Human Gene FGF14 (ENST00000376143.5_10) from GENCODE V47lift37
  Description: fibroblast growth factor 14, transcript variant 1 (from RefSeq NM_004115.4)
Gencode Transcript: ENST00000376143.5_10
Gencode Gene: ENSG00000102466.17_13
Transcript (Including UTRs)
   Position: hg19 chr13:102,363,154-102,569,295 Size: 206,142 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr13:102,375,181-102,568,995 Size: 193,815 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:102,363,154-102,569,295)mRNA (may differ from genome)Protein (247 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGF14_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 14; Short=FGF-14; AltName: Full=Fibroblast growth factor homologous factor 4; Short=FHF-4;
FUNCTION: Probably involved in nervous system development and function.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Nervous system.
DISEASE: Defects in FGF14 are the cause of spinocerebellar ataxia type 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.
SIMILARITY: Belongs to the heparin-binding growth factors family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGF14";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FGF14
Diseases sorted by gene-association score: spinocerebellar ataxia 27* (1597), spinocerebellar ataxia type27* (100), autosomal dominant cerebellar ataxia (20), spinocerebellar ataxia 28 (8), ladd syndrome (8), neurodegeneration with brain iron accumulation 3 (6), ataxia (6), cerebellar ataxia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.48 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 24.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -146.50300-0.488 Picture PostScript Text
3' UTR -2899.6712027-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008996 - Cytokine_IL1-like
IPR002209 - GF_heparin-bd
IPR002348 - IL1_HBGF

Pfam Domains:
PF00167 - Fibroblast growth factor

SCOP Domains:
50353 - Cytokine
50370 - Ricin B-like lectins
50405 - Actin-crosslinking proteins

ModBase Predicted Comparative 3D Structure on Q92915
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0005104 fibroblast growth factor receptor binding

Biological Process:
GO:0007165 signal transduction
GO:0007254 JNK cascade
GO:0007267 cell-cell signaling
GO:0007399 nervous system development
GO:0010469 regulation of receptor activity
GO:0048167 regulation of synaptic plasticity
GO:0060078 regulation of postsynaptic membrane potential
GO:1901843 positive regulation of high voltage-gated calcium channel activity
GO:1903421 regulation of synaptic vesicle recycling
GO:0008543 fibroblast growth factor receptor signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005622 intracellular
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AY188178 - Homo sapiens fibroblast growth factor 14 isoform 1B mRNA, complete cds.
BC100920 - Homo sapiens fibroblast growth factor 14, mRNA (cDNA clone MGC:119127 IMAGE:40003901), complete cds.
BC100921 - Homo sapiens fibroblast growth factor 14, mRNA (cDNA clone MGC:119128 IMAGE:40003902), complete cds.
BC100922 - Homo sapiens fibroblast growth factor 14, mRNA (cDNA clone MGC:119129 IMAGE:40003903), complete cds.
KJ891166 - Synthetic construct Homo sapiens clone ccsbBroadEn_00560 FGF14 gene, encodes complete protein.
KR711486 - Synthetic construct Homo sapiens clone CCSBHm_00024352 FGF14 (FGF14) mRNA, encodes complete protein.
AB590819 - Synthetic construct DNA, clone: pFN21AE2244, Homo sapiens FGF14 gene for fibroblast growth factor 14, without stop codon, in Flexi system.
U66200 - Human fibroblast growth factor homologous factor 4 (FHF-4) mRNA, complete cds.
AK095102 - Homo sapiens cDNA FLJ37783 fis, clone BRHIP2028187.
AF339819 - Homo sapiens clone IMAGE:38177, mRNA sequence.
JD027602 - Sequence 8626 from Patent EP1572962.
JD025038 - Sequence 6062 from Patent EP1572962.
JD273199 - Sequence 254223 from Patent EP1572962.
JD346121 - Sequence 327145 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000376143.1, ENST00000376143.2, ENST00000376143.3, ENST00000376143.4, FGF14_HUMAN, FHF4, NM_004115, Q86YN7, Q92915, Q96QX6, uc318mtk.1, uc318mtk.2
UCSC ID: ENST00000376143.5_10
RefSeq Accession: NM_004115.4
Protein: Q92915 (aka FGF14_HUMAN or FGFE_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGF14:
ataxias (Hereditary Ataxia Overview)
fgf14-ataxia (GAA-FGF14-Related Ataxia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.