CDKN2A (cyclin dependent kinase inhibitor 2A)

基因基本信息

基因基本信息

symbol:
CDKN2A
locus group:
protein-coding gene
location:
9p21.3
gene_family:
alias symbol:
CDK4I|p16|INK4a|MTS1|CMM2|ARF|p19|p14|INK4|p16INK4a|p19Arf|p14ARF|P16-INK4A
alias name:
None
entrez id:
1029
ensembl gene id:
ENSG00000147889
ucsc gene id:
uc003zpk.4
refseq accession:
NM_000077
hgnc_id:
HGNC:1787
approved reserved:
1994-05-19

基因染色体位置

基因染色体位置

9p21.3
基因染色体位置图

基因简述

基因简述

CDKN2A（Cyclin-Dependent Kinase Inhibitor 2A）是一个重要的抑癌基因，属于INK4（Inhibitor of CDK4）基因家族。该基因编码两种蛋白质：p16INK4a和p14ARF（在人类中为p16INK4a和p19ARF在小鼠中），它们通过不同的机制调控细胞周期和抑制肿瘤发生。p16INK4a通过抑制CDK4/6-cyclin D复合物来阻止Rb蛋白的磷酸化，从而阻断细胞从G1期进入S期，抑制细胞增殖。p14ARF则通过稳定p53蛋白来诱导细胞周期停滞或凋亡，从而防止异常细胞生长。CDKN2A基因的突变或缺失与多种癌症密切相关，包括黑色素瘤、胰腺癌、肺癌和头颈部肿瘤等。突变可能导致p16INK4a或p14ARF功能丧失，使细胞周期失控，促进肿瘤发展。CDKN2A的过表达通常与细胞衰老相关，可能作为抗肿瘤机制的一部分，而表达降低则可能导致细胞增殖失控和癌症风险增加。该基因家族（INK4）的共性是通过抑制CDK（细胞周期蛋白依赖性激酶）来调控细胞周期，成员还包括CDKN2B（p15INK4b）、CDKN2C（p18INK4c）和CDKN2D（p19INK4d）。CDKN2A的表达受表观遗传调控（如甲基化）和转录因子（如E2F）的影响。此外，CDKN2A的遗传变异（如某些SNPs）可能增加个体对特定癌症的易感性。研究CDKN2A有助于开发针对细胞周期调控的癌症治疗方法，例如CDK4/6抑制剂（如帕博西尼）已用于某些癌症治疗。

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

None

OMIM数据库中对CDKN2A基因的介绍     Wikipedia数据库中对CDKN2A基因的介绍

基因序列

基因序列

CDKN2A基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CDKN2A基因的碱基突变：           仅显示部分snp
rs11515       rs1800586       rs1801022       rs2518719       rs2518720       rs2518721       rs2518723       rs2811708       rs2811709       rs2811710       rs2811711       rs3088440       rs3731190       rs3731191       rs3731192       rs3731194       rs3731195      

基因表达

基因表达

CDKN2A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
ACCATTGAACCTGGACCTC
59
TCATCATGACTGACTTCTGAGG
60
GTCCCTCAGAAATGATCGGA
59
GCTTGCGATAACCAAAGGG
60
CCACCTCAGAAGTCAAGAC
58
CGTCTAAATTCTTGTTGGAGG
57
AAACTGGAAGCAAATGTAGGG
59
ATGGTTACTGCCTCTGGTG
59
GAAGGTCCCTCAGACATCC
59
AGTTTCCCGAGGTTTCTCAG
60
AATAGTTACGGTCGGAGGC
59
CTCTGGTTCTTTCAATCGGG
59
CGATGAAGTTACAGCTAGCA
58
CTCCTTCTAAATCGGGACC
57
GAAGGTCCCTCAGACATCC
59
TTTCCCGAGGTTTCTCAGAG
60
CTACACAAGCTTCCTTTCCG
59
AGAGAACAGAATGGTCAGAGC
60
AAGGTCCCTCAGTTACAGC
59
TAACTGGAGCCGAAGTCTC
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）
DDB1
CDKN2A
Unknown
19208841
DNMT1
CDKN2A
Repression
17934516
DNMT1
CDKN2A
Unknown
17490527
DNMT3A
CDKN2A
Unknown
17490527
E2F1
CDKN2A
Activation
11705881; 12695664; 12766778; 15716352; 22621932
EAPP
CDKN2A
Repression
15716352
ETS1
CDKN2A
Unknown
17370299
ETS2
CDKN2A
Unknown
17370299
EZH2
CDKN2A
Repression
23289480
FOXM1
CDKN2A
Repression
22461910

