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 domin... See more...

Aliases for FGF14 Gene

Aliases for FGF14 Gene

  • Fibroblast Growth Factor 14 2 3 4 5
  • FHF4 2 3 4
  • Fibroblast Growth Factor Homologous Factor 4 3 4
  • FGF-14 3 4
  • FHF-4 3 4
  • SCA27 2 3
  • FGF14 5

External Ids for FGF14 Gene

Previous GeneCards Identifiers for FGF14 Gene

  • GC13M100735
  • GC13M096762
  • GC13M101211
  • GC13M100073
  • GC13M101173
  • GC13M102373
  • GC13M082966

Summaries for FGF14 Gene

Entrez Gene Summary for 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 cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FGF14 Gene

FGF14 (Fibroblast Growth Factor 14) is a Protein Coding gene. Diseases associated with FGF14 include Spinocerebellar Ataxia 27 and Uvula, Bifid. Among its related pathways are Cardiac conduction and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF12.

UniProtKB/Swiss-Prot Summary for FGF14 Gene

Gene Wiki entry for FGF14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF14 Gene

Genomics for FGF14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGF14 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J102399 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 268.8 +1.4 1393 3.5 ZIC2 CTCF SIN3A HNF4A TAF1 RAD21 ZFP36 SP1 EGR2 MAX FGF14 FGF14-IT1 FGF14-AS2 BIVM ITGBL1
GH13J101917 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250 +485.5 485521 0.9 CTCF YY1 RAD21 EZH2 SMC3 POLR2A ZBTB26 FGF14 lnc-NALCN-2 MIR2681 ITGBL1
GH13J102457 Enhancer 0.7 ENCODE 11.3 -55.1 -55079 0.1 ZNF654 ELK1 TRIM22 HOMEZ CTCF NR2C1 ELF1 RXRA RAD21 IRF4 FGF14 FGF14-IT1 FGF14-AS1 HSALNG0099022 HSALNG0099024 HSALNG0099021 TPP2
GH13J101448 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 5.2 +949.3 949254 9.4 JUND CEBPB DEK CTCF MAX EP300 PRDM1 RAD21 RFX5 STAT3 ITGBL1 NALCN HMGB3P7 FGF14 lnc-PCCA-4
GH13J101520 Enhancer 0.8 Ensembl ENCODE dbSUPER 9.1 +881.3 881310 1.9 JUND MAFK ATF2 CREB1 POLR2A EP300 ATF7 RNU1-24P FGF14 HMGB3P7 NALCN lnc-PCCA-4 ITGBL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF14

Top Transcription factor binding sites by QIAGEN in the FGF14 gene promoter:
  • NRSF form 1
  • NRSF form 2
  • TBP

Genomic Locations for FGF14 Gene

Latest Assembly
691,654 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
691,640 bases
Minus strand

(GRCh37/hg19 by Ensembl)
681,991 bases
Minus strand

Genomic View for FGF14 Gene

Genes around FGF14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF14 Gene

Proteins for FGF14 Gene

  • Protein details for FGF14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fibroblast growth factor 14
    Protein Accession:
    Secondary Accessions:
    • Q86YN7
    • Q96QX6

    Protein attributes for FGF14 Gene

    247 amino acids
    Molecular mass:
    27702 Da
    Quaternary structure:
    • Interacts with SCN8A (PubMed:26900580).

    Alternative splice isoforms for FGF14 Gene


neXtProt entry for FGF14 Gene

Post-translational modifications for FGF14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FGF14 Gene

Domains & Families for FGF14 Gene

Gene Families for FGF14 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FGF14 Gene

  • Heparin binding growth factor family signature
  • IL1/HBGF family signature

Suggested Antigen Peptide Sequences for FGF14 Gene

GenScript: Design optimal peptide antigens:
  • Fibroblast growth factor homologous factor 4 (FGF14_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the heparin-binding growth factors family.
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF14: view

Function for FGF14 Gene

Molecular function for FGF14 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in nervous system development and function.
GENATLAS Biochemistry:
fibroblast growth homologous factor 14,expressed principally in the nervous system

Phenotypes From GWAS Catalog for FGF14 Gene

Gene Ontology (GO) - Molecular Function for FGF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26900580
GO:0008083 growth factor activity TAS,IEA --
GO:0008201 heparin binding IDA --
GO:0017080 sodium channel regulator activity IBA 21873635
genes like me logo Genes that share ontologies with FGF14: view
genes like me logo Genes that share phenotypes with FGF14: view

