MSH2 (mutS homolog 2)

基因基本信息

基因基本信息

symbol:
MSH2
locus group:
protein-coding gene
location:
2p21-p16.3
gene_family:
alias symbol:
HNPCC|HNPCC1|MSH-2
alias name:
DNA mismatch repair protein Msh2
entrez id:
4436
ensembl gene id:
ENSG00000095002
ucsc gene id:
uc002rvy.3
refseq accession:
NM_000251
hgnc_id:
HGNC:7325
approved reserved:
1993-07-28

基因染色体位置

基因染色体位置

2p21-p16.3
基因染色体位置图

基因简述

基因简述

MSH2（MutS homolog 2）是DNA错配修复（MMR）系统中的关键基因，属于MutS基因家族。该基因家族成员在进化上高度保守，主要功能是识别和修复DNA复制过程中产生的碱基错配或插入缺失错误，维持基因组稳定性。MSH2蛋白与MSH6或MSH3结合形成MutSα或MutSβ复合物，其中MutSα负责识别单碱基错配和小插入缺失，而MutSβ主要处理较大的插入缺失错误。MSH2基因突变会导致错配修复功能缺陷，造成微卫星不稳定（MSI），这是林奇综合征（遗传性非息肉病性结直肠癌）的主要病因。约40-50%的林奇综合征病例由MSH2突变引起，患者易患结直肠癌、子宫内膜癌等多种恶性肿瘤。MSH2突变还可能导致Turcot综合征和 Muir-Torre综合征。当MSH2表达降低时，细胞无法有效修复DNA复制错误，突变累积加速，促进肿瘤发生。过表达MSH2虽不直接致病，但可能干扰其他修复蛋白的平衡。MSH2还与化疗耐药相关，其缺失可能导致对某些化疗药物（如5-氟尿嘧啶）敏感性降低。该基因位于人类染色体2p21-p16区域，包含16个外显子。MutS家族成员均含有保守的ATP酶结构域和错配结合域，通过ATP依赖的方式启动修复过程。除MSH2外，家族还包括MSH3、MSH6等，它们在功能上既分工又协作，共同维护基因组完整性。检测MSH2突变和微卫星不稳定状态对林奇综合征筛查和肿瘤个体化治疗具有重要意义。

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

这个位点突变频率在遗传性非息肉结肠癌（HNPCC）。当克隆时，被发现是大肠杆菌错配修复基因mutS的的人同源物，与微卫星序列中HNPCC发现的特征的改变（RER +表型）相一致。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2012年4月提供]

OMIM数据库中对MSH2基因的介绍     Wikipedia数据库中对MSH2基因的介绍

基因序列

基因序列

MSH2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MSH2基因的碱基突变：           仅显示部分snp
rs9309147       rs9309148       rs11675417       rs11896864       rs12612893       rs12621761       rs34052789       rs34272868       rs35494461       rs57916992       rs58958853       rs60608771       rs66551248       rs75136829       rs76124862       rs77536220       rs79847238      

基因表达

基因表达

MSH2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
CAGTATATTGGAGAATCGCAAGG
60
TCTGTCACTCTGAGGTTCTC
59
ATGGAGAATCAGGTTGCAG
58
GTCCAAAGTTGGAATCATCTG
57
ATGGAGAATCAGGTTGCAG
58
GTCCAAAGTTGGAATCATCTG
57
ACAGTCAATTGAAAGGAGTCTC
58
AATCTTTGGTTGCAGACCTG
59
CAGTATATTGGAGAATCGCAAGG
60
TCTGTCACTCTGAGGTTCTC
59
CATATAAGGCTTCTCCTGGCA
60
CAACACCAATGGAAGCTGAC
60
GTTCTGTTGAAGATACCACTGG
59
TTAACAAGTTTGTCCTTGAGGG
59
GCCATGTCAAATGTTGCTG
58
AATGCCTATGCTGATGCAC
59
ATGGAGAATCAGGTTGCAG
58
GTCCAAAGTTGGAATCATCTG
57
ACAGTCAATTGAAAGGAGTCTC
58
AATCTTTGGTTGCAGACCTG
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）
DNMT1
MSH2
Activation
16473673
MBD2
MSH2
Unknown
15526354
NF1
MSH2
Unknown
19639020