基因本体信息

CDKN2A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

CDKN2A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0006915
A0A0A0MRI0 (UniProtKB)
IEA
GO:0007050
A0A0A0MRI0 (UniProtKB)
IEA
GO:0008285
A0A0A0MRI0 (UniProtKB)
IEA
GO:0016301
G3XAG3 (UniProtKB)
IEA
GO:0016310
G3XAG3 (UniProtKB)
IEA
GO:0000082
P42771 (UniProtKB)
IDA
GO:0001953
P42771 (UniProtKB)
IMP
GO:0004861
P42771 (UniProtKB)
IDA
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005515
P42771 (UniProtKB)
IPI
GO:0005634
P42771 (UniProtKB)
IDA
GO:0005737
P42771 (UniProtKB)
IDA
GO:0005829
P42771 (UniProtKB)
TAS
GO:0005829
P42771 (UniProtKB)
TAS
GO:0007050
P42771 (UniProtKB)
IDA
GO:0007050
P42771 (UniProtKB)
IMP
GO:0007265
P42771 (UniProtKB)
IEP
GO:0008285
P42771 (UniProtKB)
IDA
GO:0008285
P42771 (UniProtKB)
IMP
GO:0008285
P42771 (UniProtKB)
IMP
GO:0008285
P42771 (UniProtKB)
IMP
GO:0019901
P42771 (UniProtKB)
IPI
GO:0030308
P42771 (UniProtKB)
IDA
GO:0032088
P42771 (UniProtKB)
IDA
GO:0034393
P42771 (UniProtKB)
ISS
GO:0035985
P42771 (UniProtKB)
IDA
GO:0035986
P42771 (UniProtKB)
IMP
GO:0042326
P42771 (UniProtKB)
IDA
GO:0042326
P42771 (UniProtKB)
IDA
GO:0044822
P42771 (UniProtKB)
IDA
GO:0045736
P42771 (UniProtKB)
IDA
GO:0045892
P42771 (UniProtKB)
IMP
GO:0051059
P42771 (UniProtKB)
IDA
GO:0090398
P42771 (UniProtKB)
IMP
GO:0090399
P42771 (UniProtKB)
IMP
GO:2000111
P42771 (UniProtKB)
ISS
GO:2000774
P42771 (UniProtKB)
IMP
GO:0000209
Q8N726 (UniProtKB)
IDA
GO:0000422
Q8N726 (UniProtKB)
IMP
GO:0002039
Q8N726 (UniProtKB)
IPI
GO:0003677
Q8N726 (UniProtKB)
IEA
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005515
Q8N726 (UniProtKB)
IPI
GO:0005634
Q8N726 (UniProtKB)
IDA
GO:0005634
Q8N726 (UniProtKB)
IDA
GO:0005654
Q8N726 (UniProtKB)
IDA
GO:0005654
Q8N726 (UniProtKB)
IDA
GO:0005654
Q8N726 (UniProtKB)
IDA
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005654
Q8N726 (UniProtKB)
TAS
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005730
Q8N726 (UniProtKB)
IDA
GO:0005739
Q8N726 (UniProtKB)
IEA
GO:0005739
Q8N726 (UniProtKB)
IMP
GO:0006351
Q8N726 (UniProtKB)
IEA
GO:0006364
Q8N726 (UniProtKB)
IEA
GO:0006469
Q8N726 (UniProtKB)
IMP
GO:0006919