Human Phenotype Ontology for FGF14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF14 Gene

MGI Knock Outs for FGF14:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF14 Gene

Localization for FGF14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF14 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF14 gene
Compartment Confidence
extracellular 4
nucleus 4
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FGF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with FGF14: view

Pathways & Interactions for FGF14 Gene

PathCards logo

SuperPathways for FGF14 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 GPCR Pathway
3 TGF-Beta Pathway
4 ERK Signaling
5 Nanog in Mammalian ESC Pluripotency
genes like me logo Genes that share pathways with FGF14: view

Pathways by source for FGF14 Gene

1 BioSystems pathway for FGF14 Gene
1 KEGG pathway for FGF14 Gene
59 Qiagen pathways for FGF14 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for FGF14 Gene

Gene Ontology (GO) - Biological Process for FGF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8790420
GO:0007254 JNK cascade IPI --
GO:0007267 cell-cell signaling TAS 8790420
GO:0007399 nervous system development TAS,IEA --
GO:0048167 regulation of synaptic plasticity IEA --
genes like me logo Genes that share ontologies with FGF14: view

Drugs & Compounds for FGF14 Gene

(1) Additional Compounds for FGF14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGF14: view

Transcripts for FGF14 Gene

mRNA/cDNA for FGF14 Gene

5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF14

Alternative Splicing Database (ASD) splice patterns (SP) for FGF14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11
SP1: - - - - - - - - - -
SP2: - - -
SP4: -

Relevant External Links for FGF14 Gene

GeneLoc Exon Structure for

Expression for FGF14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF14 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.2), Brain - Nucleus accumbens (basal ganglia) (x4.8), Brain - Frontal Cortex (BA9) (x4.8), Brain - Hypothalamus (x4.7), Brain - Cerebellum (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.0).

Protein differential expression in normal tissues from HIPED for FGF14 Gene

This gene is overexpressed in Plasma (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FGF14 Gene

Protein tissue co-expression partners for FGF14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF14

SOURCE GeneReport for Unigene cluster for FGF14 Gene:


mRNA Expression by UniProt/SwissProt for FGF14 Gene:

Tissue specificity: Nervous system.

Evidence on tissue expression from TISSUES for FGF14 Gene

  • Nervous system(4.6)
  • Eye(4.3)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • mouth
  • neck
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with FGF14: view

Orthologs for FGF14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF14 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FGF14 29 30
  • 99.73 (n)
(Ornithorhynchus anatinus)
Mammalia FGF14 30
  • 98 (a)
(Mus musculus)
Mammalia Fgf14 29 16 30
  • 95.01 (n)
(Rattus norvegicus)
Mammalia Fgf14 29
  • 94.33 (n)
(Canis familiaris)
Mammalia FGF14 29 30
  • 92.98 (n)
(Monodelphis domestica)
Mammalia FGF14 30
  • 78 (a)
(Bos Taurus)
Mammalia -- 30
  • 68 (a)
(Gallus gallus)
Aves FGF14 30
  • 76 (a)
(Anolis carolinensis)
Reptilia FGF14 30
  • 77 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgf14 29
  • 85.96 (n)
Str.13744 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.32735 29
(Danio rerio)
Actinopterygii fgf14 29 30
  • 80.85 (n)
Species where no ortholog for FGF14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FGF14 Gene

Gene Tree for FGF14 (if available)
Gene Tree for FGF14 (if available)
Evolutionary constrained regions (ECRs) for FGF14: view image
Alliance of Genome Resources:
Additional Orthologs for FGF14

Paralogs for FGF14 Gene

(12) SIMAP similar genes for FGF14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FGF14: view

Variants for FGF14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF14 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
872452 Likely Benign: not provided 101,722,882(-) C/A
NM_004115.4(FGF14):c.693G>T (p.Ala231=)
873432 Uncertain Significance: Spinocerebellar ataxia type 27 101,722,923(-) C/A
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)
880904 Uncertain Significance: Spinocerebellar ataxia type 27 101,720,883(-) G/A
880905 Uncertain Significance: Spinocerebellar ataxia type 27 101,720,913(-) A/G
880906 Uncertain Significance: Spinocerebellar ataxia type 27 101,721,059(-) G/T

