mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for MSH6
Gene summary
Basic gene Info.Gene symbolMSH6
Gene namemutS homolog 6
SynonymsGTBP|GTMBP|HNPCC5|HSAP|p160
CytomapUCSC genome browser: 2p16
Type of geneprotein-coding
RefGenesNM_000179.2,
NM_001281492.1,NM_001281493.1,NM_001281494.1,
DescriptionDNA mismatch repair protein Msh6G/T mismatch-binding proteinmutS-alpha 160 kDa subunitsperm-associated protein
Modification date20141222
dbXrefs MIM : 600678
HGNC : HGNC
Ensembl : ENSG00000116062
HPRD : 07202
ProteinUniProt: P52701
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MSH6
BioGPS: 2956
PathwayNCI Pathway Interaction Database: MSH6
KEGG: MSH6
REACTOME: MSH6
Pathway Commons: MSH6
ContextiHOP: MSH6
ligand binding site mutation search in PubMed: MSH6
UCL Cancer Institute: MSH6
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006200ATP catabolic process16403449
GO:0006281DNA repair8942985
GO:0006298mismatch repair10871409
GO:0045910negative regulation of DNA recombination17715146
GO:0051096positive regulation of helicase activity17715146


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Ligand binding site mutations for MSH6
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Q485E484KGBM1
M452M452VGBM1
T1142T1142MLUAD1
V450V450ASTAD1
N975R976HUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for MSH6
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
M452M452V-1.4486596
N975R976H-1.2150729
V450V450A-1.0708827
Q485E484K-0.4770574
T1142T1142M-0.46779086
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for MSH6 from PDB

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Differential gene expression and gene-gene network for MSH6
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of MSH6 and the right PPI network was created from samples without mutations in the LBS of MSH6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MSH6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009405Colorectal Neoplasms, Hereditary Nonpolyposis17Biomarker, GeneticVariation
umls:C0265325Turcot syndrome12Biomarker, GeneticVariation
umls:C0014170Endometrial Neoplasms7Biomarker, GeneticVariation
umls:C1833477Colorectal Cancer, Hereditary Nonpolyposis, Type 53GeneticVariation
umls:C0152013Adenocarcinoma of lung1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0027672Neoplastic Syndromes, Hereditary1Biomarker, GeneticVariation
umls:C2936783Colorectal cancer, hereditary nonpolyposis, type 11Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
94796R976HUncertain significanceGermlineGeneReviews:NBK1211
MedGen:C1333990
SNOMED CT:315058005
94855T1142MUncertain significanceGermlineGeneReviews:NBK1211
MedGen:C1333990
SNOMED CT:315058005
MedGen:C0027672
SNOMED CT:699346009
212231E484KUncertain significanceGermlineGeneReviews:NBK1211
MedGen:C1333990
SNOMED CT:315058005

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Pharmacological information for MSH6
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MSH6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2o8bBQ485 N975
NUCNucleic Acids2o8cBQ485 N975
NUCNucleic Acids2o8dBQ485 N975
NUCNucleic Acids2o8eBQ485 N975
NUCNucleic Acids2o8fBQ485 N975
ADPADP2o8bBT1142
ADPADP2o8cBT1142
ADPADP2o8dBT1142
NUCNucleic Acids2o8bBV450 M452
NUCNucleic Acids2o8cBV450 M452
NUCNucleic Acids2o8dBV450 M452
NUCNucleic Acids2o8eBV450 M452
NUCNucleic Acids2o8fBV450 M452


