FGF14 (fibroblast growth factor 14)

2003-02-01  

Identity

HGNC
FGF14
LOCATION
13q33.1
LOCUSID
2259
ALIAS
FGF-14,FHF-4,FHF4,SCA27
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
373992862024Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.8
379168892024Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.2
381508532024Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.3
382218482024The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.0
384879292024RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.0
385078762024GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.2
385133022024The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.2
373992862024Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.8
379168892024Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.2
381508532024Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.3
382218482024The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.0
384879292024RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.0
385078762024GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.2
385133022024The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.2
364937682023An 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)