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Aliases for FGF14 Gene

Aliases for FGF14 Gene

  • Fibroblast Growth Factor 14 2 3 5
  • Fibroblast Growth Factor Homologous Factor 4 3 4
  • FGF-14 3 4
  • FHF-4 3 4
  • FHF4 3 4
  • BA397O8.2 3
  • SCA27 3

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 Spinocerebellar Ataxia Type27. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. 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 for FGF14 Gene

  • Probably involved in nervous system development and function.

Gene Wiki entry for FGF14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF14 Gene

Genomics for FGF14 Gene

Regulatory Elements for FGF14 Gene

Enhancers for FGF14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G102399 1.3 FANTOM5 Ensembl ENCODE 18.8 +2.2 2216 1.8 CTCF SUZ12 TAF1 CHD1 CBX2 REST ZIC2 RAD21 ZFHX2 KDM1A FGF14 FGF14-AS2 BIVM GC13P102395
GH13G101520 1.1 Ensembl ENCODE dbSUPER 9.1 +881.2 881194 1.7 JUND GATA2 JUN CREB1 FOS ATF2 MAFK RNU1-24P FGF14 HMGB3P7 NALCN GC13M101537 ITGBL1
GH13G102457 0.8 ENCODE 11.3 -55.1 -55079 0.1 ELF3 CTCF PKNOX1 ETV1 TEAD4 MAX ZNF644 RAD21 RELA YY1 FGF14 FGF14-IT1 FGF14-AS1 GC13M102485
GH13G101448 1.4 FANTOM5 Ensembl ENCODE 5.2 +949.3 949255 9.4 CTCF MXI1 JUN MAX SIN3A RAD21 RFX5 GATA2 POLR2A PATZ1 ITGBL1 NALCN HMGB3P7 FGF14 GC13M101537
GH13G101515 0.6 dbSUPER 9.6 +886.4 886401 2.1 CTCF PKNOX1 ZNF654 JUND SMC3 HNF4A RAD21 RNU1-24P FGF14 GC13M101537 ITGBL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF14 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGF14 Gene

Chromosome:
13
Start:
101,710,804 bp from pter
End:
102,402,457 bp from pter
Size:
691,654 bases
Orientation:
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:
    Q92915-FGF14_HUMAN
    Recommended name:
    Fibroblast growth factor 14
    Protein Accession:
    Q92915
    Secondary Accessions:
    • Q86YN7
    • Q96QX6

    Protein attributes for FGF14 Gene

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

    Alternative splice isoforms for FGF14 Gene

    UniProtKB/Swiss-Prot:

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

Suggested Antigen Peptide Sequences for FGF14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92915

UniProtKB/Swiss-Prot:

FGF14_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF14: view

No data available for Gene Families for FGF14 Gene

Function for FGF14 Gene

Molecular function for FGF14 Gene

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

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 --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

COMPARTMENTS
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 3
nucleus 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FGF14 Gene

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

Pathways & Interactions for FGF14 Gene

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

Gene Ontology (GO) - Biological Process for FGF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8790420
GO:0007267 cell-cell signaling TAS 8790420
GO:0007399 nervous system development IEA,TAS --
GO:0048167 regulation of synaptic plasticity IEA --
GO:0060078 regulation of postsynaptic membrane potential IEA --
genes like me logo Genes that share ontologies with FGF14: view

No data available for SIGNOR curated interactions for FGF14 Gene

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

Unigene Clusters for FGF14 Gene

Fibroblast growth factor 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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: - - -
SP3:
SP4: -
SP5:

Relevant External Links for FGF14 Gene

GeneLoc Exon Structure for
FGF14
ECgene alternative splicing isoforms for
FGF14

Expression for FGF14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for FGF14 Gene



Protein tissue co-expression partners for FGF14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FGF14 Gene:

FGF14

SOURCE GeneReport for Unigene cluster for FGF14 Gene:

Hs.508616

mRNA Expression by UniProt/SwissProt for FGF14 Gene:

Q92915-FGF14_HUMAN
Tissue specificity: Nervous system.

Evidence on tissue expression from TISSUES for FGF14 Gene

  • Nervous system(4.6)
  • Eye(4.1)
  • Lung(2.4)

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

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

Primer Products

Orthologs for FGF14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF14 34 35
  • 99.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGF14 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgf14 34 16 35
  • 95.01 (n)
rat
(Rattus norvegicus)
Mammalia Fgf14 34
  • 94.33 (n)
dog
(Canis familiaris)
Mammalia FGF14 34 35
  • 92.98 (n)
oppossum
(Monodelphis domestica)
Mammalia FGF14 35
  • 78 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 68 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FGF14 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGF14 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf14 34
  • 85.96 (n)
Str.13744 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32735 34
zebrafish
(Danio rerio)
Actinopterygii fgf14 34 35
  • 80.85 (n)
Species where no ortholog for FGF14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

ENSEMBL:
Gene Tree for FGF14 (if available)
TreeFam:
Gene Tree for FGF14 (if available)

Paralogs for FGF14 Gene

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 from dbSNP and Humsavar for FGF14 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs104894393 Pathogenic, Spinocerebellar ataxia 27 (SCA27) [MIM:609307] 101,726,785(-) CAAGT(C/T)TAAAG reference, missense
rs587776685 Pathogenic 101,726,732(+) TTGTC(-/T)GTACA reference, frameshift-variant
rs141304687 Likely benign 101,916,522(+) GTTGC(A/C)GTTGC intron-variant, reference, missense
rs141424596 Likely benign 101,721,165(+) CTTCT(-/GAG)AAGAA downstream-variant-500B, utr-variant-3-prime
rs141506954 Likely benign 101,721,384(+) AAAAT(-/AA)AAAAG utr-variant-3-prime

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)

Relevant External Links for FGF14 Gene

Human Gene Mutation Database (HGMD)
FGF14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF14

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

Disorders for FGF14 Gene

MalaCards: The human disease database

(7) MalaCards diseases for FGF14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 27
  • spinocerebellar ataxia type 27
spinocerebellar ataxia type27
  • sca 27
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
ladd syndrome
  • lacrimoauriculodentodigital syndrome
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search FGF14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF14_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for FGF14

Genetic Association Database (GAD)
FGF14
Human Genome Epidemiology (HuGE) Navigator
FGF14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF14
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. … Zuehlke C. (Eur. J. Hum. Genet. 2005) 3 4 22 46 64
  2. Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14. (PMID: 17236779) Wozniak D.F. … Ornitz D.M. (Neurobiol. Dis. 2007) 2 3 22 64
  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. (Arch. Neurol. 2004) 3 22 46 64
  4. Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. (PMID: 8790420) Smallwood P.M. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 64
  5. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. (PMID: 26900580) Wagnon J.L. … Meisler M.H. (Ann. Clin. Transl. Neurol. 2016) 3 4 64

Products for FGF14 Gene

Sources for FGF14 Gene

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