| Name | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
| Symbol | MSH2 |
| Aliases | FCC1; COCA1; HNPCC; HNPCC1; mutS (E. coli) homolog 2; mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1) |
| Gene Product | |
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.78934 |
| OMIM | 120435 |
| Locus | 4436 |
| Summary | MSH2 was identified as a locus 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. |
| Gene Ontology | |
| Expression | | EST (170 ESTs, 87 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (1/15) |  | 2/17521 |
| b cells (1/1) | | 2/16734 |
| blood (1/27) | | 1/40686 |
| bone marrow (2/263) | | 2/38555 |
| brain (7/204) | | 12/362011 |
| cervix (1/7) | | 1/28115 |
| colon (6/853) | | 10/165626 |
| ear (1/2) | | 1/12660 |
| embryo (3/19) | | 5/37976 |
| eye (4/33) | | 14/93836 |
| germ cell (1/7) | | 11/57383 |
| head and neck (1/990) | | 1/79796 |
| heart (1/22) | | 2/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (4/86) | | 7/132968 |
| lung (3/312) | | 3/245386 |
| muscle (1/21) | | 2/71297 |
| nervous (1/475) | | 1/43438 |
| oral cavity (1/18) | | 4/44567 |
| ovary (2/144) | | 2/81880 |
| parathyroid (1/4) | | 1/19377 |
| placenta (2/342) | | 3/157762 |
| prostate (2/291) |  | 2/109871 |
| skin (4/31) | | 9/100815 |
| stomach (8/312) | | 8/129930 |
| testis (3/171) | | 11/117531 |
| uncharacterized tissue (23/1773) | | 49/713325 |
| uterus (1/212) | | 3/155110 |
|
| SAGE (13204412 tags, 249 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (19/19) | | 95/2983086 |
| cerebellum (1/1) | | 8/205120 |
| colon (8/8) | | 39/1072025 |
| eye (4/6) | | 62/1578990 |
| foreskin (1/2) | | 1/9497 |
| heart (1/1) | | 5/253071 |
| kidney (2/2) | | 7/73935 |
| liver (1/1) | | 2/133722 |
| lung (1/1) | | 6/267429 |
| mammary gland (14/19) | | 108/1677374 |
| ovary (7/10) | | 32/678585 |
| pancreas (8/8) | | 27/577023 |
| prostate (8/13) | | 15/595364 |
| skin (6/7) | | 9/97807 |
| stomach (3/3) | | 12/509531 |
| uncharacterized tissue (18/22) | | 105/2007768 |
| vascular (3/3) | | 20/484085 |
|
|
| SNP | rs2347793 (A/G:intron); rs2081483 (A/T:intron); rs1981927 (A/G:intron); rs2553557 (C/T:intron); rs1863332 (A/G:locus-region); rs756561 (C/T:locus-region); rs2059519 (C/T:intron); rs1800150 (A/G:coding-nonsyn); rs2709551 (G/C:intron); rs2042649 (C/T:intron); rs1802577 (C/A:coding-nonsyn); rs2303425 (T/C:intron); |
| Evidence | Mutation in Prostate cancer
|
