MSH2 (mutS homolog 2)

Gene Basic Information

Gene Basic Information

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

Chromosome Location

Chromosome Location

2p21-p16.3

Gene Summary

Gene Summary

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。

ChineseEnglish

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]

OMIM entry for MSH2     Wikipedia entry for MSH2

Gene Sequence

Gene Sequence

Nucleotide sequence of MSH2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAVQPKETLQ LESAAEVGFV RFFQGMPEKP TTTVRLFDRG
41DFYTAHGEDA LLAAREVFKT QGVIKYMGPA GAKNLQSVVL
81 SKMNFESFV KDLLLVRQYR VEVYKNRAGN KASKENDWYL
121AYKASPGNLS QFEDILFGNN DMSASIGVVG VKMSAVDGQR
161Q VGVGYVDS IQRKLGLCEF PDNDQFSNLE ALLIQIGPKE
201CVLPGGETAG DMGKLRQIIQ RGGILITERK KADFSTKDIY
241QD LNRLLKG KKGEQMNSAV LPEMENQVAV SSLSAVIKFL
281ELLSDDSNFG QFELTTFDFS QYMKLDIAAV RALNLFQGSV
321EDT TGSQSL AALLNKCKTP QGQRLVNQWI KQPLMDKNRI
361EERLNLVEAF VEDAELRQTL QEDLLRRFPD LNRLAKKFQR
401QAAN LQDCY RLYQGINQLP NVIQALEKHE GKHQKLLLAV
441FVTPLTDLRS DFSKFQEMIE TTLDMDQVEN HEFLVKPSFD
481PNLSE LREI MNDLEKKMQS TLISAARDLG LDPGKQIKLD
521SSAQFGYYFR VTCKEEKVLR NNKNFSTVDI QKNGVKFTNS
561KLTSLN EEY TKNKTEYEEA QDAIVKEIVN ISSGYVEPMQ
601TLNDVLAQLD AVVSFAHVSN GAPVPYVRPA ILEKGQGRII
641LKASRHA CV EVQDEIAFIP NDVYFEKDKQ MFHIITGPNM
681GGKSTYIRQT GVIVLMAQIG CFVPCESAEV SIVDCILARV
721GAGDSQLK G VSTFMAEMLE TASILRSATK DSLIIIDELG
761RGTSTYDGFG LAWAISEYIA TKIGAFCMFA THFHELTALA
801NQIPTVNNL HVTALTTEET LTMLYQVKKG VCDQSFGIHV
841AELANFPKHV IECAKQKALE LEEFQYIGES QGYDIMEPAA
881KKCYLEREQG EKIIQEFLS KVKQMPFTEM SEENITIKLK
921QLKAEVIAKN NSFVNEIISR IKVTT
结构预测来自 AlphaFold DB（UniProt: P43246），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of MSH2:           Showing partial SNPs
rs9309147       rs9309148       rs11675417       rs11896864       rs12612893       rs12621761       rs34052789       rs34272868       rs35494461       rs57916992       rs58958853       rs60608771       rs66551248       rs75136829       rs76124862       rs77536220       rs79847238      

Gene Expression

Gene Expression

Tissue expression of MSH2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
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

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
DNMT1
MSH2
Activation
16473673
MBD2
MSH2
Unknown
15526354
NF1
MSH2
Unknown
19639020

Gene Ontology

Subcellular localization of MSH2 (and its protein):

[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
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for MSH2:

GO ID
Protein
Source DB
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

Related microRNA

Related microRNA

microRNAs potentially regulating MSH2:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
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

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