Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | MSH6 |
| Gene Name: | MSH6 |
| Protein Full Name: | DNA mismatch repair protein Msh6 |
| Alias: | DNA mismatch repair MSH6; G/T mismatch binding protein; GTBP; GTMBP; MutS 6; MutS homolog 6 (E. coli); MutS-alpha 160 kDa; MutS-alpha 160 kDa subunit; P160 |
| Mass (Da): | 152786 |
| Number AA: | 1360 |
| UniProt ID: | P52701 |
| Locus ID: | 2956 |
| COSMIC ID: | MSH6 |
| Gene location on chromosome: | 2p16 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22307 |
| Percent of cancer specimens with mutations: | 1.75 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, 6 deletions, 3 inserts and 1 complex mutations across the entire protein. |
| Mutations observed as inherited: | Hereditary non-polyposis colorectal cancer, endometrial cancer, ovarian cancer, lung cancer |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MSH6 is a DNA repair protein involved in DNA mismatch repair. Defects have been associated with hereditary non-polyposis colorectal cancer type 5 and endometrial cancer. |