CDK4 (cyclin dependent kinase 4)

基因基本信息

基因基本信息

symbol:
CDK4
locus group:
protein-coding gene
location:
12q14.1
gene_family:
Cyclin-dependent kinases
alias symbol:
PSK-J3
alias name:
None
entrez id:
1019
ensembl gene id:
ENSG00000135446
ucsc gene id:
uc001spv.4
refseq accession:
NM_000075
hgnc_id:
HGNC:1773
approved reserved:
1993-07-28

基因染色体位置

基因染色体位置

12q14.1
基因染色体位置图

基因简述

基因简述

CDK4（细胞周期蛋白依赖性激酶4）属于细胞周期蛋白依赖性激酶（CDK）家族，该家族成员在调控细胞周期进程中起核心作用。CDK4与细胞周期蛋白D（Cyclin D）结合形成复合物，促进细胞从G1期进入S期，主要通过磷酸化视网膜母细胞瘤蛋白（Rb）使其失活，释放转录因子E2F，从而激活DNA复制相关基因的表达。CDK4的功能异常与多种疾病相关，尤其是癌症。例如，CDK4基因的扩增或突变可导致其过度激活，使细胞周期失控，促进肿瘤发生。在黑色素瘤、乳腺癌和胶质母细胞瘤中常见CDK4过表达或Cyclin D-CDK4通路异常。CDK4的某些突变（如R24C）会使其对抑制蛋白p16INK4a不敏感，导致持续激活。相反，CDK4表达降低或功能缺失可能导致细胞周期停滞，影响组织再生或发育。CDK家族成员（如CDK1、CDK2、CDK6等）均依赖与细胞周期蛋白结合发挥作用，但各自在细胞周期不同阶段起特异性调控作用。针对CDK4的抑制剂（如帕博西尼）已用于癌症治疗，通过阻断Rb磷酸化抑制肿瘤细胞增殖。此外，CDK4还与代谢调控、衰老等过程相关，其表达水平变化可能影响其他基因（如p21、p27）的活性或信号通路（如PI3K/AKT）的交叉调控。

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是丝氨酸/苏氨酸蛋白激酶家族的一个成员。该蛋白质是高度相似酿酒酵母CDC28和粟酒裂殖酵母CDC2的基因产物。它是蛋白激酶复合物是细胞周期G1期的进展重要的催化亚基。这种激酶的活性仅限于G1-S期，这是由该调节亚基D型细胞周期蛋白和CDK抑制剂p16基因（的INK4a）控制。这种激酶被证明是负责视网膜细胞瘤基因产物（RB）的磷酸化。均发现该基因，以及在其相关的蛋白质，包括D型细胞周期蛋白，p16基因（INK4A）和Rb突变与多种癌症的肿瘤发生有关。已经报道了这个基因的多聚腺苷酸化位点。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CDK4基因的介绍     Wikipedia数据库中对CDK4基因的介绍

基因序列

基因序列

CDK4基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CDK4基因的碱基突变：           仅显示部分snp
rs3472       rs3473       rs184712       rs238532       rs1048066       rs2069500       rs2069501       rs2069502       rs2069503       rs2069506       rs2069507       rs2069508       rs2069509       rs2069510       rs2069511       rs2072052       rs2227953      

基因表达

基因表达

CDK4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
ATGTAGACCAGGACCTAAGG
58
GCATCAGATCCTTGATCGT
57
ATGTAGACCAGGACCTAAGG
58
GCATCAGATCCTTGATCGT
57
CCTCGAGATGTATCCCTGC
59
AAGTCAGCATTTCCAGCAG
59
GTGACAAGTGGTGGAACAG
59
AGAGTGTAACAACCACGGG
60
GTGACAAGTGGTGGAACAG
59
AGAGTGTAACAACCACGGG
60
ATGTAGACCAGGACCTAAGG
58
GCATCAGATCCTTGATCGT
57
CCTCGAGATGTATCCCTGC
59
AAGTCAGCATTTCCAGCAG
59
GTGACAAGTGGTGGAACAG
59
AGAGTGTAACAACCACGGG
60
TTTGAGCATCCCAATGTTGTC
60
CGACGAAACATCTCTTGATCTC
59
GTGACAAGTGGTGGAACAG
59
AGAGTGTAACAACCACGGG
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）
ESR1
CDK4
Unknown
22179484
IRF1
CDK4
Repression
22200613
MYC
CDK4
Activation
22395148
MYC
CDK4
Unknown
10688915; 21384303
NFKB1
CDK4
Activation
18425349
NR3C1
CDK4
Repression
9154817
RELA
CDK4
Activation
18425349
SATB1
CDK4
Activation
22583549
SOX6
CDK4
Repression
21084391
SOX9
CDK4
Activation
20651055

