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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

Corresponding disease	SCABG spinocerebellar ataxia, with neurodegeneration of the cerebellum and the basal ganglia
Location	13q33.1      Physical location : 102.373.204 - 103.054.124
Synonym symbol(s)	FHF4, FGFE, FHF4, FHF-4, SCA27

DNA

TYPE	functioning gene
STRUCTURE	680.92 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004115 5 splicing 2720 NP_004106 - 247 in neurons, both FGF14-1a and FGF14-1b localized at the axonal initial segment 2009 19465131 FGF14-1a N-terminal alternatively spliced FGF14 variant NM_175929 5 - 2831 NP_787125 - 252 in neurons, both FGF14-1a and FGF14-1b localized at the axonal initial segment 2009 19465131 FGF14-1b N-terminal alternatively spliced FGF14 variant attenuates both SCN2A and SCN8A current densities

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
	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
	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