Identity
HGNC
LOCATION
3q28
LOCUSID
ALIAS
DEE47,EIEE47,FGF12B,FHF1
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: 2257
MIM: 601513
HGNC: 3668
Ensembl: ENSG00000114279
Variants:
dbSNP: 2257
ClinVar: 2257
TCGA: ENSG00000114279
COSMIC: FGF12
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36029553 | 2022 | Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. | 6 |
| 36029553 | 2022 | Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. | 6 |
| 33349918 | 2021 | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | 11 |
| 33629303 | 2021 | HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway. | 1 |
| 33639159 | 2021 | Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors. | 5 |
| 33982289 | 2021 | Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation. | 8 |
| 33349918 | 2021 | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | 11 |
| 33629303 | 2021 | HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway. | 1 |
| 33639159 | 2021 | Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors. | 5 |
| 33982289 | 2021 | Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation. | 8 |
| 32357892 | 2020 | FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner. | 17 |
| 32645220 | 2020 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | 6 |
| 32950810 | 2020 | A functional variant rs1464938 in the promoter of fibroblast growth factor 12 is associated with an increased risk of bladder transitional cell carcinoma. | 1 |
| 32357892 | 2020 | FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner. | 17 |
| 32645220 | 2020 | Defining the phenotype of FHF1 developmental and epileptic encephalopathy. | 6 |
Citation
Dessen P
FGF12 (fibroblast growth factor 12)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40552/fgf12-(fibroblast-growth-factor-12)
