FGF14 - fibroblast growth factor 14 Gene

Homo sapiens

Also known as FHF4; FHF-4; SCA27; FGF-14

Gene ID: 2259 | Gene type: protein coding

About FGF14

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:101,710,804-102,402,443 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 21 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.0), adrenal (RPKM 1.3) and 6 other tissues.

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]

FGF14 Products(22)

mRNA	Protein	Name
NM_001321931.1	NP_001308860.1	fibroblast growth factor 14 isoform 2
NM_001321932.1	NP_001308861.1	fibroblast growth factor 14 isoform 3
NM_001321933.1	NP_001308862.1	fibroblast growth factor 14 isoform 5
NM_001321934.1	NP_001308863.1	fibroblast growth factor 14 isoform 2
NM_001321935.1	NP_001308864.1	fibroblast growth factor 14 isoform 2
NM_001321936.1	NP_001308865.1	fibroblast growth factor 14 isoform 3
NM_001321937.2	NP_001308866.1	fibroblast growth factor 14 isoform 4
NM_001321938.2	NP_001308867.1	fibroblast growth factor 14 isoform 5
NM_001321939.2	NP_001308868.1	fibroblast growth factor 14 isoform 6
NM_001321940.1	NP_001308869.1	fibroblast growth factor 14 isoform 5
NM_001321941.2	NP_001308870.1	fibroblast growth factor 14 isoform 7
NM_001321942.1	NP_001308871.1	fibroblast growth factor 14 isoform 2
NM_001321943.1	NP_001308872.1	fibroblast growth factor 14 isoform 2
NM_001321944.1	NP_001308873.1	fibroblast growth factor 14 isoform 3
NM_001321945.2	NP_001308874.1	fibroblast growth factor 14 isoform 8
NM_001321946.2	NP_001308875.1	fibroblast growth factor 14 isoform 2
NM_001321947.2	NP_001308876.1	fibroblast growth factor 14 isoform 9
NM_001321948.2	NP_001308877.1	fibroblast growth factor 14 isoform 8
NM_001321949.1	NP_001308878.1	fibroblast growth factor 14 isoform 2
NM_001379342.1	NP_001366271.1	fibroblast growth factor 14 isoform 8
NM_004115.4	NP_004106.1	fibroblast growth factor 14 isoform 1A
NM_175929.3	NP_787125.1	fibroblast growth factor 14 isoform 1B

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables fibroblast growth factor receptor binding	IDA IDA: Inferred from direct assay	12815063	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	12815063	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22364545	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within JNK cascade	IPI IPI: Inferred from physical interaction	12815063	GOA
NOT acts upstream of or within fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	12815063	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGF14 Protein Structure

FGF

0
100
200
247 a.a.

Protein Preferred Names

Protein Names

fibroblast growth factor 14

fibroblast growth factor homologous factor 4

Recombinant FGF14 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75193	FGF-14 Protein, Human (isoform 1B)	Q92915-2/NP_787125.1 (K64-T252)	≥95%
HY-P700058AF	Animal-Free FGF-14 Protein, Human (His)	Q92915-1 (A2-T246)	≥95%

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 27

Spinocerebellar Ataxia Type 27	SCA27
Cerebellar Ataxia Autosomal Dominant Fgf14-Related	Vestibulocerebellar Disorder With Predominant Ocular Signs
Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related	Nystagmus 4, Congenital, Autosomal Dominant, Formerly
Nys4, Formerly	Ataxia, Spinocerebellar, Type 27

Uvula, Bifid

Bifid Uvula	Uvular Cleft
Uvula, Cleft	Bifidity Of The Uvula

Farsightedness

Hypermetropia	Hyperopia
Far-Sightedness	Farsighted
Long-Sighted	Long-Sightedness

Pectus Carinatum

Carinatum Deformity Of The Chest

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

Scoliosis

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17	SCA17
Huntington Disease-Like 4	Hdl4
Olivopontocerebellar Atrophy V	Cerebelloparenchymal Disorder Ii
Opca5	Cpd2
Sca 17	Ataxia, Spinocerebellar, Type 17

Dentatorubral-Pallidoluysian Atrophy

DRPLA	Naito-Oyanagi Disease
Haw River Syndrome	Myoclonic Epilepsy With Choreoathetosis
Nod	Ataxia, Chorea, Seizures, And Dementia
Dentatorubropallidoluysian Atrophy	Hrs
Naito Oyanagi Disease	Dentatorubral Pallidoluysian Atrophy
Dentatorubro-Pallidoluysian Atrophy	Myoclonic Epilepsies, Progressive
Atrophy, Pallidoluysian, Dentatorubral

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Episodic Ataxia, Type 8

Episodic Ataxia Type 8	EA8
Episodic Ataxia With Slurred Speech

Episodic Ataxia, Type 5

Episodic Ataxia Type 5	EA5
Episodic Ataxia 5	Ea-5
Ataxia, Episodic, Type 5

Spinocerebellar Ataxia, X-Linked 5

SCAX5	X-Linked Spinocerebellar Ataxia 5
X-Linked Non Progressive Cerebellar Ataxia

Spinocerebellar Ataxia Type 19/22

Sca19/22

Spinocerebellar Ataxia 19 And 22

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia	Oro-Facial Dyskinesia
Dyskinesias

Spinocerebellar Ataxia 40

Spinocerebellar Ataxia Type 40	SCA40
Ataxia, Spinocerebellar, Type 40

X-Linked Cerebellar Ataxia

Cerebellar Ataxia Type 43

Sca43

Episodic Ataxia, Type 1

Episodic Ataxia Type 1	Episodic Ataxia/Myokymia Syndrome
EA1	Episodic Ataxia With Myokymia
Eam	Ataxia, Episodic, With Myokymia
Aem	Paroxysmal Ataxia With Neuromyotonia, Hereditary
Myokymia With Periodic Ataxia	Episodic Ataxia 1
Aemk	Ea-1
Paroxysmal Ataxia With Neuromyotonia	Myokymia Isolated 1
MK1	Ataxia, Episodic, Type 1
Continuous Muscle Fiber Activity, Hereditary	Isaacs Syndrome

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Spinocerebellar Ataxia, X-Linked 1

X-Linked Progressive Cerebellar Ataxia	SCAX1
Opcax	X-Linked Spinocerebellar Ataxia 1
Olivopontocerebellar Atrophy, X-Linked	Opca, X-Linked
Olivopontocerebellar Atrophy X-Linked	Opca X-Linked
Ataxia, Spinocerebellar, X-Linked Type 1

Episodic Ataxia, Type 6

Episodic Ataxia Type 6	EA6
Episodic Ataxia 6	Ea-6
Ataxia, Episodic, Type 6

Spinocerebellar Ataxia 13

Spinocerebellar Ataxia Type 13	SCA13
Autosomal Dominant Cerebellar Ataxia With Intellectual Disability	Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability
Spinocerebellar Ataxia-13	Ataxia, Spinocerebellar, Type 13

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Spastic Ataxia

Spax	Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04891	FGF14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FGF14	RGD	RGD:620165
Macaca mulatta	FGF14	VGNC	VGNC:72645
Felis catus	FGF14	VGNC	VGNC:102208
Bos taurus	FGF14	VGNC	VGNC:106743
Mus musculus	FGF14	MGD	MGI:109189
Canis familiaris	FGF14	VGNC	VGNC:54302
Others	FGF14	NCBI