MSH5 (mutS homolog 5)

基因基本信息

基因基本信息

symbol:
MSH5
locus group:
protein-coding gene
location:
6p21.33
gene_family:
alias symbol:
G7
alias name:
None
entrez id:
4439
ensembl gene id:
ENSG00000204410
ucsc gene id:
uc003nww.3
refseq accession:
NM_002441
hgnc_id:
HGNC:7328
approved reserved:
1998-03-10

基因染色体位置

基因染色体位置

6p21.33
基因染色体位置图

基因简述

基因简述

MSH5（MutS homolog 5）属于DNA错配修复（MMR）基因家族，该家族在维持基因组稳定性中起关键作用，主要参与识别和修复DNA复制过程中产生的错配碱基。MSH5与MSH4形成异源二聚体，在减数分裂过程中发挥重要作用，特别是在同源染色体配对和交叉互换（重组）中。MSH5-MSH4复合物促进双链断裂修复，确保减数分裂的正常进行。若MSH5发生突变，可能导致减数分裂异常，引发不孕不育或增加非整倍体风险（如唐氏综合征）。此外，MSH5突变与某些癌症（如结直肠癌）的易感性相关，因其可能削弱DNA修复能力，导致突变积累。MSH5过表达可能干扰正常减数分裂或DNA修复平衡，而表达降低则可能导致基因组不稳定，增加肿瘤或生殖障碍风险。该基因家族（MutS家族）的共性包括：均含保守的ATP酶结构域，参与DNA损伤识别与修复，部分成员（如MSH2、MSH6）在体细胞错配修复中作用突出，而MSH4/MSH5主要在减数分裂中发挥作用。研究MSH5有助于理解不孕症、癌症及遗传性疾病的分子机制。

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

该基因编码的mutS的蛋白家族所涉及的DNA错配修复和减数分裂重组中的一员。这种蛋白质是相似的减数分裂期间参与偏析保真度和交叉区切换事件酿酒酵母蛋白质。这种蛋白质在促进电离辐射诱导的细胞凋亡的作用。这种蛋白质形成异低聚物这个家族的另一位成员，mutS的同源基因多态性4.该基因已被链接到各种人类疾病，包括IgA缺乏症，常见的变量免疫缺陷，和卵巢早衰。选择性剪接导致多个抄本变形。读通过转录也是这个基因和染色体的下游6开放阅读框26（C6orf26）基因之间存在。 [由RefSeq的，2011年2月提供]

OMIM数据库中对MSH5基因的介绍     Wikipedia数据库中对MSH5基因的介绍

基因序列

基因序列

MSH5基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MSH5基因的碱基突变：           仅显示部分snp
rs396369       rs396369       rs396369       rs396369       rs2736154       rs2736154       rs2736154       rs2736154       rs3101018       rs3101018       rs3101018       rs3101018       rs9281568       rs9281568       rs9281568       rs9281568       rs28381339      

基因表达

基因表达

MSH5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
CATCTACATCCCTCTGATTGG
57
TTAATCTCAAAGTCACTGGCC
58
CCAGAATGGCAGACATCCT
59
TTTGACCCTCCCTTTGTCC
59
TTGTTCAGCTACAACTGCTG
58
AAGTCTGAGACCTCCTTGC
59
GTTTCCTTACTGAGGTTGCC
58
AAGGAAGCCAATCAGAGGG
59
ATACTAGTGACTCCACTATCCA
57
TTGATCTCATCCAGAACTCTC
57
AAGACTATAATGTCAGCGTCC
57
TTGAGGATTCCTGTAAGTGTC
57
AATTGCCAGACATTAGTGGA
57
CGTTCAAGTCCAGGTTAGG
57
GACTATAATGTCAGCGTCCC
58
GTTGAGGATTCCTGTAAGTGTC
58
AATTGCCAGACATTAGTGGA
57
AAGTCCAGGTTAGGATCTTCC
59
TGTTCAGCTACAACTGCTG
58
AAGTCTGAGACCTCCTTGC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