基因本体信息

CDK4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

CDK4基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004674
F8VTV8 (UniProtKB)
IEA
GO:0005524
F8VTV8 (UniProtKB)
IEA
GO:0006468
F8VTV8 (UniProtKB)
IEA
GO:0004674
F8VWX7 (UniProtKB)
IEA
GO:0005524
F8VWX7 (UniProtKB)
IEA
GO:0006468
F8VWX7 (UniProtKB)
IEA
GO:0004672
F8VXD2 (UniProtKB)
IEA
GO:0005524
F8VXD2 (UniProtKB)
IEA
GO:0006468
F8VXD2 (UniProtKB)
IEA
GO:0004674
F8VYH9 (UniProtKB)
IEA
GO:0005524
F8VYH9 (UniProtKB)
IEA
GO:0006468
F8VYH9 (UniProtKB)
IEA
GO:0004672
F8VYY1 (UniProtKB)
IEA
GO:0005524
F8VYY1 (UniProtKB)
IEA
GO:0006468
F8VYY1 (UniProtKB)
IEA
GO:0004672
F8VZ51 (UniProtKB)
IEA
GO:0005524
F8VZ51 (UniProtKB)
IEA
GO:0006468
F8VZ51 (UniProtKB)
IEA
GO:0004672
F8VZZ0 (UniProtKB)
IEA
GO:0005524
F8VZZ0 (UniProtKB)
IEA
GO:0006468
F8VZZ0 (UniProtKB)
IEA
GO:0004672
F8W1L8 (UniProtKB)
IEA
GO:0005524
F8W1L8 (UniProtKB)
IEA
GO:0006468
F8W1L8 (UniProtKB)
IEA
GO:0000082
P11802 (UniProtKB)
IMP
GO:0000307
P11802 (UniProtKB)
IDA
GO:0000307
P11802 (UniProtKB)
IDA
GO:0000785
P11802 (UniProtKB)
IDA
GO:0002088
P11802 (UniProtKB)
IEA
GO:0004693
P11802 (UniProtKB)
IDA
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005515
P11802 (UniProtKB)
IPI
GO:0005524
P11802 (UniProtKB)
IEA
GO:0005634
P11802 (UniProtKB)
IDA
GO:0005634
P11802 (UniProtKB)
IDA
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005654
P11802 (UniProtKB)
TAS
GO:0005667
P11802 (UniProtKB)
IEA
GO:0005730
P11802 (UniProtKB)
IDA
GO:0005829
P11802 (UniProtKB)
IDA
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005829
P11802 (UniProtKB)
TAS
GO:0005923
P11802 (UniProtKB)
IEA
GO:0006468
P11802 (UniProtKB)
IDA
GO:0007165
P11802 (UniProtKB)
IEA
GO:0007623
P11802 (UniProtKB)
IEA
GO:0008284
P11802 (UniProtKB)
IMP
GO:0009636
P11802 (UniProtKB)
IEA
GO:0010288
P11802 (UniProtKB)
IEA
GO:0010468
P11802 (UniProtKB)
IMP
GO:0010971
P11802 (UniProtKB)
IDA
GO:0016538
P11802 (UniProtKB)
TAS
GO:0030332
P11802 (UniProtKB)
IPI
GO:0031100
P11802 (UniProtKB)
IEA
GO:0031965
P11802 (UniProtKB)
IDA
GO:0032403
P11802 (UniProtKB)
IEA
GO:0033574
P11802 (UniProtKB)
IEA
GO:0042493
P11802 (UniProtKB)
IGI
GO:0043065
P11802 (UniProtKB)
IEA
GO:0045727
P11802 (UniProtKB)
IEA
GO:0045787
P11802 (UniProtKB)
TAS
GO:0045793
P11802 (UniProtKB)
IEA
GO:0045859
P11802 (UniProtKB)
IEA
GO:0048146
P11802 (UniProtKB)
IMP
GO:0048471
P11802 (UniProtKB)
IEA
GO:0051301
P11802 (UniProtKB)
IEA
GO:0055093
P11802 (UniProtKB)
IEA
GO:0071157
P11802 (UniProtKB)
IDA
GO:0004672
Q96BE9 (UniProtKB)
IEA
GO:0005524
Q96BE9 (UniProtKB)
IEA
GO:0006468
Q96BE9 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CDK4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
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 0.36 3 2 CLINVAR_CTD_human_UNIPROT
Mammary Neoplasms, Experimental 0.2 3 0 CTD_human_RGD
Hereditary Melanoma 0.124885954 18 1 BeFree_CLINVAR
Liposarcoma, Dedifferentiated 0.12434307 16 0 BeFree_ORPHANET
liposarcoma 0.122985861 13 0 BeFree_CTD_human
Brain Neoplasms 0.122909916 4 0 BeFree_CTD_human_GAD
Animal Mammary Neoplasms 0.122367032 3 0 CTD_human_GAD
Liposarcoma, well differentiated 0.121357209 5 0 BeFree_ORPHANET
Stomach Neoplasms 0.12 1 0 CTD_human
Neoplastic Syndromes, Hereditary 0.12 0 1 CLINVAR

基因相关服务

基因相关服务

联系方式

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