FGF14 - fibroblast growth factor 14 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2259

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	References	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	References	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%, as determined by reducing SDS-PAGE.
HY-P700058AF	Animal-Free FGF-14 Protein, Human (His)	Q92915-1 (A2-T246)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04891	FGF14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174707	Human FGF14 mRNA		/	Unkown
HY-RS18818	Fgf14 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25308	Fgf14 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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