MSH6 (mutS homolog 6)

基因基本信息

基因基本信息

symbol:
MSH6
locus group:
protein-coding gene
location:
2p16.3
gene_family:
alias symbol:
MSH-6
alias name:
None
entrez id:
2956
ensembl gene id:
ENSG00000116062
ucsc gene id:
uc002rwd.5
refseq accession:
NM_000179
hgnc_id:
HGNC:7329
approved reserved:
1995-08-29

基因染色体位置

基因染色体位置

2p16.3
基因染色体位置图

基因简述

基因简述

MSH6（MutS homolog 6）是DNA错配修复（MMR）系统中的一个关键基因，属于MutS基因家族。该家族成员在维持基因组稳定性中起重要作用，通过识别和修复DNA复制过程中产生的碱基错配或小片段插入/缺失错误。MSH6与MSH2蛋白形成异源二聚体MutSα复合物，主要负责识别单碱基错配和短插入缺失环。MSH6基因突变会导致错配修复功能缺陷，造成微卫星不稳定性（MSI），这是林奇综合征（遗传性非息肉病性结直肠癌）的主要致病机制之一。携带MSH6突变的患者患结直肠癌、子宫内膜癌等恶性肿瘤的风险显著增加。MSH6表达降低会导致细胞无法有效修复DNA复制错误，积累突变并可能引发癌症；而MSH6过表达在某些情况下可能增强基因组稳定性，但也可能干扰正常细胞周期。MSH6突变表型通常比其他MMR基因（如MLH1或MSH2）突变温和，发病年龄较晚。该基因位于人类染色体2p16.3，包含10个外显子。除癌症外，MSH6变异还与儿童期血液系统恶性肿瘤和某些神经发育障碍相关。MutS基因家族的共同特点是都含有保守的ATP酶结构域和错配结合域，能够识别特定类型的DNA错配。临床上常通过免疫组化检测MSH6蛋白表达或基因测序来诊断林奇综合征。

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

该基因编码的DNA错配修复mutS的家庭中的一员。在大肠杆菌中，mutS的蛋白质及其修理之前有助于识别错配的核苷酸。约150个氨基酸的高度保守的区域，称为沃克-A腺嘌呤核苷酸结合母题，存在于mutS的同系物。与MSH2编码的蛋白质杂二，形成用作双向分子开关，交流ADP和ATP的DNA不匹配的约束和分离不匹配识别复杂。在这个基因的突变可能与遗传性非息肉性结肠癌，结肠直肠癌，子宫内膜癌有关。成绩单变种编码不同同种型有效值已经描述。 [由RefSeq的，2013年7月提供]

OMIM数据库中对MSH6基因的介绍     Wikipedia数据库中对MSH6基因的介绍

基因序列

基因序列

MSH6基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MSH6基因的碱基突变：           仅显示部分snp
rs2020906       rs2229018       rs3136369       rs3136370       rs34530700       rs34625968       rs41295278       rs55740729       rs56238300       rs63750836       rs139825189       rs140531362       rs141464646       rs143331529       rs143369107       rs144714869       rs148353208      

基因表达

基因表达

MSH6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
CTTATGAGACAGGCTGGCT
59
TCTATCAATTGGTGTGAGCCT
59
GGATTACAGTTGTGACTTCTCAC
60
GTAAACCAGACAAGGCCAC
59
CTTATGAGACAGGCTGGCT
59
TCTATCAATTGGTGTGAGCCT
59
TCTGCTCCAAGATTCAGGG
59
ACAGGGTGTTTAAGTCCAGAG
59
TCCTCTGGACTTAAACACCC
59
GTAAACCAGACAAGGCCAC
58
CATAGCTCACAATGGCCTC
58
GGAGGAGTTTCTGTAATCCC
57
CAGTCCGTGTTCATGTACAG
59
CGTAAGTTGTGCCTACCTG
58
TCAAAGGAAGCCCAGAAGG
60
ACGTAAGTTGTGCCTACCTC
60
TTAAGAGGCTTGAATTGGCA
58
CGTAAGTTGTGCCTACCTC
58
GAGAGTTTCGCTCAAGTCC
58
TGTAATCCCGACTACTCGG
58

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）
SP3
MSH6
Activation
14585961

