FGF12 (fibroblast growth factor 12)

2003-02-01  

Identity

HGNC
LOCATION
3q28
LOCUSID
ALIAS
DEE47,EIEE47,FGF12B,FHF1
FUSION GENES

Other Information

Locus ID:

NCBI: 2257
MIM: 601513
HGNC: 3668
Ensembl: ENSG00000114279

Variants:

dbSNP: 2257
ClinVar: 2257
TCGA: ENSG00000114279
COSMIC: FGF12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114279ENST00000418610C9JIN3
ENSG00000114279ENST00000430714C9JEN8
ENSG00000114279ENST00000445105P61328
ENSG00000114279ENST00000448795C9JUK8
ENSG00000114279ENST00000450716P61328
ENSG00000114279ENST00000454309P61328

Expression (GTEx)

0
5
10
15
20
25
30
35

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
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
128150632003Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs.90
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
124018122003Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B.57
240961712013FGF12 is a candidate Brugada syndrome locus.37
200832282010Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India.27
263925622015SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.23
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
271647072016Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.12
215187652011Fibroblast growth factor-12 (FGF12) translocation into intestinal epithelial cells is dependent on a novel cell-penetrating peptide domain: involvement of internalization in the in vivo role of exogenous FGF12.11

Citation

Dessen P

FGF12 (fibroblast growth factor 12)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40552/fgf12