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Conservation information for LBS of MSH6
Multiple alignments for P52701 in multiple species
LBSAA sequence# speciesSpecies
D1213SLVLVDELGRG2Homo sapiens, Mus musculus
D1213SLLVVDELGRG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D1213SLVILDELGRG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D1213SLVVLDELGRG1Arabidopsis thaliana
D1213SLVLLDELGRG1Drosophila melanogaster
E434VGKFYELYHMD3Homo sapiens, Drosophila melanogaster, Mus musculus
E434KGKFFELYEKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E434KGKFYELYEND1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E434MGKFYELFEMD1Arabidopsis thaliana
F1108FG-DDFIPNDI2Homo sapiens, Mus musculus
F1108TTAKDFIPNDI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F1108AS--TFVPNDV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1108LGRGSFVPNNV1Arabidopsis thaliana
F1108----TYIPNGL1Drosophila melanogaster
F432YKVGKFYELYH2Homo sapiens, Mus musculus
F432FKKGKFFELYE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F432FQKGKFYELYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F432FKMGKFYELFE1Arabidopsis thaliana
F432FKVGKFYELYH1Drosophila melanogaster
G1138TGPNMGGKSTL4Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Mus musculus
G1138TGANAAGKSTI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1138TGPNMAGKSTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1139GPNMGGKSTLM2Homo sapiens, Drosophila melanogaster
G1139GANAAGKSTIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1139GPNMAGKSTLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1139GPNMGGKSTLL1Arabidopsis thaliana
G1139GPNMGGKSTLI1Mus musculus
G409NSCTPGMRKWW2Homo sapiens, Mus musculus
G409NKFTPFEKQYW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G409ATFKPFEKQFW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G409KKLTGGQRQWW1Arabidopsis thaliana
G409NGLSPGVRQWW1Drosophila melanogaster
G430ICYKVGKFYEL1Homo sapiens
G430VFFKKGKFFEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G430VFFQKGKFYEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G430VFFKMGKFYEL1Arabidopsis thaliana
G430LFFKVGKFYEL1Drosophila melanogaster
G430IFYKVGKFYEL1Mus musculus
G460NWAHSGFPEIA2Homo sapiens, Mus musculus
G460NMQLAGIPEMS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G460NMKMVGIPEAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G460EQPHCGFPEKN1Arabidopsis thaliana
G460EFAHSGFPEIS1Drosophila melanogaster
I1109G-DDFIPNDIL2Homo sapiens, Mus musculus
I1109TAKDFIPNDIE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I1109S--TFVPNDVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I1109GRGSFVPNNVK1Arabidopsis thaliana
I1109---TYIPNGLE1Drosophila melanogaster
K1000ELKSTKKG---2Homo sapiens, Mus musculus
K1000VQMAANKT---1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K1000CKMSGTKK---1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K1000ELCSSKKG---1Arabidopsis thaliana
K1000TLEGQTKGKKP1Drosophila melanogaster
K1004G---CKRYWTK2Homo sapiens, Mus musculus
K1004T---YKRYYSD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K1004K---TNRYYND1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K1004G---VSRYWTP1Arabidopsis thaliana
K1004GKKPSRRYTTA1Drosophila melanogaster
K1140PNMGGKSTLMR2Homo sapiens, Drosophila melanogaster
K1140ANAAGKSTILR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K1140PNMAGKSTLLR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K1140PNMGGKSTLLR1Arabidopsis thaliana
K1140PNMGGKSTLIR1Mus musculus
K431CYKVGKFYELY1Homo sapiens
K431FFKKGKFFELY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K431FFQKGKFYELY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K431FFKMGKFYELF1Arabidopsis thaliana
K431FFKVGKFYELY1Drosophila melanogaster
K431FYKVGKFYELY1Mus musculus
K453FM---KGNWAH2Homo sapiens, Mus musculus
K453IAGGGRANMQL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K453LT--DRVNMKM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K453YM---KGEQPH1Arabidopsis thaliana
K453YM---RGEFAH1Drosophila melanogaster
K997EEYELKSTKKG2Homo sapiens, Mus musculus
K997SNWVQMAANKT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K997VNWCKMSGTKK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K997HDYELCSSKKG1Arabidopsis thaliana
K997KSYTLEGQTKG1Drosophila melanogaster
L449VSELGLVFM--1Homo sapiens
L449NALFDLKIAGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L449HQVFSLKLT--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L449AKELDIQYM--1Arabidopsis thaliana
L449VNELGFTYM--1Drosophila melanogaster
L449VSELGLIFM--1Mus musculus
M1137VTGPNMGGKST2Homo sapiens, Mus musculus
M1137LTGPNMGGKST2Arabidopsis thaliana, Drosophila melanogaster
M1137LTGANAAGKST1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M1137LTGPNMAGKST1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M410SCTPGMRKWWQ2Homo sapiens, Mus musculus
M410KFTPFEKQYWE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M410TFKPFEKQFWK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M410KLTGGQRQWWE1Arabidopsis thaliana
M410GLSPGVRQWWV1Drosophila melanogaster
M452LGLVFM---KG1Homo sapiens
M452FDLKIAGGGRA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M452FSLKLT--DRV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M452LDIQYM---KG1Arabidopsis thaliana
M452LGFTYM---RG1Drosophila melanogaster
M452LGLIFM---KG1Mus musculus
N1136LVTGPNMGGKS2Homo sapiens, Mus musculus
N1136LLTGPNMGGKS2Arabidopsis thaliana, Drosophila melanogaster
