| Gene Symbol |
MSH2
|
| Entrez Gene |
4436
|
| Alt Symbol |
COCA1, FCC1, HNPCC, HNPCC1, LCFS2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
mutS homolog 2
|
| Other Description |
DNA mismatch repair protein Msh2|hMSH2|mutS homolog 2, colon cancer, nonpolyposis type 1
|
| Swissprots |
O75488 P43246 B4E2Z2
|
| Accessions |
AAA82080 AAC27930 AAD14821 AAQ23475 AAS99351 AAY15096 ABQ45882 ABQ45885 ABQ45886 EAX00213 EAX00214 EAX00215 P43246 AK222860 BAD96580 AK223284 BAD97004 AK296831 BAG59401 AK297763 BAG60111 AK299667 BAG61581 AK304496 BAG65304 AK310679 AK311330 BC001122 BC012599 BC021566 AAH21566 BX649122 CB250419 DC342099 DQ648894 ABG49489 DQ648895 ABG49490 DQ648896 ABG49491 DQ648897 ABG49492 DQ892558 ABM83484 DQ895772 ABM86698 L47574 AAB59566 L47575 AAB59567 L47576 AAB59568 L47577 AAB59569 L47578 AAB59570 L47579 AAB59571 L47580 AAB59572 L47581 AAA76858 L47582 AAB59565 L47583 AAB59564 U03911 AAA18643 U04045 AAA61870 XM_005264332 XP_005264389 XM_011532867 XP_011531169 XR_939685 NM_000251 NP_000242 NM_001258281 NP_001245210
|
| Function |
Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2- MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformationa
|
| Subcellular Location |
Nucleus {ECO:0000305}.
|
| Tissue Specificity |
Ubiquitously expressed. {ECO:0000269|PubMed:10856833}.
|
| Top Pathways |
Mismatch repair, Colorectal cancer
|
