis (AFF3) or tumor suppression (TUSC3, CSMD1, RHOBTB2, SERPINB5), with indication of known ..
  8. Singh H, Rajeswari M. Role of long purine stretches in controlling the expression of genes associated with neurological disorders. Gene. 2015;572:175-83 pubmed publisher
    ..pathways whose dysregulation is correlated directly with pathogenesis: GRK5 and KLK6 in Alzheimer's disease; FGF14 in craniosynostosis, mental retardation and FLT1 in neuroferritinopathy...
  9. Hsu W, Scala F, Nenov M, Wildburger N, Elferink H, Singh A, et al. CK2 activity is required for the interaction of FGF14 with voltage-gated sodium channels and neuronal excitability. FASEB J. 2016;30:2171-86 pubmed publisher
    Recent data shows that fibroblast growth factor 14 (FGF14) binds to and controls the function of the voltage-gated sodium (Nav) channel with phenotypic outcomes on neuronal excitability...
  10. Tim C, Bossini P, Kido H, Malavazi I, Von Zeska Kress M, Carazzolle M, et al. Effects of low level laser therapy on inflammatory and angiogenic gene expression during the process of bone healing: A microarray analysis. J Photochem Photobiol B. 2016;154:8-15 pubmed publisher
    ..related to the inflammatory process (MMD, PTGIR, PTGS2, Ptger2, IL1, 1IL6, IL8, IL18) and the angiogenic genes (FGF14, FGF2, ANGPT2, ANGPT4 and PDGFD) at 36h and 3days, followed by the decrease of the gene expression on day 7...
  11. Yang F, Liu Y, Dong S, Ma R, Bhandari A, Zhang X, et al. A novel long non-coding RNA FGF14-AS2 is correlated with progression and prognosis in breast cancer. Biochem Biophys Res Commun. 2016;470:479-483 pubmed publisher
    ..In this study, we demonstrated that FGF14 antisense RNA 2 (FGF14-AS2), a novel long non-coding RNA, was significantly down-regulated in breast cancer tissue ..
  12. Tan C, Wu Z, Ren J, Huang Z, Liu D, He X, et al. Genome-wide association study and accuracy of genomic prediction for teat number in Duroc pigs using genotyping-by-sequencing. Genet Sel Evol. 2017;49:35 pubmed publisher
    ..7 and 79.7 Mb on chromosome 11, where SNPs in the FGF14 gene had the most significant effect and accounted for 5.1% of the genomic additive heritability and 5...
  13. Tempia F, Hoxha E, Negro G, Alshammari M, Alshammari T, Panova Elektronova N, et al. Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. Front Cell Neurosci. 2015;9:205 pubmed publisher
    Genetically inherited mutations in the fibroblast growth factor 14 (FGF14) gene lead to spinocerebellar ataxia type 27 (SCA27), an autosomal dominant disorder characterized by heterogeneous motor and cognitive impairments...
  14. Usami M, Okada A, Taguchi K, Hamamoto S, Kohri K, Yasui T. Genetic differences in C57BL/6 mouse substrains affect kidney crystal deposition. Urolithiasis. 2018;46:515-522 pubmed publisher
    ..The expression levels of six genes (Snap29, Fgf14, Aplp2, Lims1, Naaladl2, and Nnt) were investigated by quantitative polymerase chain reaction, and the protein ..
  15. Bosch M, Nerbonne J, Townsend R, Miyazaki H, Nukina N, Ornitz D, et al. Proteomic analysis of native cerebellar iFGF14 complexes. Channels (Austin). 2016;10:297-312 pubmed publisher
    Intracellular Fibroblast Growth Factor 14 (iFGF14) and the other intracellular FGFs (iFGF11-13) regulate the properties and densities of voltage-gated neuronal and cardiac Na(+) (Nav) channels...
  16. Coutelier M, Coarelli G, Monin M, Konop J, Davoine C, Tesson C, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140:1579-1594 pubmed publisher
    ..Variants in AFG3L2 (n = 7) came next in frequency, and variants were rarely found in STBN2 (n = 2), ELOVL5, FGF14, STUB1 and TTBK2 (n = 1 each). Interestingly, possible risk factor variants were detected in SPG7 and POLG...
