{"entity":{"id":"msh2","kind":"target","name":"MSH2","aka":["mutS homolog 2","DNA mismatch repair protein Msh2","HNPCC","HNPCC1","MSH-2","COCA1"],"tldr":"MSH2 (DNA mismatch repair protein Msh2) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Endometrial cancer, Ovarian cancer and 5 more.","summary":"Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 8 variants, naming Nivolumab, Durvalumab and Anti-PD-1 Monoclonal Antibody MEDI0680. Open Targets scores its association with cancer at 0.93 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.76, literature 0.98, genetic association 0.96, somatic mutation 0.97, animal model 0.65). In OnCo, 1 product record names it (VENTANA MMR RxDx Panel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7325","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325"},{"label":"UniProt P43246","url":"https://www.uniprot.org/uniprotkb/P43246/entry"},{"label":"NCBI Gene 4436","url":"https://www.ncbi.nlm.nih.gov/gene/4436"},{"label":"Ensembl ENSG00000095002","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000095002"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","endometrial","ovarian","breast-cancer","gastric","skin-cancer","sarcoma","rectal-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-mmr-rxdx"],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 8 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Transitional Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSH2","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7325","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43246","url":"https://www.uniprot.org/uniprotkb/P43246/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MSH2","url":"https://civicdb.org/features/3628","note":"8 evidence items, 0 assertions, 8 variants; diseases: Colorectal Cancer, Endometrial Cancer, Cancer, Transitional Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000095002","url":"https://platform.opentargets.org/target/ENSG00000095002/associations","note":"association with cancer (MONDO_0004992) 0.93; per-cancer scores at or above 0.5: colorectal cancer 0.92, gastric cancer 0.63, ovarian cancer 0.74, endometrial cancer 0.74, melanoma 0.52, sarcoma 0.53 (GraphQL API, CC0)"}],"hgnc":"HGNC:7325","ensembl":"ENSG00000095002","uniprot":"P43246","entrez":"4436","biology":"Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognises single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognises larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Location: Nucleus; Chromosome (UniProt). Locus 2p21-p16.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.92 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Endometrial cancer: Open Targets association 0.74 with endometrial cancer (MONDO_0011962); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.74 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},"route":"/targets/msh2/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"rectal-cancer","kind":"cancer","name":"Rectal cancer","route":"/cancers/rectal-cancer/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"drug":[{"id":"ventana-mmr-rxdx","kind":"drug","name":"VENTANA MMR RxDx Panel","route":"/drugs/ventana-mmr-rxdx/"}],"pathway":[{"id":"colorectal-cancer-signalling","kind":"pathway","name":"Colorectal cancer (KEGG map)","route":"/pathways/colorectal-cancer-signalling/"}]}}