FGF14 Gene

Name	fibroblast growth factor 14
Description	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 cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Fibroblast growth factor 14 (FGF14) is an intracellular protein that plays a pivotal role in the regulation of neuronal excitability. It directly interacts with voltage‐gated sodium (Nav) channel α subunits—most notably Nav1.6—thereby modulating channel current density, voltage‐dependent activation and inactivation kinetics, and the generation of resurgent sodium currents that are essential for high‐frequency firing and proper action potential initiation in neurons such as cerebellar Purkinje cells and hippocampal neurons."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Alternative splicing of the FGF14 gene gives rise to distinct isoforms (for example, FGF14‐1a versus FGF14‐1b) that differentially affect Nav channel gating properties and subcellular targeting to axonal domains, a feature that is crucial for maintaining proper channel availability at the axon initial segment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its key role in modulating sodium channel function, FGF14 contributes to synaptic plasticity by influencing presynaptic vesicle dynamics and long‐term potentiation in the hippocampus, processes that underlie learning and memory."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Disruption of FGF14 function—whether by targeted gene deletion, pathogenic missense mutations, or copy‐number variation—leads to impaired excitability and abnormal firing in neurons, which manifests clinically as spinocerebellar ataxia type 27 (SCA27) and related episodic ataxias characterized by motor incoordination, tremor, dyskinesia, and, in some cases, cognitive deficits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings identify FGF14 as a critical modulator of neuronal ion channel dynamics and synaptic function, implicating its disruption in the pathogenesis of neurodegenerative and movement disorders and underscoring its potential as a therapeutic target."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "John C van Swieten, Esther Brusse, Bianca M de Graaf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/345488"}], "href": "https://doi.org/10.1086/345488"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12489043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12489043"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jun-Yang Lou, Fernanda Laezza, Benjamin R Gerber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Physiol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1113/jphysiol.2005.097220"}], "href": "https://doi.org/10.1113/jphysiol.2005.097220"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16166153"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16166153"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fernanda Laezza, Angelika Lampert, Marie A Kozel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Neurosci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mcn.2009.05.007"}], "href": "https://doi.org/10.1016/j.mcn.2009.05.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19465131"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19465131"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Vikram G Shakkottai, Maolei Xiao, Lin Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2008.09.019"}], "href": "https://doi.org/10.1016/j.nbd.2008.09.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18930825"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18930825"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Syed R Ali, Aditya K Singh, Fernanda Laezza "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Amino Acid Residues in Fibroblast Growth Factor 14 (FGF14) Required for Structure-Function Interactions with Voltage-gated Sodium Channel Nav1.6."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.703868"}], "href": "https://doi.org/10.1074/jbc.M115.703868"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26994141"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26994141"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Marie K Bosch, Yarimar Carrasquillo, Joseph L Ransdell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.2663-14.2015"}], "href": "https://doi.org/10.1523/JNEUROSCI.2663-14.2015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25926453"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25926453"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Maolei Xiao, Lin Xu, Fernanda Laezza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired hippocampal synaptic transmission and plasticity in mice lacking fibroblast growth factor 14."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Neurosci (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mcn.2006.11.020"}], "href": "https://doi.org/10.1016/j.mcn.2006.11.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17208450"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17208450"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Qing Wang, Mark E Bardgett, Michael Wong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0896-6273(02)00744-4"}], "href": "https://doi.org/10.1016/s0896-6273(02"}, {"type": "t", "text": "00744-4) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12123606"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12123606"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "S J Bensmaïa, J C Craig, T Yoshioka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SA1 and RA afferent responses to static and vibrating gratings."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurophysiol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/jn.00877.2005"}], "href": "https://doi.org/10.1152/jn.00877.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16236779"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16236779"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Julie Piarroux, Florence Riant, Véronique Humbertclaude, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Clin Transl Neurol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/acn3.51005"}], "href": "https://doi.org/10.1002/acn3.51005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32162847"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32162847"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Alexander S Shavkunov, Norelle C Wildburger, Miroslav N Nenov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.445924"}], "href": "https://doi.org/10.1074/jbc.M112.445924"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23640885"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23640885"}]}]}]}
Synonyms	FHF4, FGF-14, FHF-4, SCA27
Proteins	FGF14_HUMAN
NCBI Gene ID	2259
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FGF14 has 5,212 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for FGF14 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FGF14 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FGF14 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FGF14 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of FGF14 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FGF14 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FGF14 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FGF14 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of FGF14 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FGF14 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FGF14 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of FGF14 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FGF14 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FGF14 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FGF14 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FGF14 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FGF14 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FGF14 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with FGF14 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FGF14 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FGF14 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FGF14 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FGF14 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FGF14 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of FGF14 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FGF14 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with FGF14 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FGF14 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FGF14 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FGF14 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FGF14 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with FGF14 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with FGF14 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FGF14 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FGF14 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with FGF14 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FGF14 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FGF14 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FGF14 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FGF14 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FGF14 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FGF14 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.