Q8N726 (UniProtKB)
IMP
GO:0007050
Q8N726 (UniProtKB)
IMP
GO:0008134
Q8N726 (UniProtKB)
IPI
GO:0008285
Q8N726 (UniProtKB)
IDA
GO:0008637
Q8N726 (UniProtKB)
IMP
GO:0010389
Q8N726 (UniProtKB)
IMP
GO:0016925
Q8N726 (UniProtKB)
TAS
GO:0016925
Q8N726 (UniProtKB)
TAS
GO:0019789
Q8N726 (UniProtKB)
EXP
GO:0030889
Q8N726 (UniProtKB)
ISS
GO:0031647
Q8N726 (UniProtKB)
ISS
GO:0031648
Q8N726 (UniProtKB)
IDA
GO:0031648
Q8N726 (UniProtKB)
IDA
GO:0033088
Q8N726 (UniProtKB)
ISS
GO:0033235
Q8N726 (UniProtKB)
IMP
GO:0043065
Q8N726 (UniProtKB)
IMP
GO:0043234
Q8N726 (UniProtKB)
IDA
GO:0043517
Q8N726 (UniProtKB)
IDA
GO:0045893
Q8N726 (UniProtKB)
IDA
GO:0045944
Q8N726 (UniProtKB)
IDA
GO:0046825
Q8N726 (UniProtKB)
IMP
GO:0048103
Q8N726 (UniProtKB)
ISS
GO:0050821
Q8N726 (UniProtKB)
IDA
GO:0050821
Q8N726 (UniProtKB)
IDA
GO:0051444
Q8N726 (UniProtKB)
ISS
GO:0051882
Q8N726 (UniProtKB)
IMP
GO:0055105
Q8N726 (UniProtKB)
ISS
GO:0070534
Q8N726 (UniProtKB)
IDA
GO:0071158
Q8N726 (UniProtKB)
IDA
GO:0090398
Q8N726 (UniProtKB)
IMP
GO:0097371
Q8N726 (UniProtKB)
IPI
GO:0097371
Q8N726 (UniProtKB)
IPI
GO:1900182
Q8N726 (UniProtKB)
IDA
GO:1901798
Q8N726 (UniProtKB)
IDA
GO:1902510
Q8N726 (UniProtKB)
IMP
GO:1903051
Q8N726 (UniProtKB)
IMP
GO:1903214
Q8N726 (UniProtKB)
IMP
GO:2000059
Q8N726 (UniProtKB)
IDA
GO:0016604
Q8N726 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 CDKN2A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 astrocytoma syndrome 0.360542884 2 0 BeFree_CLINVAR_CTD_human_ORPHANET
melanoma 0.36 508 13 BeFree_CTD_human_GAD_LHGDN
MELANOMA-PANCREATIC CANCER SYNDROME 0.36 1 2 CLINVAR_CTD_human_UNIPROT
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.274751948 56 1 BeFree_CTD_human_GAD_GWASCAT_LHGDN
Liver carcinoma 0.251944713 95 0 BeFree_CTD_human_LHGDN_RGD
Lung Neoplasms 0.244655508 39 0 BeFree_CTD_human_LHGDN_RGD
MELANOMA, CUTANEOUS MALIGNANT, 2 0.24 10 1 CTD_human_UNIPROT
LI-FRAUMENI SYNDROME 1 0.24 1 0 CTD_human_UNIPROT
Esophageal Neoplasms 0.221898372 25 0 BeFree_CTD_human_GAD_LHGDN_RGD
Mesothelioma 0.219854983 38 0 BeFree_CTD_human_LHGDN_RGD

基因相关服务

基因相关服务

联系方式

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