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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 MAPK signaling pathway and Glioma. GO annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF22.

UniProtKB/Swiss-Prot for FGF14 Gene

  • Probably involved in nervous system development and function.

Gene Wiki entry for FGF14 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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:
    No Data Available

    Alternative splice isoforms for FGF14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGF14 Gene

Proteomics data for FGF14 Gene at MOPED

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for FGF14 Gene COMPARTMENTS Subcellular localization image for FGF14 gene
Compartment Confidence
cytosol 4
extracellular 3
nucleus 3
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for FGF14 Gene

Pathways & Interactions for FGF14 Gene

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

Interacting Proteins for FGF14 Gene

Gene Ontology (GO) - Biological Process for FGF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling TAS 8790420
GO:0007399 nervous system development IEA --
GO:0008543 NOT fibroblast growth factor receptor signaling pathway IDA 12815063
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:

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 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



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.
genes like me logo Genes that share expression patterns with FGF14: view

Protein tissue co-expression partners for FGF14 Gene

- Elite partner

Primer Products

In Situ Assay 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
dog
(Canis familiaris)
Mammalia FGF14 35
  • 92.98 (n)
  • 91.5 (a)
FGF14 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgf14 35
  • 95.01 (n)
  • 98.79 (a)
Fgf14 16
Fgf14 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGF14 35
  • 99.73 (n)
  • 100 (a)
FGF14 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgf14 35
  • 94.33 (n)
  • 98.79 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 68 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia FGF14 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGF14 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF14 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGF14 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf14 35
  • 85.96 (n)
  • 94.74 (a)
Str.13744 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32735 35
zebrafish
(Danio rerio)
Actinopterygii fgf14 35
  • 80.85 (n)
  • 91.32 (a)
fgf14 36
  • 72 (a)
OneToOne
Species with no ortholog for FGF14:
  • 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
rs141304687 - 101,916,522(+) GTTGC(A/C)GTTGC intron-variant, reference, missense
VAR_022736 Spinocerebellar ataxia 27 (SCA27)
rs3983 -- 102,135,312(+) CTCTT(C/T)AAAGC intron-variant
rs473414 -- 102,174,962(+) acgaa(C/T)aagtg intron-variant
rs474199 -- 102,175,017(+) aaatg(C/T)ccata intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832702 CNV Gain 17160897
esv270420 CNV Insertion 20981092
esv2662978 CNV Deletion 23128226
esv2665206 CNV Deletion 23128226
esv2098077 CNV Deletion 18987734
esv2747899 CNV Deletion 23290073
nsv826772 CNV Gain 20364138
esv259790 OTHER Complex 20981092
esv2451556 CNV Deletion 19546169
esv2747900 CNV Deletion 23290073
nsv832704 CNV Gain 17160897
nsv1152 CNV Insertion 18451855
nsv832705 CNV Gain 17160897
nsv1153 CNV Loss 18451855
esv34672 CNV Loss 17911159
esv2662927 CNV Deletion 23128226
nsv456098 CNV Gain 19166990
dgv586e1 CNV Complex 17122850
esv9192 CNV Gain 19470904
esv2747901 CNV Deletion 23290073
nsv832706 CNV Gain 17160897
esv1010266 CNV Deletion 20482838
esv2546035 CNV Deletion 19546169
esv3231 CNV Deletion 18987735
esv2747902 CNV Deletion 23290073
esv1625125 CNV Deletion 17803354
nsv1155 CNV Insertion 18451855
esv2747903 CNV Deletion 23290073
esv2005005 CNV Deletion 18987734
esv3297 CNV Deletion 18987735
nsv63965 CNV Loss 16902084
esv2747904 CNV Deletion 23290073
esv2747905 CNV Deletion 23290073
nsv507730 CNV Insertion 20534489
esv2747906 CNV Deletion 23290073
esv2659511 CNV Deletion 23128226
esv2747908 CNV Deletion 23290073
nsv524907 CNV Loss 19592680
nsv819119 CNV Gain 19587683

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

HapMap Linkage Disequilibrium report
FGF14
Human Gene Mutation Database (HGMD)
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
  • spinocerebellar ataxia 27
autosomal dominant cerebellar ataxia
  • cardiac arrest
ladd syndrome
  • lacrimoauriculodentodigital syndrome
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
- 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 23 48 67
  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 23
  3. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. (PMID: 16211615) Brusse E. … van Swieten J.C. (Mov. Disord. 2006) 3 23
  4. 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 23
  5. 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

Products for FGF14 Gene

Sources for FGF14 Gene

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