Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2259
Gene name	Fibroblast growth factor 14
Gene symbol	FGF14
Synonyms (NCBI Gene)	FGF-14FHF-4FHF4NYS4SCA27SCA27ASCA27B
Chromosome	13
Chromosome location	13q33.1
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, cel

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894393	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587776685	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555370787	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1566823361	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all (57)

miRTarBase ID	miRNA	Experiments	Reference
MIRT608846	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT608845	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT608843	hsa-miR-4455	HITS-CLIP	21572407
MIRT608842	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT608846	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT608845	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684225	hsa-miR-8068	HITS-CLIP	23313552
MIRT684224	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT684223	hsa-miR-147a	HITS-CLIP	23313552
MIRT684222	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT608843	hsa-miR-4455	HITS-CLIP	23313552
MIRT608842	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT608846	hsa-miR-511-3p	HITS-CLIP	24906430
MIRT608845	hsa-miR-223-5p	HITS-CLIP	24906430
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608843	hsa-miR-4455	HITS-CLIP	24906430
MIRT608842	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT608845	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT608843	hsa-miR-4455	HITS-CLIP	27418678
MIRT608846	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT608842	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608846	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT608845	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT608843	hsa-miR-4455	HITS-CLIP	21572407
MIRT608842	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT608846	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT608845	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT608844	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT684225	hsa-miR-8068	HITS-CLIP	23313552
MIRT684224	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT684223	hsa-miR-147a	HITS-CLIP	23313552
MIRT684222	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT608843	hsa-miR-4455	HITS-CLIP	23313552
MIRT608842	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT995579	hsa-miR-3185	CLIP-seq
MIRT995580	hsa-miR-3607-3p	CLIP-seq
MIRT995581	hsa-miR-3934	CLIP-seq
MIRT995582	hsa-miR-4292	CLIP-seq
MIRT995583	hsa-miR-4308	CLIP-seq
MIRT995584	hsa-miR-4703-3p	CLIP-seq
MIRT995585	hsa-miR-4711-3p	CLIP-seq
MIRT995586	hsa-miR-4747-5p	CLIP-seq
MIRT995587	hsa-miR-4778-3p	CLIP-seq
MIRT995588	hsa-miR-495	CLIP-seq
MIRT995589	hsa-miR-511	CLIP-seq
MIRT995590	hsa-miR-513a-3p	CLIP-seq
MIRT995591	hsa-miR-539	CLIP-seq
MIRT995592	hsa-miR-548c-3p	CLIP-seq
MIRT995593	hsa-miR-578	CLIP-seq
MIRT995594	hsa-miR-670	CLIP-seq
MIRT1995227	hsa-miR-3591-3p	CLIP-seq
MIRT1995228	hsa-miR-4691-3p	CLIP-seq
MIRT1995229	hsa-miR-616	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005104	Function	Fibroblast growth factor receptor binding	IDA	12815063
GO:0005515	Function	Protein binding	IPI	22364545, 25659151, 26900580, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	TAS	8790420
GO:0007254	Process	JNK cascade	IPI	12815063
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	TAS	8790420
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8790420
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8790420
GO:0008201	Function	Heparin binding	IDA	12815063
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	12815063
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0022008	Process	Neurogenesis	IBA

MIM	HGNC	e!Ensembl
601515	3671	ENSG00000102466

Q92915

Protein name

Fibroblast growth factor 14 (FGF-14) (Fibroblast growth factor homologous factor 4) (FHF-4)

Protein function

Probably involved in nervous system development and function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	71 → 197	Fibroblast growth factor	Domain

Tissue specificity

TISSUE SPECIFICITY: Nervous system.

