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: | MSH2 |
| Gene Name: | MSH2 |
| Protein Full Name: | DNA mismatch repair protein Msh2 |
| Alias: | COCA1; FCC1; HNPCC; HNPCC1; MutS (E. coli) homolog 2; MutS 2, colon cancer, nonpolyposis type 1; MutS homolog 2 (E. coli); MutS protein homologue 2 |
| Mass (Da): | 104743 |
| Number AA: | 934 |
| UniProt ID: | P43246 |
| Locus ID: | 4436 |
| COSMIC ID: | MSH2 |
| Gene location on chromosome: | 2p22-p21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21617 |
| Percent of cancer specimens with mutations: | 1.03 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, 1 insertion and no complex mutations across the entire protein. |
| Mutations observed as inherited: | Hereditary Nonpolyposis Colorectal Cancer type 1: HNPCC1; also known as Lynch Syndrome Non-hereditary: Colorectal cancer (without polyposis), gastric, endometrial cancers. |
| Normal role description: | DNA mismatch repair, cell cycle regulation. It binds to MSH3 or MSH6 to recognize mismatch based pairs and recruits protein for DNA repair. |