Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MSH6 | 2956 | MutS homolog 6 (E. coli)  | 2 | GTBP; 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    | 2011 | Cell 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    | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | real time PCR-HRM analysis. | Mutation | - | - |
| 22495361    | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry | Mutation | - | 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    | 2012 | Cell line : - Source : - Sample Type : CRC tumor and Normal tissue No. of Sample : 420 Stage : - | Immunohistochemistry | Mutation | - | 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    | 2012 | Cell 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    | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Mutation | - | Mutationm due to inactivation of DNA mismatch repair syste,results MSI. |
Gene Details

| 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 |    Download   Select all |
| 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 |    Download   Select all |
| Length | 4435   |
CDS Information
| Location | join(153..412,7846..8042,12813..12982,15530..18074, 20339..20604,21829..21946,22537..22626,23123..23277, 23371..23570,23698..23779) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS1836.1 |    
Protein Information
| Protein ID | NP_000170.1 |
|---|---|
| Protein Name | MutS homolog 6 (E. coli) |
| Molecular Wt. (Da) | 152655 |
| Protein Sequence |    Download   Select all |
| Length | 1360   |
| Uniprot ID | P35613 |    
| Ensembl Protein ID | ENSP00000333769   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 227 |
| S | Phosphorylation | 252 |
| S | Phosphorylation | 254 |
| S | Phosphorylation | 256 |
| S | Phosphorylation | 261 |
| S | Phosphorylation | 830 |
| S | Phosphorylation | 137 |
| S | Phosphorylation | 137;- |
| S | Phosphorylation | 348;- |
| T | Phosphorylation | 924;- |
| S | Phosphorylation | 219;- |
| T | Phosphorylation | 139;- |
| S | Phosphorylation | 144;- |
| S | Phosphorylation | 14 |
| S | Phosphorylation | 79 |
| S | Phosphorylation | 91 |
| S | Phosphorylation | 200 |
| T | Phosphorylation | 213 |
| Y | Phosphorylation | 214 |
| T | Phosphorylation | 305 |
| S | Phosphorylation | 309 |
| T | Phosphorylation | 86 |
| K | Acetylation | 504 |
| K | Acetylation | 70 |
| S | Phosphorylation | 274 |
| S | Phosphorylation | 275 |
| S | Phosphorylation | 279 |
| S | Phosphorylation | 280 |
| S | Phosphorylation | 285 |
| S | Phosphorylation | 292 |
| T | Phosphorylation | 269 |
| S | Phosphorylation | 935 |
| S | Phosphorylation | 43 |
| T | Phosphorylation | 488 |
| T | Phosphorylation | 895 |
| S | Phosphorylation | 87 |
| S | Phosphorylation | 666 |
| S | Phosphorylation | 668 |
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 |
|---|---|---|---|---|---|
| 4436 |    MSH2 |    389 |    NP_000242.1 |    in vitro;in vivo;yeast 2-hybrid |    97   746   768   942   985    |
| 4595 |    MUTYH |    5380 |    NP_001121897.1 |    in vitro;in vivo |    11801590    |
| 5111 |    PCNA |    1456 |    NP_002583.1 |    in vitro;in vivo |    110   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 |
|---|---|---|
| cd05837 | 88-195  | MSH6_like |
| cl02554 | 88-195  | PWWP superfamily |
| cd03286 | 1091-1313  | ABC_MSH6_euk |
| cl21455 | 1091-1313  | P-loop_NTPase superfamily |
| pfam00488 | 1074-1325  | MutS_V |
| smart00534 | 1129-1320  | MUTSac |
| cd03284 | 1090-1315  | ABC_MutS1 |
| cd03243 | 1090-1308  | ABC_MutS_homologs |
| cd03285 | 1091-1324  | ABC_MSH2_euk |
| cd03287 | 1089-1315  | ABC_MSH3_euk |
| pfam05192 | 737-1064  | MutS_III |
| cl17822 | 737-1064  | MutS_III superfamily |
| cd03281 | 1090-1308  | ABC_MSH5_euk |
| cd03282 | 1093-1308  | ABC_MSH4_euk |
| pfam01624 | 407-525  | MutS_I |
| cl03286 | 407-525  | MutS_I superfamily |
| cd03280 | 1090-1304  | ABC_MutS2 |
| cd05162 | 90-181  | PWWP |
| cd03283 | 1090-1299  | ABC_MutS-like |
| cd03227 | 1090-1273  | ABC_Class2 |
| pfam00855 | 90-182  | PWWP |
| smart00293 | 90-152  | PWWP |
| pfam05190 | 932-1024  | MutS_IV |
| pfam05188 | 538-693  | MutS_II |
| cl04975 | 538-693  | MutS_II superfamily |
| cd00267 | 1104-1262  | ABC_ATPase |
| cd05836 | 90-168  | N_Pac_NP60 |
| cd05839 | 92-184  | BR140_related |
| cd05835 | 90-183  | Dnmt3b_related |
| cd05834 | 89-159  | HDGF_related |
| cd05840 | 90-155  | SPBC215_ISWI_like |
| cd06080 | 90-151  | MUM1_like |
| cd05841 | 92-152  | BS69_related |
| cd05838 | 93-162  | WHSC1_related |
| COG0249 | 407-1336  | MutS |
| PRK05399 | 407-1360  | PRK05399 |
| TIGR01070 | 407-1325  | mutS1 |
| smart00533 | 755-1099  | MUTSd |
| TIGR01069 | 1011-1330  | mutS2 |
| COG1193 | 778-1330  | MutS2 |
| PRK00409 | 1042-1328  | PRK00409 |
| pfam04502 | 248-359  | DUF572 |
Ontology Information
| HPRD ID | 176 |    
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Receptor activity (GO:0004872) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
