PDGFRA基因详情-基因数据库-基因云馆

PDGFRA (platelet derived growth factor receptor alpha)

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

4q12

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。

中文English

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PDGFRA基因的介绍 Wikipedia数据库中对PDGFRA基因的介绍

PDGFRA基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MGTSHPAFLV LGCLLTGLSL ILCQLSLPSI LPNENEKVVQ
41LNSSFSLRCF GESEVSWQYP MSEEESSDVE IRNEENNSGL
81
FVTVLEVSS ASAAHTGLYT CYYNHTQTEE NELEGRHIYI
121YVPDPDVAFV PLGMTDYLVI VEDDDSAIIP CRTTDPETPV
161T
LHNSEGVV PASYDSRQGF NGTFTVGPYI CEATVKGKKF
201QTIPFNVYAL KATSELDLEM EALKTVYKSG ETIVVTCAVF
241NN
EVVDLQW TYPGEVKGKG ITMLEEIKVP SIKLVYTLTV
281PEATVKDSGD YECAARQATR EVKEMKKVTI SVHEKGFIEI
321KPT
FSQLEA VNLHEVKHFV VEVRAYPPPR ISWLKNNLTL
361IENLTEITTD VEKIQEIRYR SKLKLIRAKE EDSGHYTIVA
401QNED
AVKSY TFELLTQVPS SILDLVDDHH GSTGGQTVRC
441TAEGTPLPDI EWMICKDIKK CNNETSWTIL ANNVSNIITE
481IHSRD
RSTV EGRVTFAKVE ETIAVRCLAK NLLGAENREL
521KLVAPTLRSE LTVAAAVLVL LVIVIISLIV LVVIWKQKPR
561YEIRWR
VIE SISPDGHEYI YVDPMQLPYD SRWEFPRDGL
601VLGRVLGSGA FGKVVEGTAY GLSRSQPVMK VAVKMLKPTA
641RSSEKQA
LM SELKIMTHLG PHLNIVNLLG ACTKSGPIYI
681ITEYCFYGDL VNYLHKNRDS FLSHHPEKPK KELDIFGLNP
721ADESTRSY
V ILSFENNGDY MDMKQADTTQ YVPMLERKEV
761SKYSDIQRSL YDRPASYKKK SMLDSEVKNL LSDDNSEGLT
801LLDLLSFTY
 QVARGMEFLA SKNCVHRDLA ARNVLLAQGK
841IVKICDFGLA RDIMHDSNYV SKGSTFLPVK WMAPESIFDN
881LYTTLSDVWS 
YGILLWEIF SLGGTPYPGM MVDSTFYNKI
921KSGYRMAKPD HATSEVYEIM VKCWNSEPEK RPSFYHLSEI
961VENLLPGQYK K
SYEKIHLD FLKSDHPAVA RMRVDSDNAY
1001IGVTYKNEED KLKDWEGGLD EQRLSADSGY IIPLPDIDPV
1041PEEEDLGKRN RH
SSQTSEE SAIETGSSSS TFIKREDETI
1081EDIDMMDDIG IDSSDLVEDS FL

结构预测来自 AlphaFold DB（UniProt: P16234），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

PDGFRA基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

TAGGGATAGCTTCCTGAGC

AATAACATAGCTCCGTGTGC

ATTACAACCACACTCAGACAG

AAGGCTACATCTGGGTCTG

TCTATGTTAGGCTGGGCTG

TTCAGATAGTCACGGAAGGC

ATTACAACCACACTCAGACAG

AAGGCTACATCTGGGTCTG

AAGAGATCATTGGAGGCCG

CTCTGGGAAACTTCTCCTCC

ATTACAACCACACTCAGACAG

AAGGCTACATCTGGGTCTG

AAAGGCAGTACCTTTCTGC

AGACATCACTCAGTGTGGT

GTCTTCTCACAGGGCTGAG

AAGGATGAATTCAGCTGCAC

TGTCTTCTCACAGACCCAG

GCGACAAGGTATAATGGCA

CACTATTTCTGTCCATGAGAAAGG

GACTTCATGCAGGTTGACAG

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

PDGFRA基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

可能调控 PDGFRA基因的相关microRNA：

hsa-miR-26b hsa-miR-132* hsa-miR-138 hsa-miR-221 hsa-miR-221* hsa-miR-222 hsa-miR-222* hsa-miR-338-3p hsa-let-7b hsa-miR-140-5p

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
4014 Ras signaling pathway [PATH:hsa04014]
4015 Rap1 signaling pathway [PATH:hsa04015]
4010 MAPK signaling pathway [PATH:hsa04010]
4020 Calcium signaling pathway [PATH:hsa04020]
4151 PI3K-Akt signaling pathway [PATH:hsa04151]
4060 Cytokine-cytokine receptor interaction [PATH:hsa04060]
4144 Endocytosis [PATH:hsa04144]
4810 Regulation of actin cytoskeleton [PATH:hsa04810]
4510 Focal adhesion [PATH:hsa04510]
4540 Gap junction [PATH:hsa04540]
5200 Pathways in cancer [PATH:hsa05200]
5230 Central carbon metabolism in cancer [PATH:hsa05230]
5231 Choline metabolism in cancer [PATH:hsa05231]
5206 MicroRNAs in cancer [PATH:hsa05206]
5214 Glioma [PATH:hsa05214]
5218 Melanoma [PATH:hsa05218]
5215 Prostate cancer [PATH:hsa05215]
5166 HTLV-I infection [PATH:hsa05166]

