PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

基因基本信息

基因基本信息

symbol:
PIK3CA
locus group:
protein-coding gene
location:
3q26.32
gene_family:
Phosphatidylinositol 3-kinase subunits
alias symbol:
PI3K
alias name:
None
entrez id:
5290
ensembl gene id:
ENSG00000121879
ucsc gene id:
uc003fjk.4
refseq accession:
NM_006218
hgnc_id:
HGNC:8975
approved reserved:
1994-07-15

基因染色体位置

基因染色体位置

3q26.32

基因简述

基因简述

PIK3CA基因编码磷脂酰肌醇3-激酶（PI3K）的催化亚基p110α，属于I类PI3K家族。该基因家族成员（包括PIK3CA、PIK3CB、PIK3CD和PIK3CG）的共同特点是能够磷酸化细胞膜上的磷脂酰肌醇，生成第二信使PIP3，进而激活AKT/mTOR等下游信号通路，调控细胞增殖、存活、代谢和迁移等关键生物学过程。PIK3CA主要在细胞质和细胞膜上发挥作用，其表达产物p110α与调节亚基p85结合形成异源二聚体，响应生长因子受体（如EGFR、HER2）的激活而启动信号传导。该基因的常见突变（如E542K、E545K和H1047R）会导致p110α蛋白的持续激活，进而引发PI3K/AKT/mTOR信号通路过度活跃，促进肿瘤发生。这些突变与多种癌症密切相关，包括乳腺癌（约40%的激素受体阳性病例）、结直肠癌（约20%）、子宫内膜癌（约30%）和卵巢癌等。当PIK3CA过表达时，会增强细胞增殖和抗凋亡能力，同时抑制自噬，促进肿瘤进展和耐药性形成；而表达降低则可能抑制肿瘤生长但可能影响正常组织的代谢平衡。此外，PIK3CA突变还可能导致PIK3CA相关过度生长综合征（PROS），表现为血管畸形和组织过度生长。该基因与PTEN形成负反馈调节，当PIK3CA异常激活时会抑制PTEN功能，进一步放大致癌信号。针对PIK3CA突变开发的靶向药物（如Alpelisib）已用于临床治疗，但耐药性问题仍待解决。

中文English

无

OMIM数据库中对PIK3CA基因的介绍     Wikipedia数据库中对PIK3CA基因的介绍

基因序列

基因序列

PIK3CA基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MPPRPSSGEL WGIHLMPPRI LVECLLPNGM IVTLECLREA
41TLITIKHELF KEARKYPLHQ LLQDESSYIF VSVTQEAERE
81 EFFDETRRL CDLRLFQPFL KVIEPVGNRE EKILNREIGF
121AIGMPVCEFD MVKDPEVQDF RRNILNVCKE AVDLRDLNSP
161H SRAMYVYP PNVESSPELP KHIYNKLDKG QIIVVIWVIV
201SPNNDKQKYT LKINHDCVPE QVIAEAIRKK TRSMLLSSEQ
241LK LCVLEYQ GKYILKVCGC DEYFLEKYPL SQYKYIRSCI
281MLGRMPNLML MAKESLYSQL PMDCFTMPSY SRRISTATPY
321MNG ETSTKS LWVINSALRI KILCATYVNV NIRDIDKIYV
361RTGIYHGGEP LCDNVNTQRV PCSNPRWNEW LNYDIYIPDL
401PRAA RLCLS ICSVKGRKGA KEEHCPLAWG NINLFDYTDT
441LVSGKMALNL WPVPHGLEDL LNPIGVTGSN PNKETPCLEL
481EFDWF SSVV KFPDMSVIEE HANWSVSREA GFSYSHAGLS
521NRLARDNELR ENDKEQLKAI STRDPLSEIT EQEKDFLWSH
561RHYCVT IPE ILPKLLLSVK WNSRDEVAQM YCLVKDWPPI
601KPEQAMELLD CNYPDPMVRG FAVRCLEKYL TDDKLSQYLI
641QLVQVLK YE QYLDNLLVRF LLKKALTNQR IGHFFFWHLK
681SEMHNKTVSQ RFGLLLESYC RACGMYLKHL NRQVEAMEKL
721INLTDILK Q EKKDETQKVQ MKFLVEQMRR PDFMDALQGF
761LSPLNPAHQL GNLRLEECRI MSSAKRPLWL NWENPDIMSE
801LLFQNNEII FKNGDDLRQD MLTLQIIRIM ENIWQNQGLD
841LRMLPYGCLS IGDCVGLIEV VRNSHTIMQI QCKGGLKGAL
881QFNSHTLHQW LKDKNKGEI YDAAIDLFTR SCAGYCVATF
921ILGIGDRHNS NIMVKDDGQL FHIDFGHFLD HKKKKFGYKR
961ERVPFVLTQD F LIVISKGA QECTKTREFE RFQEMCYKAY
1001LAIRQHANLF INLFSMMLGS GMPELQSFDD IAYIRKTLAL
1041DKTEQEALEY FM KQMNDAH HGGWTTKMDW IFHTIKQHAL
1081N
结构预测来自 AlphaFold DB（UniProt: P42336），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

