PTEN (phosphatase and tensin homolog)

基因基本信息

基因基本信息

symbol:
PTEN
locus group:
protein-coding gene
location:
10q23.31
gene_family:
C2 tensin-type domain containing|PTEN protein phosphatases
alias symbol:
MMAC1|TEP1|PTEN1
alias name:
mutated in multiple advanced cance…
entrez id:
5728
ensembl gene id:
ENSG00000171862
ucsc gene id:
uc001kfb.4
refseq accession:
NM_000314
hgnc_id:
HGNC:9588
approved reserved:
1997-04-21

基因染色体位置

基因染色体位置

10q23.31
基因染色体位置图

基因简述

基因简述

PTEN（磷酸酶和张力蛋白同源物）是一种重要的抑癌基因，位于人类10号染色体（10q23.3），编码一种具有双重特异性磷酸酶活性的蛋白质。PTEN蛋白的主要功能是通过其脂质磷酸酶活性负调控PI3K/AKT/mTOR信号通路，将PIP3（磷脂酰肌醇-3,4,5-三磷酸）去磷酸化为PIP2（磷脂酰肌醇-4,5-二磷酸），从而抑制细胞增殖、存活和代谢。此外，PTEN还具有蛋白磷酸酶活性，可调节细胞迁移和黏附。PTEN在多种组织中广泛表达，尤其在脑、前列腺和子宫内膜中表达较高。PTEN的突变或缺失会导致PI3K/AKT/mTOR通路过度激活，促进细胞异常增殖和肿瘤发生。PTEN突变与多种癌症密切相关，如胶质母细胞瘤、前列腺癌、子宫内膜癌和乳腺癌等。此外，PTEN突变还与遗传性疾病如PTEN错构瘤综合征（包括Cowden综合征和Bannayan-Riley-Ruvalcaba综合征）相关，这些疾病表现为多发性错构瘤、自闭症谱系障碍和智力障碍。PTEN属于蛋白酪氨酸磷酸酶（PTP）基因家族，该家族成员通过去磷酸化底物蛋白调控细胞信号转导。PTEN过表达会过度抑制PI3K/AKT/mTOR通路，导致细胞凋亡增加和生长抑制，而PTEN表达降低或缺失则会导致AKT过度激活，促进肿瘤发生和转移。PTEN还与其他基因如TP53和CDKN1A相互作用，共同调控细胞周期和基因组稳定性。研究表明，PTEN在干细胞维持、衰老和免疫调节中也发挥重要作用。因此，PTEN是癌症治疗的重要靶点，针对PTEN缺失肿瘤的PI3K/AKT/mTOR抑制剂正在研发中。

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

该基因被确定为是在以高频率的大量癌症中突变的肿瘤抑制。由该基因编码的蛋白质是一个磷脂酰肌醇-3,4,5-三磷酸酯-3-磷酸酶。它包含象域的张力蛋白以及类似于双重特异性蛋白酪氨酸磷酸酶的催化??结构域。不像一般的蛋白酪氨酸磷酸酶的，该蛋白质优选脱磷酸化的磷酸肌醇底物。它负面AKT / PKB信号传导途径负调节细胞和用作抑癌磷脂酰-3,4,5-三磷酸酯的细胞内水平调节。使用非规范（CUG）上游起始位点的产生可启动翻译用亮氨酸较长同种型，并且被认为与线粒体内膜优先相关联。这不再亚型可能有助于调节线粒体能量代谢。该基因的假基因是在9号染色体可变剪接发现和使用多个翻译起始密码子在多个成绩单结果变种编码不同亚型。 [由RefSeq的，2015年2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

PTEN基因的碱基突变：           仅显示部分snp
rs1044322       rs2943772       rs3758479       rs11202592       rs12573787       rs34082073       rs34149102       rs34220389       rs34308750       rs34370865       rs34413673       rs35736544       rs70937047       rs71022512       rs114717956       rs115389083       rs117587034      

