MSH6 (mutS homolog 6)

Gene Basic Information

Gene Basic Information

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

Chromosome Location

Chromosome Location

2p16.3

Gene Summary

Gene Summary

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。

ChineseEnglish

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]

OMIM entry for MSH6     Wikipedia entry for MSH6

Gene Sequence

Gene Sequence

Nucleotide sequence of MSH6:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MSRQSTLYSF FPKSPALSDA NKASARASRE GGRAAAAPGA
41SPSPGGDAAW SEAGPGPRPL ARSASPPKAK NLNGGLRRSV
81 APAAPTSCD FSPGDLVWAK MEGYPWWPCL VYNHPFDGTF
121IREKGKSVRV HVQFFDDSPT RGWVSKRLLK PYTGSKSKEA
161Q KGGHFYSA KPEILRAMQR ADEALNKDKI KRLELAVCDE
201PSEPEEEEEM EVGTTYVTDK SEEDNEIESE EEVQPKTQGS
241RR SSRQIKK RRVISDSESD IGGSDVEFKP DTKEEGSSDE
281ISSGVGDSES EGLNSPVKVA RKRKRMVTGN GSLKRKSSRK
321ETP SATKQA TSISSETKNT LRAFSAPQNS ESQAHVSGGG
361DDSSRPTVWY HETLEWLKEE KRRDEHRRRP DHPDFDASTL
401YVPE DFLNS CTPGMRKWWQ IKSQNFDLVI CYKVGKFYEL
441YHMDALIGVS ELGLVFMKGN WAHSGFPEIA FGRYSDSLVQ
481KGYKV ARVE QTETPEMMEA RCRKMAHISK YDRVVRREIC
521RIITKGTQTY SVLEGDPSEN YSKYLLSLKE KEEDSSGHTR
561AYGVCF VDT SLGKFFIGQF SDDRHCSRFR TLVAHYPPVQ
601VLFEKGNLSK ETKTILKSSL SCSLQEGLIP GSQFWDASKT
641LRTLLEE EY FREKLSDGIG VMLPQVLKGM TSESDSIGLT
681PGEKSELALS ALGGCVFYLK KCLIDQELLS MANFEEYIPL
721DSDTVSTT R SGAIFTKAYQ RMVLDAVTLN NLEIFLNGTN
761GSTEGTLLER VDTCHTPFGK RLLKQWLCAP LCNHYAINDR
801LDAIEDLMV VPDKISEVVE LLKKLPDLER LLSKIHNVGS
841PLKSQNHPDS RAIMYEETTY SKKKIIDFLS ALEGFKVMCK
881IIGIMEEVAD GFKSKILKQ VISLQTKNPE GRFPDLTVEL
921NRWDTAFDHE KARKTGLITP KAGFDSDYDQ ALADIRENEQ
961SLLEYLEKQR N RIGCRTIV YWGIGRNRYQ LEIPENFTTR
1001NLPEEYELKS TKKGCKRYWT KTIEKKLANL INAEERRDVS
1041LKDCMRRLFY NF DKNYKDW QSAVECIAVL DVLLCLANYS
1081RGGDGPMCRP VILLPEDTPP FLELKGSRHP CITKTFFGDD
1121FIPNDILIGC EEE EQENGK AYCVLVTGPN MGGKSTLMRQ
1161AGLLAVMAQM GCYVPAEVCR LTPIDRVFTR LGASDRIMSG
1201ESTFFVELSE TASI LMHAT AHSLVLVDEL GRGTATFDGT
1241AIANAVVKEL AETIKCRTLF STHYHSLVED YSQNVAVRLG
1281HMACMVENEC EDPSQ ETIT FLYKFIKGAC PKSYGFNAAR
1321LANLPEEVIQ KGHRKAREFE KMNQSLRLFR EVCLASERST
1361VDAEAVHKLL TLIKEL
结构预测来自 AlphaFold DB（UniProt: P52701），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of MSH6:           Showing partial SNPs
rs2020906       rs2229018       rs3136369       rs3136370       rs34530700       rs34625968       rs41295278       rs55740729       rs56238300       rs63750836       rs139825189       rs140531362       rs141464646       rs143331529       rs143369107       rs144714869       rs148353208      

Gene Expression

Gene Expression

Tissue expression of MSH6:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
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

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
SP3
MSH6
Activation
14585961

Gene Ontology

Subcellular localization of MSH6 (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 MSH6:

GO ID
Protein
Source DB
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

Related microRNA

Related microRNA

microRNAs potentially regulating MSH6:     

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
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

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