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 MSH3
Gene summary
Basic gene Info.Gene symbolMSH3
Gene namemutS homolog 3
SynonymsDUP|MRP1
CytomapUCSC genome browser: 5q11-q12
Type of geneprotein-coding
RefGenesNM_002439.4,
DescriptionDNA mismatch repair protein Msh3divergent upstream proteinhMSH3mismatch repair protein 1
Modification date20141207
dbXrefs MIM : 600887
HGNC : HGNC
Ensembl : ENSG00000113318
HPRD : 02931
Vega : OTTHUMG00000162540
ProteinUniProt: P20585
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MSH3
BioGPS: 4437
PathwayNCI Pathway Interaction Database: MSH3
KEGG: MSH3
REACTOME: MSH3
Pathway Commons: MSH3
ContextiHOP: MSH3
ligand binding site mutation search in PubMed: MSH3
UCL Cancer Institute: MSH3
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:0006281DNA repair8942985
GO:0045910negative regulation of DNA recombination17715146
GO:0051096positive regulation of helicase activity17715146


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Ligand binding site mutations for MSH3
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
C252V250MCOAD1
S759K757NCOAD1
H293V292LOV1
K770,T774G772RSKCM1
S759K757NUCEC1
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 MSH3
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
C252V250M-1.0057338
H293V292L-0.89794846
S759K757N-0.50060775
K770G772R-0.49298805
T774G772R-0.49298805
(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 MSH3 from PDB