MSH5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

MSH5基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005524
A0A024RCV8 (UniProtKB)
IEA
GO:0006298
A0A024RCV8 (UniProtKB)
IEA
GO:0030983
A0A024RCV8 (UniProtKB)
IEA
GO:0005524
A0A0G2JHB4 (UniProtKB)
IEA
GO:0006298
A0A0G2JHB4 (UniProtKB)
IEA
GO:0030983
A0A0G2JHB4 (UniProtKB)
IEA
GO:0005524
A0A0G2JIC1 (UniProtKB)
IEA
GO:0006298
A0A0G2JIC1 (UniProtKB)
IEA
GO:0030983
A0A0G2JIC1 (UniProtKB)
IEA
GO:0005524
A0A0G2JJ70 (UniProtKB)
IEA
GO:0006298
A0A0G2JJ70 (UniProtKB)
IEA
GO:0030983
A0A0G2JJ70 (UniProtKB)
IEA
GO:0005524
A0A0G2JK42 (UniProtKB)
IEA
GO:0006298
A0A0G2JK42 (UniProtKB)
IEA
GO:0030983
A0A0G2JK42 (UniProtKB)
IEA
GO:0005524
A0A0G2JK88 (UniProtKB)
IEA
GO:0006298
A0A0G2JK88 (UniProtKB)
IEA
GO:0030983
A0A0G2JK88 (UniProtKB)
IEA
GO:0005524
A0A140T927 (UniProtKB)
IEA
GO:0006298
A0A140T927 (UniProtKB)
IEA
GO:0030983
A0A140T927 (UniProtKB)
IEA
GO:0005524
A0A140T940 (UniProtKB)
IEA
GO:0006298
A0A140T940 (UniProtKB)
IEA
GO:0030983
A0A140T940 (UniProtKB)
IEA
GO:0005524
A0A140T967 (UniProtKB)
IEA
GO:0006298
A0A140T967 (UniProtKB)
IEA
GO:0030983
A0A140T967 (UniProtKB)
IEA
GO:0005524
A0A140T982 (UniProtKB)
IEA
GO:0006298
A0A140T982 (UniProtKB)
IEA
GO:0030983
A0A140T982 (UniProtKB)
IEA
GO:0005524
A0A140T9I9 (UniProtKB)
IEA
GO:0006298
A0A140T9I9 (UniProtKB)
IEA
GO:0030983
A0A140T9I9 (UniProtKB)
IEA
GO:0005524
A0A140T9J3 (UniProtKB)
IEA
GO:0006298
A0A140T9J3 (UniProtKB)
IEA
GO:0030983
A0A140T9J3 (UniProtKB)
IEA
GO:0005524
A0A140T9P6 (UniProtKB)
IEA
GO:0006298
A0A140T9P6 (UniProtKB)
IEA
GO:0030983
A0A140T9P6 (UniProtKB)
IEA
GO:0005524
A0A140T9W0 (UniProtKB)
IEA
GO:0006298
A0A140T9W0 (UniProtKB)
IEA
GO:0030983
A0A140T9W0 (UniProtKB)
IEA
GO:0005524
A2ABE9 (UniProtKB)
IEA
GO:0006298
A2ABE9 (UniProtKB)
IEA
GO:0030983
A2ABE9 (UniProtKB)
IEA
GO:0005524
A2ABF0 (UniProtKB)
IEA
GO:0006298
A2ABF0 (UniProtKB)
IEA
GO:0030983
A2ABF0 (UniProtKB)
IEA
GO:0005524
A2ABF1 (UniProtKB)
IEA
GO:0006298
A2ABF1 (UniProtKB)
IEA
GO:0030983
A2ABF1 (UniProtKB)
IEA
GO:0005524
H0YDS7 (UniProtKB)
IEA
GO:0006298
H0YDS7 (UniProtKB)
IEA
GO:0030983
H0YDS7 (UniProtKB)
IEA
GO:0005524
H7C2J4 (UniProtKB)
IEA
GO:0006298
H7C2J4 (UniProtKB)
IEA
GO:0030983
H7C2J4 (UniProtKB)
IEA
GO:0000795
O43196 (UniProtKB)
IBA
GO:0005515
O43196 (UniProtKB)
IPI
GO:0005515
O43196 (UniProtKB)
IPI
GO:0005515
O43196 (UniProtKB)
IPI
GO:0005515
O43196 (UniProtKB)
IPI
GO:0005515
O43196 (UniProtKB)
IPI
GO:0005524
O43196 (UniProtKB)
IEA
GO:0006298
O43196 (UniProtKB)
IBA
GO:0030983
O43196 (UniProtKB)
IBA
GO:0051026
O43196 (UniProtKB)
IBA
GO:0000710
O43196 (UniProtKB)
IBA
GO:0003684
O43196 (UniProtKB)
IBA
GO:0032300
O43196 (UniProtKB)
IBA

基因相关microRNA

基因相关microRNA

可能调控 MSH5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
Lupus Erythematosus, Systemic 0.130011012 5 1 BeFree_GAD_GWASCAT
Diabetes Mellitus, Insulin-Dependent 0.007372538 2 2 BeFree_GAD
Ovarian Failure, Premature 0.005362824 1 0 BeFree_GAD_LHGDN
Azoospermia 0.005276948 3 5 BeFree_GAD
Immunoglobulin A deficiency (disorder) 0.002909916 2 0 BeFree_GAD
Oligospermia 0.002909916 3 5 BeFree_GAD
Male infertility 0.002638474 1 2 BeFree_GAD
Rheumatoid Arthritis 0.002367032 1 0 GAD
Spontaneous abortion 0.002367032 1 0 GAD
Malignant neoplasm of lung 0.002367032 1 1 GAD

基因相关服务

基因相关服务

联系方式

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