基因本体信息

MSH2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

MSH2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005524
A0A087X078 (UniProtKB)
IEA
GO:0006298
A0A087X078 (UniProtKB)
IEA
GO:0030983
A0A087X078 (UniProtKB)
IEA
GO:0032300
A0A087X078 (UniProtKB)
IEA
GO:0005524
A0A087X1E7 (UniProtKB)
IEA
GO:0006298
A0A087X1E7 (UniProtKB)
IEA
GO:0030983
A0A087X1E7 (UniProtKB)
IEA
GO:0032300
A0A087X1E7 (UniProtKB)
IEA
GO:0005524
C9J809 (UniProtKB)
IEA
GO:0006298
C9J809 (UniProtKB)
IEA
GO:0030983
C9J809 (UniProtKB)
IEA
GO:0032300
C9J809 (UniProtKB)
IEA
GO:0005524
E9PHA6 (UniProtKB)
IEA
GO:0006298
E9PHA6 (UniProtKB)
IEA
GO:0030983
E9PHA6 (UniProtKB)
IEA
GO:0032300
E9PHA6 (UniProtKB)
IEA
GO:0000403
P43246 (UniProtKB)
IBA
GO:0000404
P43246 (UniProtKB)
IBA
GO:0000406
P43246 (UniProtKB)
IBA
GO:0000710
P43246 (UniProtKB)
IBA
GO:0000784
P43246 (UniProtKB)
IDA
GO:0001701
P43246 (UniProtKB)
IEA
GO:0003677
P43246 (UniProtKB)
IDA
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0005654
P43246 (UniProtKB)
TAS
GO:0006119
P43246 (UniProtKB)
IEA
GO:0006281
P43246 (UniProtKB)
IDA
GO:0006298
P43246 (UniProtKB)
IDA
GO:0006298
P43246 (UniProtKB)
IGI
GO:0006298
P43246 (UniProtKB)
IGI
GO:0006298
P43246 (UniProtKB)
IDA
GO:0006298
P43246 (UniProtKB)
TAS
GO:0006298
P43246 (UniProtKB)
TAS
GO:0006301
P43246 (UniProtKB)
IDA
GO:0006302
P43246 (UniProtKB)
IBA
GO:0006311
P43246 (UniProtKB)
IBA
GO:0007050
P43246 (UniProtKB)
IEA
GO:0007131
P43246 (UniProtKB)
IBA
GO:0007281
P43246 (UniProtKB)
IEA
GO:0008022
P43246 (UniProtKB)
IPI
GO:0008340
P43246 (UniProtKB)
IEA
GO:0008584
P43246 (UniProtKB)
ISS
GO:0010165
P43246 (UniProtKB)
ISS
GO:0010165
P43246 (UniProtKB)
IBA
GO:0010224
P43246 (UniProtKB)
ISS
GO:0010224
P43246 (UniProtKB)
IBA
GO:0016020
P43246 (UniProtKB)
IDA
GO:0016446
P43246 (UniProtKB)
IBA
GO:0016447
P43246 (UniProtKB)
ISS
GO:0019237
P43246 (UniProtKB)
IEA
GO:0019724
P43246 (UniProtKB)
ISS
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019899
P43246 (UniProtKB)
IPI
GO:0019901
P43246 (UniProtKB)
IPI
GO:0030183
P43246 (UniProtKB)
ISS
GO:0031573
P43246 (UniProtKB)
IBA
GO:0032137
P43246 (UniProtKB)
IMP
GO:0032301
P43246 (UniProtKB)
IDA
GO:0032301
P43246 (UniProtKB)
IDA
GO:0032302
P43246 (UniProtKB)
IDA
GO:0042771
P43246 (UniProtKB)
IBA
GO:0042803
P43246 (UniProtKB)
IDA
GO:0043524
P43246 (UniProtKB)
ISS
GO:0043570
P43246 (UniProtKB)
IMP
GO:0045128
P43246 (UniProtKB)
IBA
GO:0045190
P43246 (UniProtKB)
ISS
GO:0045190
P43246 (UniProtKB)
IBA
GO:0045910
P43246 (UniProtKB)
ISS
GO:0045910
P43246 (UniProtKB)
IDA
GO:0051096
P43246 (UniProtKB)
IDA
GO:0000287
P43246 (UniProtKB)
IDA
GO:0000400
P43246 (UniProtKB)
IDA
GO:0003690
P43246 (UniProtKB)
IDA
GO:0003697
P43246 (UniProtKB)
IDA
GO:0005515
P43246 (UniProtKB)
IPI
GO:0005524
P43246 (UniProtKB)
IDA
GO:0016887
P43246 (UniProtKB)
IDA
GO:0030983
P43246 (UniProtKB)
IDA
GO:0030983
P43246 (UniProtKB)
IDA
GO:0030983
P43246 (UniProtKB)
IDA
GO:0032137
P43246 (UniProtKB)
IDA
GO:0032137
P43246 (UniProtKB)
IDA
GO:0032139
P43246 (UniProtKB)
IDA
GO:0032142
P43246 (UniProtKB)
IDA
GO:0032143
P43246 (UniProtKB)
IDA
GO:0032181
P43246 (UniProtKB)
IDA
GO:0032357
P43246 (UniProtKB)
IDA
GO:0032357
P43246 (UniProtKB)
IDA
GO:0032405
P43246 (UniProtKB)
IDA
GO:0043531
P43246 (UniProtKB)
IDA
GO:0005524
V9H015 (UniProtKB)
IEA
GO:0006298
V9H015 (UniProtKB)
IEA
GO:0030983
V9H015 (UniProtKB)
IEA
GO:0032300
V9H015 (UniProtKB)
IEA
GO:0005524
V9H019 (UniProtKB)
IEA
GO:0006298
V9H019 (UniProtKB)
IEA
GO:0030983
V9H019 (UniProtKB)
IEA
GO:0032300
V9H019 (UniProtKB)
IEA
GO:0005524
V9H0B2 (UniProtKB)
IEA
GO:0006298
V9H0B2 (UniProtKB)
IEA
GO:0030983
V9H0B2 (UniProtKB)
IEA
GO:0032300
V9H0B2 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 MSH2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Torre-Muir syndrome 0.375220608 36 2 BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET
Turcot syndrome (disorder) 0.365157396 19 6 BeFree_CLINVAR_CTD_human_ORPHANET
Hereditary Nonpolyposis Colorectal Cancer 0.33183516 428 423 BeFree_CLINVAR_GAD_ORPHANET
Colorectal cancer, hereditary nonpolyposis, type 1 0.32 30 27 CLINVAR_MGD_UNIPROT
Hereditary Nonpolyposis Colorectal Neoplasms 0.244973608 54 0 CTD_human_GAD_LHGDN
Colorectal Neoplasms 0.201143185 41 0 BeFree_CTD_human_GAD_LHGDN
Colorectal Cancer 0.14378884 287 4 BeFree_GAD
Glioma 0.123181358 4 0 BeFree_CTD_human_GAD
Neoplastic Syndromes, Hereditary 0.121357209 5 58 BeFree_CLINVAR
Neurofibromatosis 1 0.121085767 4 0 BeFree_CTD_human

基因相关服务

基因相关服务

联系方式

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