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Differential gene expression and gene-gene network for MSH3
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 MSH3 and the right PPI network was created from samples without mutations in the LBS of MSH3. 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 MSH3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0476089Endometrial Carcinoma6Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms1Biomarker, GeneticVariation
umls:C0152013Adenocarcinoma of lung1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for MSH3
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 MSH3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MSH3
Multiple alignments for P20585 in multiple species
LBSAA sequence# speciesSpecies
C252VLCVECGYKYR2Homo sapiens, Mus musculus
C252VLIVEVGYKFR1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
C252LLIVEVGYKFR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
C252VLMVEVGYRYR1Arabidopsis thaliana
F326NRSSLFSRKLT1Homo sapiens
F326NRNAPFVRKLC1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F326NRNAPFVRKLT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F326NRTGPFFRGLS1Arabidopsis thaliana
F326NKSSVFSRKLT1Mus musculus
G253LCVECGYKYRF2Homo sapiens, Mus musculus
G253LIVEVGYKFRF2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G253LMVEVGYRYRF1Arabidopsis thaliana
H275-----HLDHNF2Homo sapiens, Mus musculus
H275HPSEAHLDR-F2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H275-----HMDHNF1Arabidopsis thaliana
H278--HLDHNFMTA2Homo sapiens, Mus musculus
H278EAHLDR-FASA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H278--HMDHNFMTA1Arabidopsis thaliana
H288ASIPTHRLFVH2Homo sapiens, Mus musculus
H288ASIPVHRLPVH2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H288ASVPTFRLNFH1Arabidopsis thaliana
H293HRLFVHVRRLV2Homo sapiens, Mus musculus
H293HRLPVHAKRLV2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H293FRLNFHVRRLV1Arabidopsis thaliana
I272ARELNIYC---2Homo sapiens, Mus musculus
I272GKELSIVCIPG1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
I272ARELSIVCIPG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I272ARVLGIYA---1Arabidopsis thaliana
K226ANKRSKSIYTP1Homo sapiens
K226KKGAKSGKLTP1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K226KKGAKTGKLTP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K226---SSSRKYTP1Arabidopsis thaliana
K226FNKRSKSVYTP1Mus musculus
K255VECGYKYRFFG2Homo sapiens, Mus musculus
K255VEVGYKFRFFG2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K255VEVGYRYRFFG1Arabidopsis thaliana
K770PASWAKISGTK2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K770PTDWVKVGSTK1Homo sapiens
K770PMNWVKVNSTK1Arabidopsis thaliana
K770PADWVKVGSTK1Mus musculus
K775KVGSTKAVSRF2Homo sapiens, Mus musculus
K775KISGTKKLSRF1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K775KISGTKKVSRF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K775KVNSTKKTIRY1Arabidopsis thaliana
L232GKLTPMELQFL2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L232SIYTPLELQYI1Homo sapiens
L232RKYTPLEQQVV1Arabidopsis thaliana
L232SVYTPLELQYL1Mus musculus
L325DNRNAPFVRKL2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L325DNRSSLFSRKL1Homo sapiens
L325ANRTGPFFRGL1Arabidopsis thaliana
L325DNKSSVFSRKL1Mus musculus
P231KSIYTPLELQY1Homo sapiens
P231SGKLTPMELQF1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
P231TGKLTPMELQF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P231SRKYTPLEQQV1Arabidopsis thaliana
P231KSVYTPLELQY1Mus musculus
P286MTASIPTHRLF2Homo sapiens, Mus musculus
P286ASASIPVHRLP2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P286MTASVPTFRLN1Arabidopsis thaliana
Q309VGVVKQTETAA2Homo sapiens, Mus musculus
Q309VGVVRQIETAA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Q309IGVVKQTETAA1Arabidopsis thaliana
R289SIPTHRLFVHV2Homo sapiens, Mus musculus
R289SIPVHRLPVHA2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R289SVPTFRLNFHV1Arabidopsis thaliana
R322KAGDNRNAPFV2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R322AIGDNRSSLFS1Homo sapiens
R322SHGANRTGPFF1Arabidopsis thaliana
R322AIGDNKSSVFS1Mus musculus
R328SSLFSRKLTAL1Homo sapiens
R328NAPFVRKLCEV1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
R328NAPFVRKLTNV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R328TGPFFRGLSAL1Arabidopsis thaliana
R328SSVFSRKLTAL1Mus musculus
R779TKAVSRFHSPF1Homo sapiens
R779TKKLSRFHTPE1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
R779TKKVSRFHTPT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R779TKKTIRYHPPE1Arabidopsis thaliana
R779TKAVSRFHPPF1Mus musculus
S225SANKRSKSIYT1Homo sapiens
S225KKKGAKSGKLT1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S225KKKGAKTGKLT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S225----SSSRKYT1Arabidopsis thaliana
S225PFNKRSKSVYT1Mus musculus
S284NFMTASIPTHR2Homo sapiens, Mus musculus
S284-FASASIPVHR2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S284NFMTASVPTFR1Arabidopsis thaliana
S323AGDNRNAPFVR2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S323IGDNRSSLFSR1Homo sapiens
S323HGANRTGPFFR1Arabidopsis thaliana
S323IGDNKSSVFSR1Mus musculus
S748QYVTVSGQEFM2Homo sapiens, Mus musculus
S748DYVTVAGIEYL1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S748NYVTVAGIEYL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S748EFLQVSGITHL1Arabidopsis thaliana
S759IEIKNSAVSCI2Homo sapiens, Mus musculus
S759IEVPNTEIRKV1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S759IEVPNTDLKRV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S759IELPVD--SKV1Arabidopsis thaliana
T230SKSIYTPLELQ1Homo sapiens
T230KSGKLTPMELQ1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T230KTGKLTPMELQ1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T230SSRKYTPLEQQ1Arabidopsis thaliana
T230SKSVYTPLELQ1Mus musculus
T746SAQYVTVSGQE1Homo sapiens
T746AVDYVTVAGIE1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T746PVNYVTVAGIE1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T746NLEFLQVSGIT1Arabidopsis thaliana
T746SLQYVTVSGQE1Mus musculus
T774VKVGSTKAVSR2Homo sapiens, Mus musculus
T774AKISGTKKLSR1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T774AKISGTKKVSR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T774VKVNSTKKTIR1Arabidopsis thaliana
V747AQYVTVSGQEF1Homo sapiens
V747VDYVTVAGIEY1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
V747VNYVTVAGIEY1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
V747LEFLQVSGITH1Arabidopsis thaliana
V747LQYVTVSGQEF1Mus musculus
Y254CVECGYKYRFF2Homo sapiens, Mus musculus
Y254IVEVGYKFRFF2Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y254MVEVGYRYRFF1Arabidopsis thaliana
Y273RELNIYC----2Homo sapiens, Mus musculus
Y273KELSIVCIPGK1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Y273RELSIVCIPGK1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y273RVLGIYA----1Arabidopsis thaliana


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