FGF14 (fibroblast growth factor 14)

2003-02-01  

Identity

HGNC
LOCATION
13q33.1
LOCUSID
ALIAS
FGF-14,FHF-4,FHF4,SCA27
FUSION GENES

Other Information

Locus ID:

NCBI: 2259
MIM: 601515
HGNC: 3671
Ensembl: ENSG00000102466

Variants:

dbSNP: 2259
ClinVar: 2259
TCGA: ENSG00000102466
COSMIC: FGF14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102466ENST00000376131Q92915
ENSG00000102466ENST00000376143Q92915

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Regulation of actin cytoskeletonKEGGko04810
MelanomaKEGGko05218
MAPK signaling pathwayKEGGhsa04010
Regulation of actin cytoskeletonKEGGhsa04810
Pathways in cancerKEGGhsa05200
MelanomaKEGGhsa05218
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Breast cancerKEGGko05224
Breast cancerKEGGhsa05224

References

Pubmed IDYearTitleCitations
161661532005Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels.85
124890432003A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].77
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
236408852013The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3).42
162116152006Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.41
154703642005Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.31
154703642005Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.31
256591512015Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation.21
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
242522562014A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.17

Citation

Dessen P

FGF14 (fibroblast growth factor 14)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40554/fgf14-(fibroblast-growth-factor-14)