1. Gene
  2. FGF14 - fibroblast growth factor 14 Gene

FGF14 - fibroblast growth factor 14 Gene

中文名称:成纤维细胞生长因子 14

种属: Homo sapiens

同用名: FHF4; FHF-4; SCA27; FGF-14

基因 ID: 2259 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是成纤维细胞生长因子 (FGF) 家族的成员。 FGF 家族成员具有广泛的促有丝分裂和细胞存活活性,并参与多种生物过程,包括胚胎发育、细胞生长、形态发生、组织修复、肿瘤生长和侵袭。该基因的突变与常染色体显性脑性共济失调有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables fibroblast growth factor receptor binding IDA
IDA: 通过直接分析推断
12815063 GOA
enables heparin binding IDA
IDA: 通过直接分析推断
12815063 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22364545 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within JNK cascade IPI
IPI: 通过物理相互作用推断
12815063 GOA
NOT acts upstream of or within fibroblast growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
12815063 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FGF14 蛋白结构

FGF

FGF: Fibroblast growth factor (72 - 197)

  • 0
  • 100
  • 200
  • 247 a.a.
蛋白主名 其他名称

fibroblast growth factor 14

fibroblast growth factor homologous factor 4

重组 FGF14 蛋白

目录号 产品名 蛋白编号 纯度
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%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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