MSH2是抑癌基因，编码蛋白是MutS蛋白同源物，参与参与错配修复过程。MSH2与其他MutS蛋白MSH6和MSH3形成异二聚体，分别形成MutS-α和MutS-β错配修复（MMR）复合物。两种复合物都参与识别错配的碱基对，形成DNA-MutS复合物，其发出信号通知MMR机器的其他组分以切除异常核苷酸。MSH2和其他MMR基因与遗传性非息肉病结肠癌（HNPCC，也称为Lynch综合征）相关。MSH2突变占所有HNPCC病例的约40％，并且与MSI高表型相关。MSH2突变在结肠癌中最常见，但也已在多种其他癌症类型和综合征中报道，包括子宫内膜癌和子宫癌以及皮脂腺肿瘤。

The MSH2 (MutS protein homolog 2) protein is a tumor suppressor involved in the mismatch repair process. MSH2 forms heterodimers with other MutS proteins, MSH6 and MSH3, to form the MutS-alpha and MutS-beta mismatch repair (MMR) complexes, respectively. Both complexes are involved in the recognition of a mismatched base pair, forming a DNA-MutS complex that signals other components of the MMR machinery to excise the aberrant nucleotide. MSH2 and other MMR genes are most notably implicated in hereditary non-polyposis colon cancer (HNPCC), also known as Lynch syndrome. Loss of function mutations or epigenetic silencing both in the germline and somatic context lead to an increased mutation rate that drives carcinogenesis as well as microsatellite instability (MSI). MSH2 mutations represent approximately 40% of all HNPCC cases and are associated with the MSI-high phenotype, along with mutations in MLH1. Although most commonly seen in colon cancer, MSH2 mutations have also been reported in a wide range of other cancer types and syndromes, including endometrial and uterine cancers, and sebaceous gland tumors.

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