PDGFRB (platelet derived growth factor receptor beta)

基因基本信息

基因基本信息

symbol:
PDGFRB
locus group:
protein-coding gene
location:
5q32
gene_family:
Receptor Tyrosine Kinases|CD molecules|I-set domain containing|Immunoglobulin-like domain containing
alias symbol:
JTK12|CD140b|PDGFR1
alias name:
None
entrez id:
5159
ensembl gene id:
ENSG00000113721
ucsc gene id:
uc003lro.4
refseq accession:
NM_002609
hgnc_id:
HGNC:8804
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

5q32
基因染色体位置图

基因简述

基因简述

PDGFRB（血小板衍生生长因子受体β）是一种编码跨膜酪氨酸激酶受体的基因，属于血小板衍生生长因子受体（PDGFR）家族，该家族还包括PDGFRA。PDGFR家族成员在细胞增殖、迁移和存活中起关键作用，主要通过结合PDGF配体（如PDGF-BB）激活下游信号通路（如PI3K-AKT和RAS-MAPK）。PDGFRB主要在血管平滑肌细胞、周细胞和成纤维细胞中表达，参与血管发育和组织修复。突变或异常表达会导致功能失调，例如PDGFRB的激活突变（如D849V）与某些癌症（如胃肠道间质瘤）和罕见疾病（如早发性婴儿肌纤维瘤病）相关。过表达PDGFRB可能导致异常细胞增殖和血管生成，促进肿瘤生长和转移；而表达降低则可能影响血管稳定性和组织修复能力。PDGFRB还与特发性肺纤维化和动脉粥样硬化等疾病有关。该基因家族的特点是具有胞外免疫球蛋白样结构域、跨膜区和胞内酪氨酸激酶结构域，通过二聚化和自磷酸化激活下游信号。靶向PDGFRB的药物（如伊马替尼）已用于治疗相关疾病。

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. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]

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。此基因是由基因粒细胞巨噬细胞集落刺激因子和巨噬细胞集落刺激因子受体侧翼染色体5上;所有这三个基因可以在5-Q综合征牵连。染色体5和12之间的易位，即熔断器这个基因的易位，ETV6，白血病基因的，结果在与嗜酸性粒细胞慢性骨髓增殖性疾病。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

PDGFRB基因的碱基突变：           仅显示部分snp
rs6674       rs12238       rs1017375       rs1804142       rs1864973       rs2236776       rs2236777       rs7447238       rs7726051       rs55712339       rs57883901       rs73796318       rs111348154       rs140779761       rs141514628       rs143547069       rs144552359      

基因表达

基因表达

PDGFRB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
GTAAGGAGGACTTCCTGGAG
59
GTCTTCAGTGAGCTCCTCC
60
TGGATTCTGATGCCTACTATGTC
60
TGATGGATGACACTCTGCTG
60
CCTTACGATAACTACGTTCCCT
60
CGTTGATCAAAGTTGCTCG
58
ATCTTTGTGCCAGATCCCA
59
GTGATCTCAGTTATTTCCGTGAG
59
GAGTGAGTGTGCTCTCCTG
60
GCTCATGTCCATGTAGCCA
60
GTCTACAGACTCCAGGTGTC
59
TGAGGGTGATGTTCTCACC
59
ATCTTTGTGCCAGATCCCA
59
GTGATCTCAGTTATTTCCGTGAG
59
CTATGACTCCACGTGGGAG
59
ATTTAAGCATCTTGACGGCC
59
TTCTGGCCTCCAAGAACTG
60
GCTTGCCTTCACAGATGAG
59
CATCAGCAGCAAGATAAGAGC
60
GGTATCCAGTAGCCTACCAG
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）
TP53
PDGFRB
Activation
18697203
ZNF24
PDGFRB
Repression
20510677

