Entity Details

Primary name FGF12
Entity type gene
Source Source Link

Details

PrimaryID2257
RefseqGeneNG_051966
SymbolFGF12
Namefibroblast growth factor 12
Chromosome3
Location3q28-q29
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-17
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsFGF12_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003254 regulation of membrane depolarization
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0007165 signal transduction
GO:0007254 JNK cascade
GO:0007267 cell-cell signaling
GO:0007268 chemical synaptic transmission
GO:0007399 nervous system development
GO:0007507 heart development
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0008344 adult locomotory behavior
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010765 positive regulation of sodium ion transport
GO:0017080 sodium channel regulator activity
GO:0044325 transmembrane transporter binding
GO:0045202 synapse
GO:0050905 neuromuscular process
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0098908 regulation of neuronal action potential
GO:1902305 regulation of sodium ion transmembrane transport
GO:1905150 regulation of voltage-gated sodium channel activity
GO:2000649 regulation of sodium ion transmembrane transporter activity
GO:2001258 negative regulation of cation channel activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617166 OMIMDevelopmental and epileptic encephalopathy 47 (DEE47)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. The disease is caused by variants affecting the gene represented in this entry.