Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene Symbol MSH2
Synonyms COCA1 | FCC1 | hMSH2 | HNPCC | HNPCC1 | LCFS2 | LYNCH1 | MMRCS2 | MSH-2
Gene Description MSH2, mutS homolog 2, is a tumor suppressor (PMID: 30562755) that functions as part of the DNA mismatch repair system (PMID: 9024626, PMID: 18157157) and is associated with microsatellite instability (MSI) (PMID: 30121009) and genomic stability (PMID: 31747945). Mutations in MSH2 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 23255516), and germline MSH2 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (HNPCC1) (PMID: 15528792).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
4436 2 2p21-p16.3 NM_000251 Tumor suppressor (PMID: 30606230)
Additional content available in CKB BOOST