Identity
HGNC
LOCATION
13q33.1
LOCUSID
ALIAS
FGF-14,FHF-4,FHF4,SCA27
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2259
MIM: 601515
HGNC: 3671
Ensembl: ENSG00000102466
Variants:
dbSNP: 2259
ClinVar: 2259
TCGA: ENSG00000102466
COSMIC: FGF14
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102466 | ENST00000376131 | Q92915 |
| ENSG00000102466 | ENST00000376143 | Q92915 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37399286 | 2024 | Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. | 8 |
| 37916889 | 2024 | Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. | 2 |
| 38150853 | 2024 | Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. | 3 |
| 38221848 | 2024 | The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. | 0 |
| 38487929 | 2024 | RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia. | 0 |
| 38507876 | 2024 | GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. | 2 |
| 38513302 | 2024 | The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. | 2 |
| 37399286 | 2024 | Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. | 8 |
| 37916889 | 2024 | Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. | 2 |
| 38150853 | 2024 | Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. | 3 |
| 38221848 | 2024 | The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. | 0 |
| 38487929 | 2024 | RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia. | 0 |
| 38507876 | 2024 | GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. | 2 |
| 38513302 | 2024 | The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. | 2 |
| 36493768 | 2023 | An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. | 30 |
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)
