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FLASH GENE

Symbol

FGF14

contributors: mct - updated : 27-08-2015

HGNC name	fibroblast growth factor 14
HGNC id	3671

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus is required for targeting and functional regulation of Nav channels, suggesting an important function for FGF14 alternative splicing in regulating neuronal excitability
	clusters of basic residues potentially acting as nuclear localization signals (NLS)

HOMOLOGY

interspecies

homolog to murine Fgf14

intraspecies

homolog to

Homologene

FAMILY	heparin-binding growth factors family
	FGF11 subfamily
	intracellular FGF (iFGF) sub-family

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus

basic FUNCTION	may be involved in neuronal signaling, axonal trafficking, and synaptosomal function
	FGF11, FGF12, FGF13, FGF14 are intracellular proteins that bind and modulate voltage-gated sodium channels
	controls biophysical properties and subcellular distribution of neuronal voltage-gated Na(+) (Nav) channels through direct binding to the channel C terminus
	role as a critical component of the Nav channel macromolecular complex, providing evidence for a novel GSK3A-dependent signaling pathway that might control excitability through specific protein/protein interactions
	FGF11, FGF12, FGF13, FGF14 not only are potent modulators of voltage-gated Na+ channels but also affect Ca2+ channels and their function
	concerted actions of FGF13 and FGF14 regulate the polarized localization of voltage-gated sodium channels (VGSCs) that supports efficient action potential initiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

FGF14 binds directly to SCN8A C-tail, regulating channel gating and expression, properties that are required for intrinsic excitability in neurons

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCABG

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function impairs spontaneous and repetitive firing in Purkinje neurons by altering the expression of SCN8A channels

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

inactivation of Fgf14 in mice results in markedly reduced Purkinje neuron excitability