基因本体信息

MSH6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

MSH6基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005524
A0A087WWJ1 (UniProtKB)
IEA
GO:0006298
A0A087WWJ1 (UniProtKB)
IEA
GO:0030983
A0A087WWJ1 (UniProtKB)
IEA
GO:0005524
A0A087WYT6 (UniProtKB)
IEA
GO:0006298
A0A087WYT6 (UniProtKB)
IEA
GO:0030983
A0A087WYT6 (UniProtKB)
IEA
GO:0000228
P52701 (UniProtKB)
IBA
GO:0000710
P52701 (UniProtKB)
ISS
GO:0000710
P52701 (UniProtKB)
IBA
GO:0000790
P52701 (UniProtKB)
IEA
GO:0003682
P52701 (UniProtKB)
IEA
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005654
P52701 (UniProtKB)
IDA
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005654
P52701 (UniProtKB)
TAS
GO:0005737
P52701 (UniProtKB)
IDA
GO:0005794
P52701 (UniProtKB)
IDA
GO:0005886
P52701 (UniProtKB)
IDA
GO:0006281
P52701 (UniProtKB)
IDA
GO:0006298
P52701 (UniProtKB)
IDA
GO:0006298
P52701 (UniProtKB)
IGI
GO:0006298
P52701 (UniProtKB)
IGI
GO:0006298
P52701 (UniProtKB)
IDA
GO:0006298
P52701 (UniProtKB)
IMP
GO:0006298
P52701 (UniProtKB)
TAS
GO:0007131
P52701 (UniProtKB)
IBA
GO:0008340
P52701 (UniProtKB)
ISS
GO:0008630
P52701 (UniProtKB)
ISS
GO:0009411
P52701 (UniProtKB)
ISS
GO:0009411
P52701 (UniProtKB)
IBA
GO:0016032
P52701 (UniProtKB)
IEA
GO:0016446
P52701 (UniProtKB)
ISS
GO:0016447
P52701 (UniProtKB)
ISS
GO:0030983
P52701 (UniProtKB)
IDA
GO:0032301
P52701 (UniProtKB)
IDA
GO:0032301
P52701 (UniProtKB)
IDA
GO:0035064
P52701 (UniProtKB)
IDA
GO:0043231
P52701 (UniProtKB)
IDA
GO:0045190
P52701 (UniProtKB)
ISS
GO:0045830
P52701 (UniProtKB)
IEA
GO:0045910
P52701 (UniProtKB)
IDA
GO:0051096
P52701 (UniProtKB)
IDA
GO:0097193
P52701 (UniProtKB)
ISS
GO:0042803
P52701 (UniProtKB)
IPI
GO:0043570
P52701 (UniProtKB)
IMP
GO:0000287
P52701 (UniProtKB)
IDA
GO:0000400
P52701 (UniProtKB)
IDA
GO:0003690
P52701 (UniProtKB)
IDA
GO:0005515
P52701 (UniProtKB)
IPI
GO:0005524
P52701 (UniProtKB)
IDA
GO:0016887
P52701 (UniProtKB)
IDA
GO:0030983
P52701 (UniProtKB)
IDA
GO:0030983
P52701 (UniProtKB)
IDA
GO:0030983
P52701 (UniProtKB)
IDA
GO:0032137
P52701 (UniProtKB)
IDA
GO:0032137
P52701 (UniProtKB)
IDA
GO:0032142
P52701 (UniProtKB)
IDA
GO:0032143
P52701 (UniProtKB)
IDA
GO:0032357
P52701 (UniProtKB)
IDA
GO:0032357
P52701 (UniProtKB)
IDA
GO:0032405
P52701 (UniProtKB)
IDA
GO:0043531
P52701 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 MSH6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
Turcot syndrome (disorder) 0.363800186 14 2 BeFree_CLINVAR_CTD_human_ORPHANET
Hereditary Nonpolyposis Colorectal Cancer 0.277111592 129 177 BeFree_CLINVAR_GAD_ORPHANET
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 0.24 3 11 CLINVAR_UNIPROT
Hereditary Nonpolyposis Colorectal Neoplasms 0.152200689 18 0 CTD_human_GAD_LHGDN
Endometrial Carcinoma 0.143040222 52 4 BeFree_CLINVAR_GAD
Endometrial Neoplasms 0.134916828 7 0 CTD_human_GAD_LHGDN
Microsatellite Instability 0.124734064 3 0 CTD_human_GAD
Torre-Muir syndrome 0.121628651 6 0 BeFree_ORPHANET
Neoplastic Syndromes, Hereditary 0.120542884 2 86 BeFree_CLINVAR
Colorectal cancer, hereditary nonpolyposis, type 1 0.120271442 1 4 BeFree_CLINVAR

基因相关服务

基因相关服务

联系方式

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