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGF14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FGF14 Gene

Variant ID Type Subtype PubMed ID
dgv1024n106 CNV deletion 24896259
dgv1733n100 CNV loss 25217958
esv1010266 CNV deletion 20482838
esv1625125 CNV deletion 17803354
esv2005005 CNV deletion 18987734
esv2098077 CNV deletion 18987734
esv2451556 CNV deletion 19546169
esv2546035 CNV deletion 19546169
esv2659511 CNV deletion 23128226
esv2662927 CNV deletion 23128226
esv2662978 CNV deletion 23128226
esv2665206 CNV deletion 23128226
esv2747899 CNV deletion 23290073
esv2747900 CNV deletion 23290073
esv2747901 CNV deletion 23290073
esv2747902 CNV deletion 23290073
esv2747903 CNV deletion 23290073
esv2747904 CNV deletion 23290073
esv2747905 CNV deletion 23290073
esv2747906 CNV deletion 23290073
esv2747908 CNV deletion 23290073
esv2759960 CNV loss 17122850
esv3231 CNV loss 18987735
esv3297 CNV loss 18987735
esv3302816 CNV tandem duplication 20981092
esv3306143 CNV mobile element insertion 20981092
esv3326940 CNV duplication 20981092
esv3399229 CNV insertion 20981092
esv3439313 CNV insertion 20981092
esv34672 CNV loss 17911159
esv3550992 CNV deletion 23714750
esv3580866 CNV loss 25503493
esv3633367 CNV loss 21293372
esv3633368 CNV loss 21293372
esv3633369 CNV loss 21293372
esv3633372 CNV loss 21293372
esv3633374 CNV loss 21293372
esv3633375 CNV loss 21293372
esv9192 CNV gain 19470904
nsv1044601 CNV loss 25217958
nsv1049015 CNV gain 25217958
nsv1110695 CNV insertion 24896259
nsv1116730 CNV tandem duplication 24896259
nsv1121499 CNV deletion 24896259
nsv1133201 CNV tandem duplication 24896259
nsv1152 CNV insertion 18451855
nsv1153 CNV deletion 18451855
nsv1155 CNV insertion 18451855
nsv456098 CNV gain 19166990
nsv478685 CNV novel sequence insertion 20440878
nsv507730 OTHER sequence alteration 20534489
nsv524907 CNV loss 19592680
nsv562977 CNV gain 21841781
nsv562978 CNV loss 21841781
nsv63965 CNV deletion 16902084
nsv819119 CNV gain 19587683
nsv826772 CNV gain 20364138
nsv832702 CNV gain 17160897
nsv832704 CNV gain 17160897
nsv832705 CNV gain 17160897
nsv832706 CNV gain 17160897
nsv957469 CNV deletion 24416366
nsv958123 CNV deletion 24416366
nsv958138 CNV deletion 24416366
nsv976149 CNV duplication 23825009

Variation tolerance for FGF14 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGF14 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF14 Gene

Disorders for FGF14 Gene

MalaCards: The human disease database

(29) MalaCards diseases for FGF14 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
spinocerebellar ataxia 27
  • sca27
uvula, bifid
  • uvula, cleft
pectus carinatum
  • carinatum deformity of the chest
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
  • far-sightedness
- elite association - COSMIC cancer census association via MalaCards
Search FGF14 in MalaCards View complete list of genes associated with diseases


  • Spinocerebellar ataxia 27 (SCA27) [MIM:609307]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits. {ECO:0000269 PubMed:12489043}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FGF14

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FGF14: view

No data available for Genatlas for FGF14 Gene

Publications for FGF14 Gene

  1. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. (PMID: 15470364) Dalski A … Zühlke C (European journal of human genetics : EJHG 2005) 3 4 22 40
  2. Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. (PMID: 17236779) Wozniak DF … Ornitz DM (Neurobiology of disease 2007) 2 3 22
  3. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PMID: 15148151) Brusco A … Taroni F (Archives of neurology 2004) 3 22 40
  4. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. (PMID: 12489043) van Swieten JC … Heutink P (American journal of human genetics 2003) 3 4 72
  5. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. (PMID: 8790420) Smallwood PM … Nathans J (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4

Products for FGF14 Gene

Sources for FGF14 Gene