基因表达

基因表达

PTEN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
ATGGATTCGACTTAGACTTGAC
58
CAGAAAGGTAAAGAGGAGCA
57
TCATCAAAGAGATCGTTAGCAG
58
AACAGGTCAAGTCTAAGTCGA
59
CGGAACTTGCAATCCTCAG
59
TACATGAACTTGTCTTCCCGT
60
CCATCATCAAAGAGATCGTTAGC
60
ATAGGTCAAGTCTAAGTCGAATCC
60
TTGCAGAGTTGCACAATATCC
59
CATCTTCACTTAGCCATTGGTC
60
ATTGCAGAGTTGCACAATATCC
60
GCCATTGGTCAAGATCTTCAC
60
TCATCAAAGAGATCGTTAGCAG
58
AACAGGTCAAGTCTAAGTCG
57
ATTCGACTTAGACTTGACCTG
58
GTGACAGAAAGGTAAAGAGGA
57
TCATCAAAGAGATCGTTAGCAG
58
TATAGGTCAAGTCTAAGTCGAATCC
60
CGGAACTTGCAATCCTCAG
59
ACATGAACTTGTCTTCCCGT
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）
AR
PTEN
Activation
23418309
AR
PTEN
Unknown
20729295; 21532617
EGR1
PTEN
Activation
17516844; 20514024
EGR1
PTEN
Unknown
20959484
EZH2
PTEN
Unknown
22956625
HES1
PTEN
Repression
18414037
MTA1
PTEN
Repression
22700976
MXD1
PTEN
Repression
17998413
NFKB1
PTEN
Activation
17334236; 19940030
NFKB1
PTEN
Repression
19940030