PIK3CA基因的碱基突变：           仅显示部分snp
rs3914675       rs3976507       rs6782557       rs6806555       rs71628077       rs116503868       rs140534735       rs140852530       rs149692458       rs181034528       rs181341482       rs184550595       rs184651863       rs188928436       rs189483276       rs192514335       rs397840435      

基因表达

基因表达

PIK3CA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
AATACTTGGGTTTCTGCTTTGG
60
TCACCTGATGATGGTCGTG
60
TTACACGATGTTTCTGCTTTGG
60
TCACCTGATGATGGTCGTG
60
GAACCCAGACATCATGTCAG
58
ATATCTTGCCGTAAATCATCCC
59
ATACTTGGGTTTCTGCTTTGG
59
TTCACCTGATGATGGTCGT
59
AACCCAGACATCATGTCAGAG
60
CATATCTTGCCGTAAATCATCCC
60
TACACGATGTTTCTGCTTTGG
59
TTCACCTGATGATGGTCGT
59
TACACGATGTTTCTGCTTTGG
59
TCACCTGATGATGGTCGTG
60
TTCATGGATGCTCTACAGGG
59
TCGACACTCTTCAAGCCTG
60
ATACTTGGGTTTCTGCTTTGG
59
TCACCTGATGATGGTCGTG
60

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）
FOXO3
PIK3CA
Unknown
19299143
HIF1A
PIK3CA
Unknown
23060442

基因本体信息

PIK3CA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

PIK3CA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005622
C9JAM9 (UniProtKB)
IEA
GO:0046854
C9JAM9 (UniProtKB)
IEA
GO:0048015
C9JAM9 (UniProtKB)
IEA
GO:0001525
P42336 (UniProtKB)
IEA
GO:0001889
P42336 (UniProtKB)
IEA
GO:0001944
P42336 (UniProtKB)
TAS
GO:0004674
P42336 (UniProtKB)
IEA
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005515
P42336 (UniProtKB)
IPI
GO:0005524
P42336 (UniProtKB)
IEA
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005829
P42336 (UniProtKB)
TAS
GO:0005886
P42336 (UniProtKB)
IBA
GO:0005942
P42336 (UniProtKB)
ISS
GO:0005943
P42336 (UniProtKB)
IDA
GO:0006006
P42336 (UniProtKB)
IEA
GO:0006468
P42336 (UniProtKB)
IEA
GO:0006661
P42336 (UniProtKB)
TAS
GO:0007173
P42336 (UniProtKB)
TAS
GO:0010468
P42336 (UniProtKB)
IEA
GO:0014066
P42336 (UniProtKB)
TAS
GO:0016301
P42336 (UniProtKB)
TAS
GO:0016301
P42336 (UniProtKB)
TAS
GO:0016301
P42336 (UniProtKB)
TAS
GO:0016301
P42336 (UniProtKB)
TAS
GO:0016301
P42336 (UniProtKB)
TAS
GO:0016303
P42336 (UniProtKB)
IDA
GO:0016303
P42336 (UniProtKB)
TAS
GO:0030027
P42336 (UniProtKB)
IEA
GO:0030168
P42336 (UniProtKB)
TAS
GO:0030168
P42336 (UniProtKB)
TAS
GO:0030295
P42336 (UniProtKB)
IEA
GO:0031295
P42336 (UniProtKB)
TAS
GO:0031295
P42336 (UniProtKB)
TAS
GO:0032147
P42336 (UniProtKB)
IEA
GO:0033138
P42336 (UniProtKB)
IEA
GO:0035004
P42336 (UniProtKB)
ISS
GO:0035004
P42336 (UniProtKB)
TAS
GO:0035005
P42336 (UniProtKB)
IBA
GO:0036092
P42336 (UniProtKB)
IEA
GO:0038028
P42336 (UniProtKB)
TAS
GO:0038095
P42336 (UniProtKB)
TAS
GO:0038096
P42336 (UniProtKB)
TAS
GO:0038128
P42336 (UniProtKB)
TAS
GO:0040014
P42336 (UniProtKB)
IEA
GO:0043457
P42336 (UniProtKB)
IEA
GO:0043491
P42336 (UniProtKB)
IEA
GO:0043524
P42336 (UniProtKB)
IEA
GO:0043542
P42336 (UniProtKB)
TAS
GO:0043560
P42336 (UniProtKB)
IEA
GO:0044029
P42336 (UniProtKB)
IEA
GO:0046854
P42336 (UniProtKB)
ISS
GO:0046934
P42336 (UniProtKB)
IBA
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0046934
P42336 (UniProtKB)
TAS
GO:0048010
P42336 (UniProtKB)
TAS
GO:0048015
P42336 (UniProtKB)
TAS
GO:0050852
P42336 (UniProtKB)
TAS
GO:0050900
P42336 (UniProtKB)
TAS
GO:0060048
P42336 (UniProtKB)
TAS
GO:0060612
P42336 (UniProtKB)
IEA
GO:0071333
P42336 (UniProtKB)
IEA
GO:0097009
P42336 (UniProtKB)
IEA
GO:0098779
P42336 (UniProtKB)
IGI
GO:2000270
P42336 (UniProtKB)
IEA
GO:2000653
P42336 (UniProtKB)
IEA
GO:2000811
P42336 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 PIK3CA基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

