Property Summary

NCBI Gene PubMed Count 28
Grant Count 30
R01 Count 25
Funding $3,230,216.51
PubMed Score 39.05
PubTator Score 27.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Gene RIF (14)

PMID Text
25659151 identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex.
25566820 study reports on a two-generation French Canadian family affected with autosomal dominant episodic ataxia caused by a frameshift mutation leading to a premature stop codon in FGF14
24252256 family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis
23640885 inhibition of GSK3 reduces the assembly of the FGF14.Nav channel complex, modifies FGF14-dependent regulation of Na(+) currents, and induces dissociation and subcellular redistribution of the native FGF14.Nav channel complex in hippocampal neurons.
22579694 THe present study demonstrates that Spinocerebellar ataxia type 27 (SCA27) caused by FGF14 mutation is rare in Chinese SCA patients.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17221845 FGF14 mutations in Ataxia and childhood onset postural tremor.
16211615 a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34.
16166153 these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS.
15470364 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQDPQLKG      1 - 70
IVTRLYCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMNGEGYLYPSELFT     71 - 140
PECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNRVKKTKPAAHFLPKPLEVAMYREPS    141 - 210
LHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKSKTT                                     211 - 247
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Text Mined References (29)

PMID Year Title
26900580 2016 Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
25659151 2015 Identifying a kinase network regulating FGF14:Nav1.6 complex assembly using split-luciferase complementation.
25566820 2015 A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
24252256 2014 A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
23640885 2013 The fibroblast growth factor 14·voltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3).
23551011 2013 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
23166209 2012 Impact of ancestry and common genetic variants on QT interval in African Americans.
22579694 2012 Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
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