2. Gene
  3. FGF12 - fibroblast growth factor 12 Gene

FGF12 - fibroblast growth factor 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：成纤维细胞生长因子 12

种属: Homo sapiens

同用名: FHF1; DEE47; EIEE47; FGF12B

基因 ID: 2257 | 基因类型: protein coding

关于 FGF12

Cytogenetic location: 3q28-q29 Genomic coordinates (GRCh38): 3:192,139,390-192,727,541 (from NCBI)

This gene has 14 transcripts (splice variants), 281 orthologues, 21 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 20.8), brain (RPKM 14.1) and 2 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。这种生长因子缺乏大多数 FGF 家族成员中存在的 N 末端信号序列，但它包含已被证明可作为核定位信号的碱性残基簇。当转染到哺乳动物细胞中时，这种蛋白质会在细胞核中积累，但不会被分泌。该基因的具体功能尚未确定。[RefSeq 提供，2019 年 12 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 growth factor lacks the N-terminal signal sequence present in most of the FGF Family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

FGF12 基因产物(5)

mRNA Protein Name
NM_001377292.1 NP_001364221.1 fibroblast growth factor 12 isoform 3
NM_001377293.1 NP_001364222.1 fibroblast growth factor 12 isoform 4
NM_001377294.1 NP_001364223.1 fibroblast growth factor 12 isoform 4
NM_004113.6 NP_004104.3 fibroblast growth factor 12 isoform 2
NM_021032.5 NP_066360.1 fibroblast growth factor 12 isoform 1
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
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
22705208 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
involved in regulation of neuronal action potential IMP
IMP: 通过突变表型推断
27164707 GOA
involved in regulation of voltage-gated sodium channel activity IMP
IMP: 通过突变表型推断
27164707 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

FGF12 蛋白结构

FGF

FGF: Fibroblast growth factor (74 - 198)

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

fibroblast growth factor 12

fibroblast growth factor 12B

重组 FGF12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7343 FGF-12 Protein, Human (177 a.a) P61328-1 (E67-T243) ≥95%
HY-P72654 FGF-12 Protein, Human P61328-2 (M1-T181) ≥95%
HY-P700056AF Animal-Free FGF-12 Protein, Human (His) P61328-2 (M1-T181) ≥95%
HY-P71959A FGF-12 Protein, Human (181a.a, His) P61328-2 (M1-T181) ≥95%

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 47

DEE47

Epileptic Encephalopathy, Early Infantile, 47

Eiee47

Developmental And Epileptic Encephalopathy, 47

Early Infantile Epileptic Encephalopathy 47
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Myasthenic Syndrome, Congenital, 22

CMS22

Prepl Deficiency

Congenital Myasthenic Syndrome 22
Deafness, Autosomal Dominant 44

DFNA44

Autosomal Dominant Nonsyndromic Deafness 44

Autosomal Dominant Deafness 44

Deafness, Autosomal Dominant, 44

Deafness, Autosomal Dominant, Type 44
Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset

Eeoc

DEE94

Childhood Onset Epileptic Encephalopathy

Encephalopathy, Epileptic, Childhood-Onset
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04889 FGF12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta FGF12 VGNC VGNC:72644
Mus musculus FGF12 MGD MGI:109183
Canis familiaris FGF12 VGNC VGNC:40841
Bos taurus FGF12 VGNC VGNC:53568
Felis catus FGF12 VGNC VGNC:62246
Rattus norvegicus FGF12 RGD RGD:620163
Others FGF12 NCBI
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