Sequence

MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRR
LRRQDPQLKGIVTRLYCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVK
TGLYIAMNGEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQ
AMKGNRVKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKP
VNKSKTT

Sequence length

247

Interactions

View interactions

	KEGG		Reactome
	Spinocerebellar ataxia		Phase 0 - rapid depolarisation

104

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Pathogenic	rs2047659273	RCV002508353
FGF14-related disorder	Likely pathogenic	rs2501856727	RCV003408225
Spinocerebellar ataxia 27A	Pathogenic; Likely pathogenic	rs865878627, rs2501931660, rs104894393, rs587776685, rs2548901390, rs2501931899, rs1555370787	RCV002291320 RCV002291254 RCV002472354 RCV002472355 RCV003984960 RCV003988712 RCV002472357
Spinocerebellar ataxia 27B, late-onset	Pathogenic	rs2047659273	RCV003128119
Spinocerebellar ataxia type 27	Likely pathogenic; Pathogenic	rs2501856727, rs1555370787	RCV002308564 RCV000580889

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant cerebellar ataxia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs34628929, rs371464074, rs886049937, rs559888067, rs747506157, rs10626847, rs577253536, rs546246953, rs141424596, rs141506954, rs768342824, rs144061152	RCV000294304 RCV000288488 RCV000370072 RCV000335993 RCV000310112 RCV000304271 RCV000315846 RCV000264126 RCV000346848 RCV000386280 RCV000349896 RCV000390717 RCV000385172 RCV000260102

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	16166153, 36207621, 36493768, 37322040, 37460234, 37916889, 38150853, 38487929, 40156335, 40191983
Ataxia Sensory Autosomal Dominant	Associate	40156335
Autistic Disorder	Associate	32717741
Autoimmune Diseases	Associate	37460234
Autoimmune Diseases of the Nervous System	Associate	37460234
Autonomic Nervous System Diseases	Associate	36493768
Brain Diseases	Associate	37460234
Brain Stem Neoplasms	Associate	37460234
Breast Neoplasms	Associate	36216883
Carcinoma	Associate	31467233
Carcinoma Hepatocellular	Associate	34783177
Carcinoma Pancreatic Ductal	Associate	34061869
Cerebellar Ataxia	Associate	36493768, 36516086, 37916889, 38150853, 38487929, 40556471, 40579842
Cognition Disorders	Associate	16166153
Colorectal Neoplasms	Inhibit	32654025
COVID 19	Associate	34204705
Dizziness	Associate	37460234
Dysarthria	Associate	37460234, 40191983
Episodic Ataxia	Associate	32162847, 36207621
Episodic Ataxia Type 2	Associate	32162847
Fever	Associate	32162847
Gait Ataxia	Associate	40191983
Glycogen Storage Disease Type II	Associate	37322040, 37916889, 40579842
Growth Disorders	Associate	26483173
Infertility Male	Associate	34204705
Inflammation	Associate	37460234
Intestinal Diseases	Associate	17071588
Job Syndrome	Associate	36493768
Late Onset Disorders	Associate	40191983
Learning Disabilities	Associate	32162847
Lung Neoplasms	Associate	38040694
Microphthalmia Syndromic 10	Associate	38487929
Multiple Pterygium Syndrome Autosomal Dominant	Associate	37460234
Multiple System Atrophy	Associate	37916889
Neoplasm Metastasis	Associate	36216883
Nervous System Diseases	Associate	38487929, 40579842
Neurodegenerative Diseases	Associate	37460234
Neurologic Manifestations	Associate	37460234
Nystagmus Pathologic	Associate	32157568, 32162847, 36207621, 38381176, 40191983, 40556471
Osteosarcoma	Inhibit	32862604
Pancreatic Neoplasms	Associate	34061869
Parkinson Disease Secondary	Associate	37916889
Pituitary Neoplasms	Associate	36750863
Pulmonary Disease Chronic Obstructive	Associate	37466093
Spinocerebellar ataxia 27	Associate	36207621, 37460234
Spinocerebellar Ataxias	Associate	37322040, 37907039, 39392764, 40191983, 40556471, 40579842
Spinocerebellar Degenerations	Associate	39227614, 40556471
Tremor	Associate	32162847, 37460234, 38487929, 40156335
Vestibular Diseases	Associate	36493768
Vocal Cord Paralysis	Associate	37916889

FGF14 (fibroblast growth factor 14)