| MSH2 |
| LOCUS ID | 4436 | ||||||||||
| GENE_SYMBOL | MSH2 | ||||||||||
| GENE NAME | mutS homolog 2 | ||||||||||
| SYNONYMNS | FCC1, COCA1, HNPCC, LCFS2, HNPCC1 | ||||||||||
| CHROMOSOME | 2 | ||||||||||
| HOMOLOGENE ID | 210 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| 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. [provided by RefSeq, Apr 2012] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Cardiovascular | 1. Significant up-regulation of the MSH2 (2. 49-fold, P=0.001), XRCC1 (2. 11-fold, P=0.001) and ATM (2. 15-fold, P=0.003) genes was observed in patients with T2DM and CAD. | 26088318 |