  17. Alshammari M, Alshammari T, Laezza F. Improved Methods for Fluorescence Microscopy Detection of Macromolecules at the Axon Initial Segment. Front Cell Neurosci. 2016;10:5 pubmed publisher
    ..we designed improved protocols targeted to confocal immunofluorescence detection of the AIS marker fibroblast growth factor 14 (FGF14) in combination with the cytoskeletal-associated protein Ankyrin-G, the scaffolding protein βIV-..
  18. Coebergh J, Fransen van de Putte D, Snoeck I, Ruivenkamp C, van Haeringen A, Smit L. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. Eur J Paediatr Neurol. 2014;18:413-5 pubmed publisher
    ..The grandmother predominantly had a postural tremor. FGF14 regulates brain sodium channels, especially in the cerebellum. Sodium channels can be fever sensitive...
  19. Ali S, Singh A, Laezza F. Identification of Amino Acid Residues in Fibroblast Growth Factor 14 (FGF14) Required for Structure-Function Interactions with Voltage-gated Sodium Channel Nav1.6. J Biol Chem. 2016;291:11268-84 pubmed publisher
    ..This channel is regulated by a number of accessory proteins including fibroblast growth factor 14 (FGF14), a member of the intracellular FGF family...
  20. Olsen S, Garbi M, Zampieri N, Eliseenkova A, Ornitz D, Goldfarb M, et al. Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs. J Biol Chem. 2003;278:34226-36 pubmed
    ..FGF homologous factors (FHF1-FHF4; also known as FGF11-FGF14) are related to FGFs by substantial sequence homology, yet their only documented interactions are with an ..
  21. Lezmy J, Lipinsky M, Khrapunsky Y, Patrich E, Shalom L, Peretz A, et al. M-current inhibition rapidly induces a unique CK2-dependent plasticity of the axon initial segment. Proc Natl Acad Sci U S A. 2017;114:E10234-E10243 pubmed publisher
    ..compensatory alterations were associated with a distal shift of the spike trigger zone and distal relocation of FGF14, Na+, and Kv7 channels but not ankyrin G...
  22. Wagnon J, Barker B, Hounshell J, Haaxma C, Shealy A, Moss T, et al. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2016;3:114-23 pubmed publisher
    ..Interactions with FGF14, G-protein subunit Gβγ, and sodium channel subunit β1 were assessed by coimmunoprecipitation...
  23. Hsu W, Wildburger N, Haidacher S, Nenov M, Folorunso O, Singh A, et al. PPARgamma agonists rescue increased phosphorylation of FGF14 at S226 in the Tg2576 mouse model of Alzheimer's disease. Exp Neurol. 2017;295:1-17 pubmed publisher
    ..We found that S226 phosphorylation of fibroblast growth factor 14 (FGF14), an accessory protein of the voltage-gated Na+ (Nav) channels required for neuronal ..
  24. Alshammari M, Alshammari T, Nenov M, Scala F, Laezza F. Fibroblast Growth Factor 14 Modulates the Neurogenesis of Granule Neurons in the Adult Dentate Gyrus. Mol Neurobiol. 2016;53:7254-7270 pubmed
    ..Here, we provide evidence for a previously undescribed function of fibroblast growth factor 14 (FGF14), a brain disease-associated factor that controls neuronal excitability and synaptic plasticity, ..
  25. Choquet K, La Piana R, Brais B. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. 2015;16:233-6 pubmed publisher
    ..This revealed a novel heterozygous mutation c.211_212insA (p.I71NfsX27) leading to a premature stop codon in FGF14. Mutations in FGF14 are known to cause spinocerebellar ataxia type 27 (SCA27)...
  26. Zhao L, Bracken M, Dewan A. Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. Ann Hum Genet. 2013;77:277-87 pubmed publisher
    ..Several variants were suggestively replicated in SOPHIA. The discovered SNPs and copy-number variable regions present interesting candidate genetic variants for pre-eclampsia that warrant further replication and investigation. ..