基因本体信息

PTEN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

PTEN基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004725
A0A087WT17 (UniProtKB)
IEA
GO:0008138
A0A087WT17 (UniProtKB)
IEA
GO:0035335
A0A087WT17 (UniProtKB)
IEA
GO:0004725
A0A0U1RR63 (UniProtKB)
IEA
GO:0008138
A0A0U1RR63 (UniProtKB)
IEA
GO:0035335
A0A0U1RR63 (UniProtKB)
IEA
GO:0000079
P60484 (UniProtKB)
TAS
GO:0000287
P60484 (UniProtKB)
IEA
GO:0001525
P60484 (UniProtKB)
IEA
GO:0001933
P60484 (UniProtKB)
ISS
GO:0001933
P60484 (UniProtKB)
IDA
GO:0002902
P60484 (UniProtKB)
IEA
GO:0004438
P60484 (UniProtKB)
IDA
GO:0004721
P60484 (UniProtKB)
IDA
GO:0004722
P60484 (UniProtKB)
IDA
GO:0004725
P60484 (UniProtKB)
IDA
GO:0005161
P60484 (UniProtKB)
IEA
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005515
P60484 (UniProtKB)
IPI
GO:0005576
P60484 (UniProtKB)
IEA
GO:0005634
P60484 (UniProtKB)
IDA
GO:0005634
P60484 (UniProtKB)
IDA
GO:0005634
P60484 (UniProtKB)
IDA
GO:0005654
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
IDA
GO:0005737
P60484 (UniProtKB)
TAS
GO:0005739
P60484 (UniProtKB)
IEA
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005829
P60484 (UniProtKB)
TAS
GO:0005886
P60484 (UniProtKB)
IDA
GO:0006470
P60484 (UniProtKB)
IDA
GO:0006470
P60484 (UniProtKB)
TAS
GO:0006661
P60484 (UniProtKB)
TAS
GO:0006915
P60484 (UniProtKB)
ISS
GO:0007270
P60484 (UniProtKB)
ISS
GO:0007416
P60484 (UniProtKB)
ISS
GO:0007417
P60484 (UniProtKB)
ISS
GO:0007507
P60484 (UniProtKB)
ISS
GO:0007568
P60484 (UniProtKB)
IEA
GO:0007584
P60484 (UniProtKB)
IEA
GO:0007611
P60484 (UniProtKB)
ISS
GO:0007613
P60484 (UniProtKB)
IEA
GO:0007626
P60484 (UniProtKB)
ISS
GO:0008138
P60484 (UniProtKB)
IEA
GO:0008283
P60484 (UniProtKB)
TAS
GO:0008284
P60484 (UniProtKB)
ISS
GO:0008285
P60484 (UniProtKB)
IMP
GO:0008285
P60484 (UniProtKB)
IMP
GO:0008285
P60484 (UniProtKB)
IDA
GO:0008289
P60484 (UniProtKB)
IEA
GO:0009749
P60484 (UniProtKB)
IEA
GO:0009898
P60484 (UniProtKB)
IDA
GO:0010043
P60484 (UniProtKB)
IEA
GO:0010975
P60484 (UniProtKB)
ISS
GO:0010997
P60484 (UniProtKB)
IPI
GO:0010997
P60484 (UniProtKB)
IPI
GO:0010997
P60484 (UniProtKB)
IPI
GO:0010997
P60484 (UniProtKB)
IPI
GO:0014067
P60484 (UniProtKB)
TAS
GO:0016314
P60484 (UniProtKB)
IDA
GO:0016314
P60484 (UniProtKB)
IDA
GO:0016314
P60484 (UniProtKB)
TAS
GO:0016314
P60484 (UniProtKB)
TAS
GO:0016314
P60484 (UniProtKB)
TAS
GO:0016324
P60484 (UniProtKB)
IMP
GO:0016477
P60484 (UniProtKB)
ISS
GO:0016605
P60484 (UniProtKB)
IEA
GO:0019899
P60484 (UniProtKB)
IPI
GO:0019901
P60484 (UniProtKB)
IEA
GO:0021542
P60484 (UniProtKB)
ISS
GO:0021955
P60484 (UniProtKB)
ISS
GO:0030165
P60484 (UniProtKB)
IPI
GO:0030165
P60484 (UniProtKB)
IPI
GO:0030165
P60484 (UniProtKB)
IPI
GO:0030336
P60484 (UniProtKB)
IMP
GO:0030336
P60484 (UniProtKB)
IMP
GO:0030534
P60484 (UniProtKB)
IEA
GO:0031642
P60484 (UniProtKB)
IEA
GO:0031647
P60484 (UniProtKB)
IMP
GO:0031658
P60484 (UniProtKB)
IDA
GO:0032228
P60484 (UniProtKB)
IEA
GO:0032286
P60484 (UniProtKB)
ISS
GO:0032355
P60484 (UniProtKB)
IEA
GO:0032535
P60484 (UniProtKB)
ISS
GO:0033032
P60484 (UniProtKB)
IEA
GO:0033198
P60484 (UniProtKB)
IEA
GO:0033555
P60484 (UniProtKB)
ISS
GO:0035176
P60484 (UniProtKB)
ISS
GO:0035335
P60484 (UniProtKB)
IEA
GO:0035749
P60484 (UniProtKB)
ISS
GO:0042493
