The MSH2 gene homepage
| General information |
| Gene symbol |
MSH2 |
| Gene name |
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
| Chromosome |
2 |
| Chromosomal band |
p21 |
| Imprinted |
- |
| Genomic reference |
NG_007110.2 |
| Transcript reference |
NM_000251.1 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
119 |
| Unique public DNA variants reported |
81 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: FCC1; COCA1; HNPCC; LCFS2; HNPCC1 |
| Date created |
April 29, 2013 |
Active transcripts
| Copyright & disclaimer |
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