PDGFRA (platelet derived growth factor receptor alpha)

基因基本信息

基因基本信息

symbol:
PDGFRA
locus group:
protein-coding gene
location:
4q12
gene_family:
Receptor Tyrosine Kinases|CD molecules|I-set domain containing
alias symbol:
CD140a|PDGFR2|GAS9
alias name:
None
entrez id:
5156
ensembl gene id:
ENSG00000134853
ucsc gene id:
uc003han.5
refseq accession:
NM_006206
hgnc_id:
HGNC:8803
approved reserved:
1989-05-19

基因染色体位置

基因染色体位置

4q12
基因染色体位置图

基因简述

基因简述

PDGFRA（血小板衍生生长因子受体α）基因位于人类染色体4q12，编码血小板衍生生长因子受体α，属于受体酪氨酸激酶家族中的PDGFR亚家族。该基因家族还包括PDGFRB，其共性是参与细胞增殖、迁移和存活等信号传导过程，尤其在胚胎发育、血管形成和组织修复中起关键作用。PDGFRA与其配体PDGF结合后形成二聚体并自磷酸化，激活下游信号通路如PI3K-AKT和RAS-MAPK，调控细胞生长与分化。PDGFRA在间充质细胞、胶质细胞和胃肠道间质细胞中高表达，对神经系统发育和肠道Cajal间质细胞功能至关重要。突变可导致功能异常，如激活性突变（如D842V）与胃肠道间质瘤（GIST）和某些白血病相关，而失活突变可能影响神经嵴细胞迁移，导致先天性巨结肠症。PDGFRA过表达会持续激活促增殖信号，诱发肿瘤或纤维化疾病；表达降低则可能影响组织修复和血管稳态。该基因与KIT基因协同作用，在GIST中常见共突变。靶向PDGFRA的抑制剂（如伊马替尼）用于治疗相关肿瘤，但耐药突变需二代药物（如阿伐替尼）应对。PDGFRA的异常还可能与胶质瘤和某些炎症性疾病相关，其调控机制涉及表观遗传修饰和microRNA干预。

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

该基因编码的血小板衍生的生长因子家族的成员的细胞表面酪氨酸激酶受体。这些生长因子是间充质来源的细胞有丝分裂原。结合到受体单体生长因子的身份确定功能性受体是否是同二聚体或异二聚体，既血小板衍生的生长因子受体α和β多肽的组成。研究表明，这种基因在器官发育，伤口愈合和肿瘤进展中的作用。在这种基因突变与特发性嗜酸性细胞增多症，躯体和家族性胃肠道基质肿瘤，和各种其它癌症相关联。 [由RefSeq的，2012年3月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

PDGFRA基因的碱基突变：           仅显示部分snp
rs3690       rs869978       rs890203       rs950597       rs1105825       rs1135534       rs1316926       rs1388997       rs1388999       rs1492765       rs1492766       rs1547904       rs1547905       rs1565664       rs1565669       rs1565670       rs1800809      

基因表达

基因表达

PDGFRA基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TAGGGATAGCTTCCTGAGC
58
AATAACATAGCTCCGTGTGC
58
ATTACAACCACACTCAGACAG
58
AAGGCTACATCTGGGTCTG
59
TCTATGTTAGGCTGGGCTG
59
TTCAGATAGTCACGGAAGGC
60
ATTACAACCACACTCAGACAG
58
AAGGCTACATCTGGGTCTG
59
AAGAGATCATTGGAGGCCG
59
CTCTGGGAAACTTCTCCTCC
59
ATTACAACCACACTCAGACAG
58
AAGGCTACATCTGGGTCTG
59
AAAGGCAGTACCTTTCTGC
58
AGACATCACTCAGTGTGGT
58
GTCTTCTCACAGGGCTGAG
59
AAGGATGAATTCAGCTGCAC
59
TGTCTTCTCACAGACCCAG
59
GCGACAAGGTATAATGGCA
58
CACTATTTCTGTCCATGAGAAAGG
60
GACTTCATGCAGGTTGACAG
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CEBPD
PDGFRA
Unknown
11278956
GLI1
PDGFRA
Activation
21135115
GLI2
PDGFRA
Activation
21135115
PAX1
PDGFRA
Unknown
9826722