基因本体信息

PDGFRB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

PDGFRB基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005019
E5RH16 (UniProtKB)
IEA
GO:0035791
E5RH16 (UniProtKB)
IEA
GO:0005019
E5RII0 (UniProtKB)
IEA
GO:0035791
E5RII0 (UniProtKB)
IEA
GO:0005019
E5RJ14 (UniProtKB)
IEA
GO:0035791
E5RJ14 (UniProtKB)
IEA
GO:0000165
P09619 (UniProtKB)
TAS
GO:0004713
P09619 (UniProtKB)
IDA
GO:0004992
P09619 (UniProtKB)
TAS
GO:0005017
P09619 (UniProtKB)
TAS
GO:0005019
P09619 (UniProtKB)
IDA
GO:0005019
P09619 (UniProtKB)
IDA
GO:0005019
P09619 (UniProtKB)
IMP
GO:0005019
P09619 (UniProtKB)
IMP
GO:0005019
P09619 (UniProtKB)
IDA
GO:0005088
P09619 (UniProtKB)
TAS
GO:0005102
P09619 (UniProtKB)
IPI
GO:0005161
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005515
P09619 (UniProtKB)
IPI
GO:0005524
P09619 (UniProtKB)
IEA
GO:0005634
P09619 (UniProtKB)
ISS
GO:0005737
P09619 (UniProtKB)
ISS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005886
P09619 (UniProtKB)
TAS
GO:0005925
P09619 (UniProtKB)
IDA
GO:0006024
P09619 (UniProtKB)
IEA
GO:0007165
P09619 (UniProtKB)
IDA
GO:0007186
P09619 (UniProtKB)
IEA
GO:0008284
P09619 (UniProtKB)
IMP
GO:0009636
P09619 (UniProtKB)
IEA
GO:0010863
P09619 (UniProtKB)
IDA
GO:0014066
P09619 (UniProtKB)
TAS
GO:0014068
P09619 (UniProtKB)
ISS
GO:0014911
P09619 (UniProtKB)
ISS
GO:0014911
P09619 (UniProtKB)
ISS
GO:0014911
P09619 (UniProtKB)
IMP
GO:0016020
P09619 (UniProtKB)
IDA
GO:0016020
P09619 (UniProtKB)
IDA
GO:0016021
P09619 (UniProtKB)
IEA
GO:0016023
P09619 (UniProtKB)
IEA
GO:0016324
P09619 (UniProtKB)
ISS
GO:0016477
P09619 (UniProtKB)
IMP
GO:0018108
P09619 (UniProtKB)
IDA
GO:0018108
P09619 (UniProtKB)
IDA
GO:0018108
P09619 (UniProtKB)
IDA
GO:0019901
P09619 (UniProtKB)
IPI
GO:0019901
P09619 (UniProtKB)
IPI
GO:0030335
P09619 (UniProtKB)
IDA
GO:0031226
P09619 (UniProtKB)
IDA
GO:0032355
P09619 (UniProtKB)
IEA
GO:0032516
P09619 (UniProtKB)
IDA
GO:0032526
P09619 (UniProtKB)
IEA
GO:0032956
P09619 (UniProtKB)
ISS
GO:0032967
P09619 (UniProtKB)
IEA
GO:0034405
P09619 (UniProtKB)
IEA
GO:0035441
P09619 (UniProtKB)
ISS
GO:0035789
P09619 (UniProtKB)
IEA
GO:0035791
P09619 (UniProtKB)
IMP
GO:0035791
P09619 (UniProtKB)
IMP
GO:0035793
P09619 (UniProtKB)
ISS
GO:0035909
P09619 (UniProtKB)
ISS
GO:0036120
P09619 (UniProtKB)
IEA
GO:0038085
P09619 (UniProtKB)
IPI
GO:0038091
P09619 (UniProtKB)
IDA
GO:0042060
P09619 (UniProtKB)
IEA
GO:0042542
P09619 (UniProtKB)
IEA
GO:0043066
P09619 (UniProtKB)
IEA
GO:0043202
P09619 (UniProtKB)
IEA
GO:0043406
P09619 (UniProtKB)
ISS
GO:0043547
P09619 (UniProtKB)
IEA
GO:0043548
P09619 (UniProtKB)
IEA
GO:0043552
P09619 (UniProtKB)
IDA
GO:0045840
P09619 (UniProtKB)
ISS
GO:0046488
P09619 (UniProtKB)
IMP
GO:0046777
P09619 (UniProtKB)
IDA
GO:0046777
P09619 (UniProtKB)
IDA
GO:0046777
P09619 (UniProtKB)
IDA
GO:0046854
P09619 (UniProtKB)
IEA
GO:0046934
P09619 (UniProtKB)
TAS
GO:0048008
P09619 (UniProtKB)
IDA
GO:0048008
P09619 (UniProtKB)
IDA
GO:0048015
P09619 (UniProtKB)
IMP
GO:0048015
P09619 (UniProtKB)
TAS
GO:0048407
P09619 (UniProtKB)
IPI
GO:0048407
P09619 (UniProtKB)
IDA
GO:0048407
P09619 (UniProtKB)
IDA
GO:0048661
P09619 (UniProtKB)
ISS
GO:0048661
P09619 (UniProtKB)
IMP
GO:0048839
P09619 (UniProtKB)
IEA
GO:0050921
P09619 (UniProtKB)
ISS
GO:0055003
P09619 (UniProtKB)
ISS
GO:0055093
P09619 (UniProtKB)
IEA
GO:0060326
P09619 (UniProtKB)
IDA
GO:0060326
P09619 (UniProtKB)
IDA
GO:0060981
P09619 (UniProtKB)
ISS
GO:0061298
P09619 (UniProtKB)
ISS
GO:0070062
P09619 (UniProtKB)
IDA
GO:0070374
P09619 (UniProtKB)
ISS
GO:0070374
P09619 (UniProtKB)
IMP
GO:0071670
P09619 (UniProtKB)
ISS
GO:0072075
P09619 (UniProtKB)
IEA
GO:0072262
P09619 (UniProtKB)
ISS
GO:0072277
P09619 (UniProtKB)
ISS
GO:0072278
P09619 (UniProtKB)
IEA
GO:0072284
P09619 (UniProtKB)
IEA
GO:0090280
P09619 (UniProtKB)
ISS
GO:2000379
P09619 (UniProtKB)
ISS
GO:2000573
P09619 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 PDGFRB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
Infantile myofibromatosis 0.361085767 4 2 BeFree_CLINVAR_ORPHANET_UNIPROT
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 0.24 0 0 CTD_human_ORPHANET
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 0.24 1 3 CLINVAR_UNIPROT
Liver Cirrhosis, Experimental 0.2 3 0 CTD_human_RGD
Leukemia, Myelomonocytic, Chronic 0.121357209 5 0 BeFree_ORPHANET
Penttinen-Aula syndrome 0.12 0 0 ORPHANET
Calcinosis 0.12 1 0 CTD_human
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement 0.12 0 0 ORPHANET
Basal Ganglia Diseases 0.12 1 0 CTD_human
Fahr's syndrome (disorder) 0.12 0 0 ORPHANET

基因相关服务

基因相关服务

联系方式

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