该基因座在遗传性非息肉性结肠癌(HNPCC)中经常发生突变。克隆时,发现它是大肠杆菌错配修复基因muts的人类同源物,与在hnpcc中发现的微卫星序列(rer+表型)的特征性变化一致。两个编码不同亚型的转录变体已经被发现。
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene.

基因名:MSH2
别名:COCA1,FCC1,HNPCC,HNPCC1,LCFS2
基因ID:4436
Chromosome:
(GRCh37)
2 Start: 47630108 End: 47789450 Strand: 1
疾病: 林奇综合征 尿路上皮癌 
靶向药: MEDI0680 MEDI4736 
MSH2 基因突变与药物