基因本体信息

PDGFRA基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

PDGFRA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005018
D6RDX0 (UniProtKB)
IEA
GO:0035790
D6RDX0 (UniProtKB)
IEA
GO:0005018
D6RG11 (UniProtKB)
IEA
GO:0035790
D6RG11 (UniProtKB)
IEA
GO:0005018
D6RIG5 (UniProtKB)
IEA
GO:0035790
D6RIG5 (UniProtKB)
IEA
GO:0005018
D6RJH0 (UniProtKB)
IEA
GO:0035790
D6RJH0 (UniProtKB)
IEA
GO:0000165
P16234 (UniProtKB)
TAS
GO:0001553
P16234 (UniProtKB)
ISS
GO:0001775
P16234 (UniProtKB)
TAS
GO:0004672
P16234 (UniProtKB)
IDA
GO:0004714
P16234 (UniProtKB)
IDA
GO:0005018
P16234 (UniProtKB)
IDA
GO:0005018
P16234 (UniProtKB)
IDA
GO:0005018
P16234 (UniProtKB)
IMP
GO:0005018
P16234 (UniProtKB)
IDA
GO:0005021
P16234 (UniProtKB)
IDA
GO:0005088
P16234 (UniProtKB)
TAS
GO:0005161
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005515
P16234 (UniProtKB)
IPI
GO:0005524
P16234 (UniProtKB)
IEA
GO:0005634
P16234 (UniProtKB)
ISS
GO:0005737
P16234 (UniProtKB)
ISS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005886
P16234 (UniProtKB)
TAS
GO:0005887
P16234 (UniProtKB)
IDA
GO:0007204
P16234 (UniProtKB)
IMP
GO:0008284
P16234 (UniProtKB)
IMP
GO:0010544
P16234 (UniProtKB)
IDA
GO:0010863
P16234 (UniProtKB)
IMP
GO:0014066
P16234 (UniProtKB)
TAS
GO:0014068
P16234 (UniProtKB)
TAS
GO:0016020
P16234 (UniProtKB)
IDA
GO:0016032
P16234 (UniProtKB)
IEA
GO:0018108
P16234 (UniProtKB)
IDA
GO:0018108
P16234 (UniProtKB)
IDA
GO:0018108
P16234 (UniProtKB)
IDA
GO:0030335
P16234 (UniProtKB)
IMP
GO:0030335
P16234 (UniProtKB)
IDA
GO:0031226
P16234 (UniProtKB)
IDA
GO:0034614
P16234 (UniProtKB)
IDA
GO:0035790
P16234 (UniProtKB)
IMP
GO:0038085
P16234 (UniProtKB)
IPI
GO:0038091
P16234 (UniProtKB)
IDA
GO:0042060
P16234 (UniProtKB)
ISS
GO:0042803
P16234 (UniProtKB)
IDA
GO:0043234
P16234 (UniProtKB)
IDA
GO:0043547
P16234 (UniProtKB)
IEA
GO:0043552
P16234 (UniProtKB)
IMP
GO:0045740
P16234 (UniProtKB)
IDA
GO:0046777
P16234 (UniProtKB)
IDA
GO:0046777
P16234 (UniProtKB)
IDA
GO:0046777
P16234 (UniProtKB)
IDA
GO:0046854
P16234 (UniProtKB)
IEA
GO:0046934
P16234 (UniProtKB)
TAS
GO:0048008
P16234 (UniProtKB)
IDA
GO:0048008
P16234 (UniProtKB)
IDA
GO:0048015
P16234 (UniProtKB)
IMP
GO:0048015
P16234 (UniProtKB)
TAS
GO:0048146
P16234 (UniProtKB)
IDA
GO:0048407
P16234 (UniProtKB)
IPI
GO:0048407
P16234 (UniProtKB)
IPI
GO:0048407
P16234 (UniProtKB)
IPI
GO:0048407
P16234 (UniProtKB)
IDA
GO:0048407
P16234 (UniProtKB)
IDA
GO:0048557
P16234 (UniProtKB)
ISS
GO:0048701
P16234 (UniProtKB)
ISS
GO:0048704
P16234 (UniProtKB)
ISS
GO:0050920
P16234 (UniProtKB)
IMP
GO:0055003
P16234 (UniProtKB)
ISS
GO:0060326
P16234 (UniProtKB)
IMP
GO:0061298
P16234 (UniProtKB)
ISS
GO:0070374
P16234 (UniProtKB)
IMP
GO:0070527
P16234 (UniProtKB)
IMP
GO:0072277
P16234 (UniProtKB)
ISS
GO:2000249
P16234 (UniProtKB)
TAS
GO:2000739
P16234 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 PDGFRA基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Gastrointestinal Stromal Tumors 0.615647294 292 10 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT
Hypereosinophilic syndrome 0.145303683 38 1 BeFree_CTD_human_LHGDN
Chronic eosinophilic leukemia 0.134657861 54 2 BeFree_ORPHANET
Spina Bifida 0.126448592 5 1 BeFree_CTD_human_GAD_LHGDN
Medulloblastoma 0.123538676 5 0 BeFree_CTD_human_LHGDN
Regular astigmatism - corneal 0.120814326 3 1 BeFree_GWASCAT
Cleft Palate 0.120271442 2 0 BeFree_CTD_human
Chondrosarcoma, Mesenchymal 0.12 1 0 CTD_human
Craniofacial Abnormalities 0.12 1 0 CTD_human
Lung diseases 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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