N1136LLTGANAAGKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N1136VLTGPNMAGKS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N975WGIGRNRYQLE2Homo sapiens, Mus musculus
N975KDSGKEIYTIE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N975KNIGKEVYQVE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N975VTVGKDEYLLE1Arabidopsis thaliana
N975FGSDKKRYQLD1Drosophila melanogaster
P1135VLVTGPNMGGK2Homo sapiens, Mus musculus
P1135GLLTGANAAGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P1135IVLTGPNMAGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P1135ILLTGPNMGGK1Arabidopsis thaliana
P1135SLLTGPNMGGK1Drosophila melanogaster
P408LNSCTPGMRKW2Homo sapiens, Mus musculus
P408WNKFTPFEKQY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P408WATFKPFEKQF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P408VKKLTGGQRQW1Arabidopsis thaliana
P408LNGLSPGVRQW1Drosophila melanogaster
P462AHSGFPEIAFG2Homo sapiens, Mus musculus
P462QLAGIPEMSFE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P462KMVGIPEASFD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P462PHCGFPEKNFS1Arabidopsis thaliana
P462AHSGFPEISFD1Drosophila melanogaster
P489EQTETPEMMEA2Homo sapiens, Mus musculus
P489DQRES--MLAK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P489DQLET--ALGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P489EQTETPDQLEQ1Arabidopsis thaliana
P489EQTETPDMMTE1Drosophila melanogaster
Q485VARVEQTETPE2Homo sapiens, Mus musculus
Q485VAKVDQRES--1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q485IARVDQLET--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q485VLVVEQTETPD1Arabidopsis thaliana
Q485VARVEQTETPD1Drosophila melanogaster
R468EIAFGRYSDSL1Homo sapiens
R468EMSFEYWAAQF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R468EASFDYWASQF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R468EKNFSVNIEKL1Arabidopsis thaliana
R468EISFDKMSTIL1Drosophila melanogaster
R468EIAFGRFSDSL1Mus musculus
R511DRVVRREICRI2Homo sapiens, Mus musculus
R511KGIVKRELQCI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R511EKVVQRGLTQV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R511DKVVKREVCAV1Arabidopsis thaliana
R511DKVVAREICQI1Drosophila melanogaster
S1141NMGGKSTLMRQ1Homo sapiens
S1141NAAGKSTILRM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S1141NMAGKSTLLRQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S1141NMGGKSTLLRQ1Arabidopsis thaliana
S1141NMGGKSTLMRE1Drosophila melanogaster
S1141NMGGKSTLIRQ1Mus musculus
T1142MGGKSTLMRQA1Homo sapiens
T1142AAGKSTILRMA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T1142MAGKSTLLRQV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1142MGGKSTLLRQV1Arabidopsis thaliana
T1142MGGKSTLMREV1Drosophila melanogaster
T1142MGGKSTLIRQA1Mus musculus
T407FLNSCTPGMRK2Homo sapiens, Mus musculus
T407AWNKFTPFEKQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T407AWATFKPFEKQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T407FVKKLTGGQRQ1Arabidopsis thaliana
T407FLNGLSPGVRQ1Drosophila melanogaster
T999YELKSTKKG--2Homo sapiens, Mus musculus
T999WVQMAANKT--1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T999WCKMSGTKK--1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T999YELCSSKKG--1Arabidopsis thaliana
T999YTLEGQTKGKK1Drosophila melanogaster
V429VICYKVGKFYE1Homo sapiens
V429IVFFKKGKFFE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V429VVFFQKGKFYE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V429VVFFKMGKFYE1Arabidopsis thaliana
V429VLFFKVGKFYE1Drosophila melanogaster
V429VIFYKVGKFYE1Mus musculus
V450SELGLVFM---1Homo sapiens
V450ALFDLKIAGGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V450QVFSLKLT--D1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V450KELDIQYM---1Arabidopsis thaliana
V450NELGFTYM---1Drosophila melanogaster
V450SELGLIFM---1Mus musculus
V508SKYDRVVRREI1Homo sapiens
V508EGSKGIVKREL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V508QKEEKVVQRGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V508GSKDKVVKREV1Arabidopsis thaliana
V508TKFDKVVAREI1Drosophila melanogaster
V508SKFDRVVRREI1Mus musculus
V509KYDRVVRREIC1Homo sapiens
V509GSKGIVKRELQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V509KEEKVVQRGLT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V509SKDKVVKREVC1Arabidopsis thaliana
V509KFDKVVAREIC1Drosophila melanogaster
V509KFDRVVRREIC1Mus musculus
W970RTIVYWGIGRN1Homo sapiens
W970SNIQYKDSGKE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W970SSLNFKNIGKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W970ASINYVTVGKD1Arabidopsis thaliana
W970R-ITYFGSDKK1Drosophila melanogaster
W970KSIVYWGIGRN1Mus musculus
Y1287TITFLYKFIKG2Homo sapiens, Mus musculus
Y1287NVTFLYKMLEG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y1287RVTFLYKLEDG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y1287EVTFLYRLTPG1Arabidopsis thaliana
Y1287TVTFLYKYTAG1Drosophila melanogaster
Y469IAFGRYSDSLV1Homo sapiens
Y469MSFEYWAAQFI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y469ASFDYWASQFI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y469KNFSVNIEKLV1Arabidopsis thaliana
Y469ISFDKMSTILV1Drosophila melanogaster
Y469IAFGRFSDSLV1Mus musculus
Y845SRAIMYEETTY2Homo sapiens, Mus musculus
Y845-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y845DKVVLYEDT--1Arabidopsis thaliana
Y845SRAILFEEKLY1Drosophila melanogaster


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