FGF13 - fibroblast growth factor 13 Gene

中文名称：成纤维细胞生长因子 13

种属: Homo sapiens

同用名: FGF2; FHF2; DEE90; FHF-2; FGF-13; LINC00889

基因 ID: 2258 | 基因类型: protein coding

关于 FGF13

Cytogenetic location: Xq26.3-q27.1 Genomic coordinates (GRCh38): X:138,614,727-139,205,023 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues, 21 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 11.3), fat (RPKM 6.2) and 21 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。该基因位于 X 染色体上的一个区域，该区域与 Borjeson-Forssman-Lehmann 综合征 (BFLS) 相关，使其成为 BFLS 家族病例以及其他综合征和非特异性 X 连锁认知综合征的可能候选基因残疾映射到这个区域。该基因在 5' 端的可变剪接导致几种转录变体编码具有不同 N 末端的不同亚型。[RefSeq 提供，2008 年 11 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. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for Other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]

FGF13 基因产物(6)

mRNA	Protein	Name
NM_001139498.2	NP_001132970.1	fibroblast growth factor 13 isoform 4
NM_001139500.2	NP_001132972.1	fibroblast growth factor 13 isoform 2
NM_001139501.2	NP_001132973.1	fibroblast growth factor 13 isoform 3
NM_001139502.2	NP_001132974.1	fibroblast growth factor 13 isoform 3
NM_004114.5	NP_004105.1	fibroblast growth factor 13 isoform 1
NM_033642.3	NP_378668.1	fibroblast growth factor 13 isoform 5

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	15282281	GOA
enables sodium channel regulator activity	IDA IDA: 通过直接分析推断	15282281	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within MAPK cascade	IDA IDA: 通过直接分析推断	12244047	GOA
involved in positive regulation of voltage-gated sodium channel activity	IDA IDA: 通过直接分析推断	36696443	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	8790420	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

FGF13 蛋白结构

FGF

0
100
200
245 a.a.

蛋白主名

其他名称

fibroblast growth factor 13

fibroblast growth factor homologous factor 2

FGF13 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FGF13	Q92913	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 FGF13 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72803	FGF-13 Protein, Human	Q92913-1 (M1-T245)	≥95%
HY-P700057AF	Animal-Free FGF-13 Protein, Human (His)	Q92913-1 (M1-T245)	≥95%

关联疾病

疾病名称

别名

Developmental And Epileptic Encephalopathy 90

DEE90

Developmental And Epileptic Encephalopathy, 90

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Borjeson-Forssman-Lehmann Syndrome

BFLS	Borj
Borjeson Syndrome	Mrxsbfl
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome	Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Mental Retardation, Epilepsy, And Endocrine Disorders
Mental Retardation, Epilepsy, And Endocrine Disorder	Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
Mental Deficiency, Epilepsy And Endocrine Disorders	Boerjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman Syndrome	Mental Deficiency-Epilepsy- Endocrine Disorders

Wildervanck Syndrome

Cervicooculoacoustic Syndrome	Coa Syndrome
Cervico-Oculo-Acoustic Dysplasia	Cervico-Oculo-Acoustic Syndrome
Wildervanck'S Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Hypertrichosis

Crouzon Syndrome

Crouzon Craniofacial Dysostosis	Craniofacial Dysostosis
Cfd1	Craniofacial Dysostosis Type 1
Crouzon Disease	Crouzon'S Disease
Craniofacial Dysostosis, Type I	Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndrome	CS
Craniofacial Dysostosis Type I	Vogt Cephalosyndactyly

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism	OGD
Fairbank-Keats Syndrome	Osteoglosphonic Dysplasia
Dysplasia, Osteoglophonic

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia	Thanatophoric Dwarfism
Thanatophoric Dysplasia Type 1	TD1
Td	Thanatophoric Short Stature
Thanatophoric Dwarfism Type 1	Thanatophoric Dysplasia Type I
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type	Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
Skeletal Dysplasia, San Diego Type	Plsd San Diego Type
Thanatophoric Dwarfism 1	Dwarfism Thanatophoric
Dwarf, Thanatophoric	Thanatophoric Dysplasia 1
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type	Platyspondylic Lethal Skeletal Dysplasia San Diego Type
Thanatophoric Dwarf	Thanatophoric Dwarfism Or Short Stature
Thanatophoric Dwarfism Syndrome	Td - [Thanatophoric Dwarfism]

Apert Syndrome

Acrocephalosyndactyly Type I	Acs1
Acrocephalosyndactylia	Acrocephalosyndactyly
Acs I	Apert-Crouzon Disease
Acrocephalosyndactyly Type 1	Acrocephalosyndactyly, Type I
Acs 1	Acrocephalo-Syndactyly Type 1
Syndactylic Oxycephaly	Apert'S Syndrome
Type I Acrocephalosyndactyly	APRS

Phenylketonuria

Phenylalanine Hydroxylase Deficiency	PKU
Pah Deficiency	Folling Disease
Maternal Phenylketonuria	Phenylketonurias
Oligophrenia Phenylpyruvica	Hyperphenylalaninemia, Non-Pku Mild
Folling'S Disease	Phenylalaninemia
Mild Phenylketonuria	Mild Pku
Variant Pku	Variant Phenylketonuria
Mpku	Deficiency Disease, Phenylalanine Hydroxylase
Phenylketonuria, Maternal	Phenylalanine Hydroxylase Deficiency Disease
Hyperphenylalaninemic Embryopathy	Maternal Pku
Maternal Hyperphenylalaninemia	Phenylketonuric Embryopathy
Hyperphenylalaninemia	HPA
Non-Phenylketonuria Hyperphenylalaninemia	NON-PKU HPA
Phenylketonuria Maternal	Classical Phenylketonuria
Hyperphenylalaninaemia	Pku - [Phenylketonuria]

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Dyssegmental Dysplasia, Silverman-Handmaker Type

DDSH	Silverman-Handmaker Type Dyssegmental Dysplasia
Dyssegmental Dysplasia Silverman-Handmaker Type	Dyssegmental Dwarfism Silverman-Handmaker Type
Dyssegmental Dwarfism, Silverman-Handmaker Type	Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type	Dysplasia, Dyssegmental, Silverman-Handmaker Type

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2	PPCD2
Corneal Dystrophy, Posterior Polymorphous 2	Corneal Dystrophy Polymorphous Posterior, 2
Dystrophy, Corneal, Posterior Polymorphous, Type 2

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04890	FGF13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	FGF13	VGNC	VGNC:62247
Rattus norvegicus	FGF13	RGD	RGD:620164
Canis familiaris	FGF13	VGNC	VGNC:40842
Bos taurus	FGF13	VGNC	VGNC:28972
Mus musculus	FGF13	MGD	MGI:109178
Others	FGF13	NCBI

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站点地图隐私声明

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上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

FGF13 - fibroblast growth factor 13 Gene

关于 FGF13

功能概要

FGF13 基因产物(6)

FGF13 蛋白结构

FGF13 蛋白互作信息

重组 FGF13 蛋白

关联疾病

直系同源

热门区域

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FGF13 - fibroblast growth factor 13 Gene

关于 FGF13

功能概要

FGF13 基因产物(6)

FGF13 蛋白结构

FGF13 蛋白互作信息

重组 FGF13 蛋白

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

L

N

Q

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