  27. Smith J, Avery C, Evans D, Nalls M, Meng Y, Smith E, et al. Impact of ancestry and common genetic variants on QT interval in African Americans. Circ Cardiovasc Genet. 2012;5:647-55 pubmed publisher
    ..In addition, our genome-wide association study extends the association of polymorphisms at several loci associated with repolarization in individuals of European ancestry to include individuals of African ancestry. ..
  28. Chen Z, Li X, Tang B, Wang J, Shi Y, Sun Z, et al. Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population. Neurosci Lett. 2012;520:16-9 pubmed publisher
    ..Recently, mutations in the fibroblast growth factor 14 gene (FGF14) have been reported to cause SCA27 subtype...
  29. Mick E, McGough J, Middleton F, Neale B, Faraone S. Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2011;35:466-72 pubmed publisher
  30. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61:727-33 pubmed
    ..at present associated with 22 loci (spinocerebellar ataxia [SCA] 1-SCA8, SCA10-SCA19, SCA21, SCA22, fibroblast growth factor 14 [FGF14]-SCA, and dentatorubral-pallidoluysian atrophy [DRPLA])...
  31. Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. 2004;63:936 pubmed
  32. Smallwood P, Munoz Sanjuan I, Tong P, Macke J, Hendry S, Gilbert D, et al. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. Proc Natl Acad Sci U S A. 1996;93:9850-7 pubmed
    ..Each FHF is expressed in the developing and adult nervous systems, suggesting a role for this branch of the FGF family in nervous system development and function. ..
  33. Choi K, Kim J, Kim H, Jung I, Jeong S, Lee S, et al. Genetic Variants Associated with Episodic Ataxia in Korea. Sci Rep. 2017;7:13855 pubmed publisher
    ..of EA genes, potential pathogenic mutations were identified in the candidate genes ATP1A2, SCN1A, TTBK2, TGM6, FGF14, and KCND3...
  34. Pablo J, Pitt G. FGF14 is a regulator of KCNQ2/3 channels. Proc Natl Acad Sci U S A. 2017;114:154-159 pubmed publisher
    ..Here, we show that fibroblast growth factor 14 (FGF14), previously described as a VGSC regulator, also affects KCNQ function and localization...
  35. Alshammari T, Alshammari M, Nenov M, Hoxha E, Cambiaghi M, Marcinno A, et al. Genetic deletion of fibroblast growth factor 14 recapitulates phenotypic alterations underlying cognitive impairment associated with schizophrenia. Transl Psychiatry. 2016;6:e806 pubmed publisher
    ..Here we show that in animal models, genetic deletion of fibroblast growth factor 14 (Fgf14), a regulator of neuronal excitability and synaptic transmission, leads to loss of PV ..
  36. Hsu W, Nenov M, Shavkunov A, Panova N, Zhan M, Laezza F. Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation. PLoS ONE. 2015;10:e0117246 pubmed publisher
    ..potential in neurons and mediates synaptic transmission, and its multivalent accessory protein, the fibroblast growth factor 14 (FGF14)...
  37. Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, et al. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A. 2002;99:13675-80 pubmed
  38. Greliche N, Germain M, Lambert J, Cohen W, Bertrand M, Dupuis A, et al. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. BMC Med Genet. 2013;14:36 pubmed publisher
    ..This study, the first genome-wide SNP interaction analysis conducted so far on VT risk, suggests that common SNPs are unlikely exerting strong interactive effects on the risk of disease. ..
  39. Zhao Y, Lim S, Tan E. Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:395-6 pubmed
  40. Dalski A, Atici J, Kreuz F, Hellenbroich Y, Schwinger E, Zühlke C. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet. 2005;13:118-20 pubmed
    ..Recently, a missense mutation in the fibroblast growth factor 14 gene (FGF14) has been reported in a Dutch family with a new dominantly inherited form of SCA...
  41. van Swieten J, Brusse E, de Graaf B, Krieger E, van de Graaf R, de Koning I, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet. 2003;72:191-9 pubmed
    ..progressive cerebellar ataxia, not associated with any of the known SCA loci, and a mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34...