FGF14

FGF14
Identifiers
Aliases	FGF14, FGF-14, FHF-4, FHF4, SCA27, fibroblast growth factor 14
External IDs	OMIM: 601515; MGI: 109189; HomoloGene: 3037; GeneCards: FGF14; OMA:FGF14 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) Band 13q33.1 Start 101,710,804 bp End 102,402,457 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14 E5|14 66.18 cM Start 124,215,319 bp End 124,914,539 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte middle temporal gyrus bronchial epithelial cell Brodmann area 23 cerebellar vermis endothelial cell postcentral gyrus superior frontal gyrus entorhinal cortex primary visual cortex Top expressed in lumbar subsegment of spinal cord lobe of cerebellum barrel cortex cerebellar vermis olfactory tubercle mammillary body superior frontal gyrus dentate gyrus of hippocampal formation granule cell suprachiasmatic nucleus supraoptic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function fibroblast growth factor receptor binding growth factor activity heparin binding protein binding Cellular component extracellular region nucleus intracellular anatomical structure Biological process regulation of synaptic vesicle recycling JNK cascade cell-cell signaling fibroblast growth factor receptor signaling pathway regulation of postsynaptic membrane potential signal transduction nervous system development regulation of synaptic plasticity positive regulation of high voltage-gated calcium channel activity regulation of signaling receptor activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2259 14169 Ensembl ENSG00000102466 ENSMUSG00000025551 UniProt Q92915 P70379 RefSeq (mRNA) NM_004115 NM_175929 NM_001321931 NM_001321932 NM_001321933 NM_001321934 NM_001321935 NM_001321936 NM_001321937 NM_001321938 NM_001321939 NM_001321940 NM_001321941 NM_001321942 NM_001321943 NM_001321944 NM_001321945 NM_001321946 NM_001321947 NM_001321948 NM_001321949 NM_001379342 NM_010201 NM_207667 RefSeq (protein) NP_001308860 NP_001308861 NP_001308862 NP_001308863 NP_001308864 NP_001308865 NP_001308866 NP_001308867 NP_001308868 NP_001308869 NP_001308870 NP_001308871 NP_001308872 NP_001308873 NP_001308874 NP_001308875 NP_001308876 NP_001308877 NP_001308878 NP_004106 NP_787125 NP_001366271 NP_034331 NP_997550 Location (UCSC) Chr 13: 101.71 – 102.4 Mb Chr 14: 124.22 – 124.91 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Fibroblast growth factor 14 is a biologically active protein that in humans is encoded by the FGF14 gene.

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. A mutation in this gene is associated with autosomal dominant cerebellar ataxia. Alternatively spliced transcript variants have been found for this gene.

FGF14 is mainly expressed in the central nervous system and is associated with neurodegenerative diseases such as spinocerebellar ataxia (SCA27). FGF14 deficiency also impairs the maturation of cells in the hippocampus, which is possibly related to the development of schizophrenia.

Relationship with Alzheimer's disease

FGF14 levels are elevated in patients with Alzheimer's disease. FGF14 messenger RNA was also found to be upregulated in Alzheimer's patients, which suggests that it is involved in the pathogenesis of the disease, although the underlying mechanism is still unknown. Research is ongoing as to whether or not FGF14 could be used as a therapy against Alzheimer's disease as well as other neurodegenerative diseases, by promote neural proliferation and regulating the plasticity of the synapses.

Further reading

• Wang Q, Bardgett ME, Wong M, et al. (2002). "Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14". Neuron. 35 (1): 25–38. doi:10.1016/S0896-6273(02)00744-4. PMID 12123606.
• Chumakov I, Blumenfeld M, Guerassimenko O, et al. (2002). "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. 99 (21): 13675–80. Bibcode:2002PNAS...9913675C. doi:10.1073/pnas.182412499. PMC 129739. PMID 12364586.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• van Swieten JC, Brusse E, de Graaf BM, et al. (2003). "A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia". Am. J. Hum. Genet. 72 (1): 191–9. doi:10.1086/345488. PMC 378625. PMID 12489043.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
• Popovici C, Conchonaud F, Birnbaum D, Roubin R (2004). "Functional phylogeny relates LET-756 to fibroblast growth factor 9". J. Biol. Chem. 279 (38): 40146–52. doi:10.1074/jbc.M405795200. PMID 15199049.
• Stevanin G, Durr A, Dussert C, et al. (2005). "Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians". Neurology. 63 (5): 936. doi:10.1212/01.wnl.0000137020.30604.1e. PMID 15365159. S2CID 35093587.
• Dalski A, Atici J, Kreuz FR, et al. (2005). "Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias". Eur. J. Hum. Genet. 13 (1): 118–20. doi:10.1038/sj.ejhg.5201286. PMID 15470364.
• Lou JY, Laezza F, Gerber BR, et al. (2006). "Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels". J. Physiol. 569 (Pt 1): 179–93. doi:10.1113/jphysiol.2005.097220. PMC 1464207. PMID 16166153.
• Brusse E, de Koning I, Maat-Kievit A, et al. (2006). "Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype". Mov. Disord. 21 (3): 396–401. doi:10.1002/mds.20708. PMID 16211615. S2CID 25438944.
• Zhao Y, Lim SW, Tan EK (2007). "Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (3): 395–6. doi:10.1002/ajmg.b.30472. PMID 17221845. S2CID 41536996.