名称
Adaptive Immune System
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 interactions
DAP12 signaling
Disease
Diseases of signal transduction
Downstream signal transduction
Downstream signaling events of B Cell Receptor (BCR)
Downstream signaling of activated FGFR1
Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
Downstream signaling of activated FGFR4
Fc epsilon receptor (FCERI) signaling
GAB1 signalosome
Immune System
Innate Immune System
NGF signalling via TRKA from the plasma membrane
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
PI3K events in ERBB2 signaling
PI3K events in ERBB4 signaling
PI3K/AKT activation
PI3K/AKT Signaling in Cancer
PIP3 activates AKT signaling
Role of LAT2/NTAL/LAB on calcium mobilization
Signaling by EGFR
Signaling by ERBB2
Signaling by ERBB4
Signaling by FGFR
Signaling by FGFR1
Signaling by FGFR2
Signaling by FGFR3
Signaling by FGFR4
Signaling by PDGF
Signaling by SCF-KIT
Signaling by the B Cell Receptor (BCR)
Signalling by NGF

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

An indolent course of undifferentiated pleomorphic cardiac sarcoma mimicking myxoma: A case report.

Ziaei H, Palmquist E, Fagman H, Johnsson ÅA, Hansson M, Vannas C, Westerberg M, Fagman E Radiol Case Rep 2026-06-00

Therapeutic manipulation and spatial quantification of the tumor microenvironment in colorectal cancer.

Mulholland-Illingworth EJ, Moore JW, Lin M, Amirkhah R, Grzesiak L, Ligeza A, Bull JA, Boen J, Valbuena GN, Gillespie MA, Lannagan TRM, Gilroy K, Mills ML, Corry SM, Ridgway RA, Belnoue-Davis HL, Dunne PD, Sansom OJ, Byrne HM, Leedham SJ iScience 2026-04-17

Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations.

Rammeh S, Ben Taher Y, Ben Rekaya M, Ben Rejeb S, Lahmar A, Jones M, Zeglaoui F, Belguith N Cancer Pathog Ther IF: 5.9 2026-07-00

Clinicogenomic Characteristics and Treatment Outcomes of Patients With Advanced ALK-Rearranged Squamous and Adenosquamous Non-Small Cell Lung Cancers.

Miao EA, Yeap B, Daher S, Lomibao M, Sun F, Keogh R, Lambden J, Reyes A, Peterson JL, Liang J, Liu A, Do A, Lee C, Hsu M, Evangelist M, Reuss J, Gadgeel SM, Lee M, Patil T, Lam V, Neal JW, Drilon A, Lin JJ JCO Precis Oncol 2026-03-00

Spatial single cell transcriptomic analysis informs tumor developmental hierarchy of DICER1 syndrome related sarcoma.

Kommoss FKF, Zhang JYH, Lynch BJ, Chen SY, Senz J, Moscovitz Y, Hill LA, Ma D, Scott RW, Bush J, Chen KS, Roth A, von Deimling A, Foulkes WD, Morin GB, Underhill TM, Wang Y, Huntsman DG Nat Commun IF: 12.124 2026-03-30

The postnatal expression of transcripts and proteins in the corpus callosum, as well as its myelinization, is affected by the congenital absence of AQP4.

Mayo F, González-Vinceiro L, Hiraldo-González L, Torres-Rubio I, Calle-Castillejo C, Sobh-Doush E, Ramírez-Lorca R, Echevarría M J Physiol Biochem IF: 5.1 2026-03-31

Bifocal cerebellar liponeurocytoma with atypical features: A case report and a literature review.

Al-Hussaini M, Al Sharie S, Azzam S, Erashdi M, Mansour A, Obeidat M Clin Neuropathol IF: 0.7 None

Deciphering immune and cellular reprogramming during the progression from inflammatory bowel disease to colorectal cancer using multi-omics single-cell and spatial transcriptomics.

Hosseini ST, AminianToosi K, Nemati F, BishehKolaei R, Deng Y J Transl Med IF: 3.786 2026-04-18

Comparison of gene fusion detection algorithms reveals frequently overlooked driver fusions in hematologic malignancies.

Tamura Z, Saito Y, Kogure Y, Oshikawa-Kumade Y, Fukuhara S, Shingaki S, Kariyazono H, Kikukawa Y, Ito Y, Mizuno K, Shiraishi Y, Katayama K, Imoto S, Izutsu K, Murakami K, Koya J, Kataoka K NPJ Precis Oncol 2026-04-04

Targeted Therapy for Advanced Gastrointestinal Stromal Tumors: Evolution and Future Directions.

Wang XD, Shou CH, Chen SC, Hong YY, Zhu KK, Yang WL, Yu JR Drug Des Devel Ther IF: 6.1 None

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PDGFRA (platelet derived growth factor receptor alpha)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

联系地址

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