P60484 (UniProtKB)
IEA
GO:0042711
P60484 (UniProtKB)
IEA
GO:0042802
P60484 (UniProtKB)
IPI
GO:0042995
P60484 (UniProtKB)
IDA
GO:0042995
P60484 (UniProtKB)
IDA
GO:0043005
P60484 (UniProtKB)
ISS
GO:0043066
P60484 (UniProtKB)
IEA
GO:0043197
P60484 (UniProtKB)
IEA
GO:0043220
P60484 (UniProtKB)
ISS
GO:0043491
P60484 (UniProtKB)
ISS
GO:0043491
P60484 (UniProtKB)
ISS
GO:0043542
P60484 (UniProtKB)
IEA
GO:0043647
P60484 (UniProtKB)
TAS
GO:0045211
P60484 (UniProtKB)
IEA
GO:0045471
P60484 (UniProtKB)
IEA
GO:0045475
P60484 (UniProtKB)
ISS
GO:0045792
P60484 (UniProtKB)
ISS
GO:0046621
P60484 (UniProtKB)
ISS
GO:0046685
P60484 (UniProtKB)
IEA
GO:0046855
P60484 (UniProtKB)
IDA
GO:0046856
P60484 (UniProtKB)
IMP
GO:0046856
P60484 (UniProtKB)
IMP
GO:0046856
P60484 (UniProtKB)
IDA
GO:0046856
P60484 (UniProtKB)
IDA
GO:0048008
P60484 (UniProtKB)
IEA
GO:0048015
P60484 (UniProtKB)
TAS
GO:0048679
P60484 (UniProtKB)
IEA
GO:0048738
P60484 (UniProtKB)
IEA
GO:0048853
P60484 (UniProtKB)
ISS
GO:0048854
P60484 (UniProtKB)
ISS
GO:0050680
P60484 (UniProtKB)
IEA
GO:0050765
P60484 (UniProtKB)
IEA
GO:0050771
P60484 (UniProtKB)
ISS
GO:0050821
P60484 (UniProtKB)
IDA
GO:0050852
P60484 (UniProtKB)
TAS
GO:0051091
P60484 (UniProtKB)
IMP
GO:0051717
P60484 (UniProtKB)
IDA
GO:0051717
P60484 (UniProtKB)
TAS
GO:0051800
P60484 (UniProtKB)
IDA
GO:0051800
P60484 (UniProtKB)
TAS
GO:0051895
P60484 (UniProtKB)
IMP
GO:0051898
P60484 (UniProtKB)
IMP
GO:0051898
P60484 (UniProtKB)
IMP
GO:0060024
P60484 (UniProtKB)
ISS
GO:0060070
P60484 (UniProtKB)
IDA
GO:0060074
P60484 (UniProtKB)
ISS
GO:0060134
P60484 (UniProtKB)
ISS
GO:0060179
P60484 (UniProtKB)
IEA
GO:0060291
P60484 (UniProtKB)
IEA
GO:0060292
P60484 (UniProtKB)
IEA
GO:0060736
P60484 (UniProtKB)
IEA
GO:0060997
P60484 (UniProtKB)
ISS
GO:0061002
P60484 (UniProtKB)
ISS
GO:0070373
P60484 (UniProtKB)
IMP
GO:0070374
P60484 (UniProtKB)
IEA
GO:0071456
P60484 (UniProtKB)
IEA
GO:0090071
P60484 (UniProtKB)
IEA
GO:0090344
P60484 (UniProtKB)
IEA
GO:0090394
P60484 (UniProtKB)
ISS
GO:0097105
P60484 (UniProtKB)
ISS
GO:0097107
P60484 (UniProtKB)
ISS
GO:1903984
P60484 (UniProtKB)
IMP
GO:1904668
P60484 (UniProtKB)
IDA
GO:2000060
P60484 (UniProtKB)
IDA
GO:2000134
P60484 (UniProtKB)
IDA
GO:2000463
P60484 (UniProtKB)
ISS
GO:2000808
P60484 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 PTEN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
MACROCEPHALY/AUTISM SYNDROME 0.56 1 9 CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Hamartoma Syndrome, Multiple 0.521446 208 1 BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Squamous cell carcinoma of the head and neck 0.482985861 12 1 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Bannayan-Riley-Ruvalcaba Syndrome 0.454386419 54 8 BeFree_CLINVAR_MGD_ORPHANET_UNIPROT
Endometrial Carcinoma 0.358197359 133 2 BeFree_CLINVAR_GAD_MGD_UNIPROT
melanoma 0.272069867 80 5 BeFree_CLINVAR_CTD_human_LHGDN
Malignant neoplasm of prostate 0.263876054 185 0 BeFree_GAD_MGD_UNIPROT
Meningioma 0.245819831 7 1 BeFree_CLINVAR_CTD_human_GAD
Proteus Syndrome 0.245167327 12 0 BeFree_CTD_human_LHGDN_ORPHANET
Lhermitte-Duclos disease 0.243257302 12 3 BeFree_CLINVAR_ORPHANET

基因相关服务

基因相关服务

联系方式

山东省济南市 高新区 崇华路359号 三庆世纪财富中心C1115室

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2