FGF14 fibroblast growth factor 14 [Homo sapiens] - Gene

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Summary

Official Symbol: FGF14provided by HGNC
Official Full Name: fibroblast growth factor 14provided by HGNC
Primary source: HGNC:3671
Locus tag: RP11-397O8.6
See related: Ensembl:ENSG00000102466; HPRD:03305; MIM:601515; Vega:OTTHUMG00000017303
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FHF4; FHF-4; SCA27; FGF-14; MGC119129
Summary: The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 13q34

Sequence :: Chromosome: 13; NC_000013.10 (102373205..103054124, complement)

See FGF14 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
FGF14 mutations in Ataxia and childhood onset postural tremor.
Title: Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor.
a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34.
Title: Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS.
Title: Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels.
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
Title: A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
Frameshift mutation and polymorphisms in the fibroblast growth factor 14 gene is associated with ataxias
Title: Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
A G->A variant was found in a single spinocerebellar ataxia patient in the 3' untranslated region, 31 bp to the STOP codon; it did not affect the polyadenylation site. FGF14 mutations are not a major cause of SCA in Caucasians.
Title: Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Function	Evidence Code	Pubs
NOT fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
growth factor activity	IEA Inferred from Electronic Annotation more info
heparin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
JNK cascade	IPI Inferred from Physical Interaction more info	PubMed
cell death	IEA Inferred from Electronic Annotation more info
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
NOT fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
nervous system development	TAS Traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: fibroblast growth factor 14

Names: fibroblast growth factor 14; bA397O8.2; fibroblast growth factor homologous factor 4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008317.1 RefSeqGene

Range

5001..685920

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004115.3 → NP_004106.1 fibroblast growth factor 14 isoform 1A

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (1A).

Source sequence(s)

AL160153, U66200

Consensus CDS

CCDS9501.1

UniProtKB/Swiss-Prot

Q92915

Related

ENSP00000365313, OTTHUMP00000018661, ENST00000376143, OTTHUMT00000045679

Conserved Domains (1) summary

cd00058
Location:74 – 200
Blast Score: 386

FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
NM_175929.2 → NP_787125.1 fibroblast growth factor 14 isoform 1B

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' sequence including the 5' UTR and coding region, as compared to variant 1. It encodes isoform 1B, which has a different and longer N-terminus than isoform 1A.

Source sequence(s)

AL160153, AY188178

Consensus CDS

CCDS9500.1

UniProtKB/Swiss-Prot

Q92915

Related

ENSP00000365301, OTTHUMP00000018662, ENST00000376131, OTTHUMT00000045680

Conserved Domains (1) summary

cd00058
Location:79 – 205
Blast Score: 390

FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

102373205..103054124, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

82966637..83646527, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL139802.16 (100..40450)	None
genomic	AL159155.8	None
genomic	AL160153.11	CAC42528.2
		CAH73403.1
genomic	AL160153.11	CAC42528.2
		CAH73403.1
genomic	AL161899.21 (100..159980)	None
genomic	AL356263.12	CAI16837.1
genomic	AL356266.9 (100..105246)	None
genomic	AL512629.7	CAI15768.1
		CAI15769.1
genomic	AL591909.5	CAI15872.1
		CAI15873.1
genomic	CH471085.1	EAX09054.1
		EAX09055.1
mRNA	AY188178.1	AAO31806.1
mRNA	BC100920.1	AAI00921.1
mRNA	BC100921.1	AAI00922.1
mRNA	BC100922.2	AAI00923.1
mRNA	U66200.1	AAB18916.1