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
Liver carcinoma 0.376829396 62 5 BeFree_CLINVAR_CTD_human_UNIPROT
Seborrheic keratosis 0.36408156 8 2 BeFree_CLINVAR_CTD_human_LHGDN_UNIPROT
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 0.360814326 6 3 BeFree_CLINVAR_ORPHANET_UNIPROT
Megalencephaly cutis marmorata telangiectatica congenita 0.360271442 6 6 BeFree_CLINVAR_ORPHANET_UNIPROT
Malignant neoplasm of breast 0.30437577 251 2 BeFree_GAD_MGD_UNIPROT
Stomach Neoplasms 0.245634266 5 3 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Sarcoma 0.241357209 6 1 BeFree_CLINVAR_CTD_human
NEVUS, EPIDERMAL (disorder) 0.240814326 3 1 BeFree_CLINVAR_CTD_human
COWDEN SYNDROME 5 0.24 2 8 CLINVAR_UNIPROT
Colorectal Cancer 0.192269685 130 1 BeFree_GAD_UNIPROT

基因相关文献

基因相关文献

Astragali radix Against Colorectal Cancer: Network Pharmacology, Molecular Docking, and In Vitro/In Vivo Validation of PI3K-Akt Pathway Modulation.
Li Z, Guo J, Gui M, Xu J, Zhao J, Zhang X, Zhang Y, Yang Z, Yang Z, Gao F Phytother Res IF: 8.1 2026-06-00
Cell-Free DNA as Biomarker in Oral Squamous Cell Carcinoma: Dynamics, Mutational Landscape and Clinical Implications.
Veiga P, Barroso L, Pires LM, Mano C, Caramelo F, Carreira IM, Ribeiro IP, de Melo JB Cells 2026-03-23
The Effect of Viniferin on Liver Cancer: Research Based on Network Pharmacology, Molecular Docking and Molecular Dynamics Simulation.
Maungchanburi S, Wongmek O, Baitahay P, Saweak A, Wangkaranae M, Kongwattananon W, Sirirattanakul S, Chatatikun M, Phongphithakchai A, Huang JC, Tedasen A, Jansakun C Med Sci (Basel) 2026-03-11
Age-Associated Genetic Variations in Breast Cancer: Somatic Mutations and Co-Mutations.
Ekinci B, Orenay-Boyacioglu S, Erdogdu IH, Boyacioglu O, Cirak-Balta M, Kahraman-Cetin N, Meteoglu I Biomedicines 2026-02-25
Anthracycline-Free Neoadjuvant Pertuzumab-Trastuzumab-Taxane in Patients with HER2-Positive Early Breast Cancer: Hormone Receptor Status as a Key Determinant of Pathological Complete Response.
Irelli A, Sidoni T, Pavese F, Rotondaro S, Luzi C, Zelli V, Centonze S, Patruno LV, Zazzeroni F, Tessitore A, Cannita K Biomedicines 2026-03-20
Pan-Cancer Targeted Sequencing Reveals Genomic Heterogeneity and Prognostic Subgroups in Urothelial Bladder Cancer.
Ugrinovski D, Saidi S, Stankov V, Ambardjieva M, Josifovska S, Koehler AK, Gabert J, Panov S Cancers (Basel) 2026-03-22

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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