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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
MSH6 2956 MutS homolog 6 (E. coli)  2GTBP; HSAP; HNPCC5 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
21836479   2011Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Down-regulation-Mismatch repair defects were identified in 92% of MSH6 tumors, with high concordance between microsatellite instability and loss of immunohistochemical MSH6 expression.

22283331   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

real time PCR-HRM analysis.Mutation--

22495361   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

ImmunohistochemistryMutation-In 56 (7%) of 815 families, at least 1 MSH6 mutation, 23 definitively pathogenic mutations and 38 missense mutations or unclassified variants, and several polymorphisms in the MSH6 gene were detected.

22918162   2012Cell line : -

Source : -

Sample Type : CRC tumor and Normal tissue

No. of Sample : 420

Stage : -

ImmunohistochemistryMutation-Significant reduction of MSH6 staining is more likely to occur in colorectal carcinoma, and suggest that somatic mutations of the coding region microsatellites of the MSH6 gene is an underlying mechanism for this staining phenomenon in MLH1/PMS2-deficient carcinomas.

22933731   2012Cell line : -

Source : Colon Cancer Family Registry.

Sample Type : -

No. of Sample : -

Stage : -

-Mutation-Obtained data from the Colon Cancer Family Registry for 764 carriers of an MMR gene mutation (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had a previous diagnosis of colorectal cancer.

22997602   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Mutation-Mutationm due to inactivation of DNA mismatch repair syste,results MSI.


Gene Details



Chromosome: 2; NC_000002.11 (48010221..48034092)

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Gene Type protein coding
Gene Family -
Description This gene encodes a protein similar to the MutS protein. 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 of this gene combines 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 have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. [provided by RefSeq, Jul 2008]  
Chromosome 2
Location 2p16
Start 47783082  
End 47806953  
Strand +  
Gene Sequence

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Length 23872  
OMIM ID 600678   
HGNC ID HGNC:7329   
Unigene ID Hs.445052    
Ensembl ID ENSG00000116062   
PharmGKB ID PA184   

mRNA Information


mRNA ID NM_000179.2
Exon join(1..412,7846..8042,12813..12982,15530..18074, 20339..20604,21829..21946,22537..22626,23123..23277, 23371..23570,23698..23872)  
mRNA Sequence

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Length 4435  



CDS Information


   
Locationjoin(153..412,7846..8042,12813..12982,15530..18074, 20339..20604,21829..21946,22537..22626,23123..23277, 23371..23570,23698..23779)
CDS Sequence

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CCDS ID CCDS1836.1



Protein Information


      
Protein IDNP_000170.1
Protein NameMutS homolog 6 (E. coli)
Molecular Wt. (Da)152655
Protein Sequence

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Length 1360  
Uniprot IDP35613
Ensembl Protein ID ENSP00000333769  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation227
SPhosphorylation252
SPhosphorylation254
SPhosphorylation256
SPhosphorylation261
SPhosphorylation830
SPhosphorylation137
SPhosphorylation137;-
SPhosphorylation348;-
TPhosphorylation924;-
SPhosphorylation219;-
TPhosphorylation139;-
SPhosphorylation144;-
SPhosphorylation14
SPhosphorylation79
SPhosphorylation91
SPhosphorylation200
TPhosphorylation213
YPhosphorylation214
TPhosphorylation305
SPhosphorylation309
TPhosphorylation86
KAcetylation504
KAcetylation70
SPhosphorylation274
SPhosphorylation275
SPhosphorylation279
SPhosphorylation280
SPhosphorylation285
SPhosphorylation292
TPhosphorylation269
SPhosphorylation935
SPhosphorylation43
TPhosphorylation488
TPhosphorylation895
SPhosphorylation87
SPhosphorylation666
SPhosphorylation668

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4436MSH2389NP_000242.1in vitro;in vivo;yeast 2-hybrid97   746   768   942   985   
4595MUTYH5380NP_001121897.1in vitro;in vivo11801590   
5111PCNA1456NP_002583.1in vitro;in vivo110   058   031   217   192   000   000   000   


Pathway Information


                  
Pathway Name Pathway ID
Colorectal cancer hsa05210
Mismatch repair hsa03430
Pathways in cancer hsa05200


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd0583788-195  MSH6_like
cl0255488-195  PWWP superfamily
cd032861091-1313  ABC_MSH6_euk
cl214551091-1313  P-loop_NTPase superfamily
pfam004881074-1325  MutS_V
smart005341129-1320  MUTSac
cd032841090-1315  ABC_MutS1
cd032431090-1308  ABC_MutS_homologs
cd032851091-1324  ABC_MSH2_euk
cd032871089-1315  ABC_MSH3_euk
pfam05192737-1064  MutS_III
cl17822737-1064  MutS_III superfamily
cd032811090-1308  ABC_MSH5_euk
cd032821093-1308  ABC_MSH4_euk
pfam01624407-525  MutS_I
cl03286407-525  MutS_I superfamily
cd032801090-1304  ABC_MutS2
cd0516290-181  PWWP
cd032831090-1299  ABC_MutS-like
cd032271090-1273  ABC_Class2
pfam0085590-182  PWWP
smart0029390-152  PWWP
pfam05190932-1024  MutS_IV
pfam05188538-693  MutS_II
cl04975538-693  MutS_II superfamily
cd002671104-1262  ABC_ATPase
cd0583690-168  N_Pac_NP60
cd0583992-184  BR140_related
cd0583590-183  Dnmt3b_related
cd0583489-159  HDGF_related
cd0584090-155  SPBC215_ISWI_like
cd0608090-151  MUM1_like
cd0584192-152  BS69_related
cd0583893-162  WHSC1_related
COG0249407-1336  MutS
PRK05399407-1360  PRK05399
TIGR01070407-1325  mutS1
smart00533755-1099  MUTSd
TIGR010691011-1330  mutS2
COG1193778-1330  MutS2
PRK004091042-1328  PRK00409
pfam04502248-359  DUF572


Ontology Information


   
HPRD ID176
Molecular ClassDNA repair protein
Molecular FunctionReceptor activity (GO:0004872)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO