MSH2
entrez
4436
canonical
uniprot
P43246
canonical
ensembl
ENSG00000095002
resolver
ensp
ENSP00000233146
resolver
ensp
ENSP00000384199
resolver
ensp
ENSP00000442697
resolver
ensp
ENSP00000495455
resolver
ensp
ENSP00000495543
resolver
ensp
ENSP00000496441
resolver
ensp
ENSP00000519159
resolver
ensp
ENSP00000519166
resolver
ensp
ENSP00000580467
resolver
ensp
ENSP00000588159
resolver
ensp
ENSP00000616875
resolver
ensp
ENSP00000718056
resolver
ensp
ENSP00000753878
resolver
ensp
ENSP00000753885
resolver
ensp
ENSP00000778855
resolver
enst
ENST00000406134
resolver
enst
ENST00000645339
resolver
enst
ENST00000645506
resolver
enst
ENST00000646415
resolver
enst
ENST00000713854
resolver
genesymbol
MSH2
resolver
hgnc
HGNC:7325
resolver
uniprot
A0A2R8Y6P0
resolver
uniprot
A0A2R8YFH0
resolver
uniprot
A0A2R8YG02
resolver
uniprot
A0AAQ5BH31
resolver
uniprot
B4E2Z2
resolver
uniprot
E9PHA6
resolver
uniprot
O75488
resolver
uniprot_entry
A0A2R8Y6P0_HUMAN
resolver
uniprot_entry
A0A2R8YFH0_HUMAN
resolver
uniprot_entry
A0A2R8YG02_HUMAN
resolver
uniprot_entry
A0AAQ5BH31_HUMAN
resolver
uniprot_entry
E9PHA6_HUMAN
resolver
uniprot_entry
MSH2_HUMAN
resolver
uniprot_sec
B4E2Z2
resolver
uniprot_sec
O75488
resolver
amino_acid_sequence
MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT
uniprot
proteins
disease_involvement
DISEASE: Lynch syndrome 1 (LYNCH1) [MIM:120435]: A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269|PubMed:10375096, ECO:0000269|PubMed:10386556, ECO:0000269|PubMed:10528862, ECO:0000269|PubMed:10573010, ECO:0000269|PubMed:10612836, ECO:0000269|PubMed:10777691, ECO:0000269|PubMed:10829038, ECO:0000269|PubMed:11726306, ECO:0000269|PubMed:11870161, ECO:0000269|PubMed:11920458, ECO:0000269|PubMed:12112654, ECO:0000269|PubMed:12124176, ECO:0000269|PubMed:12132870, ECO:0000269|PubMed:12200596, ECO:0000269|PubMed:12362047, ECO:0000269|PubMed:12373605, ECO:0000269|PubMed:12655564, ECO:0000269|PubMed:12655568, ECO:0000269|PubMed:12658575, ECO:0000269|PubMed:14635101, ECO:0000269|PubMed:15046096, ECO:0000269|PubMed:15300854, ECO:0000269|PubMed:15342696, ECO:0000269|PubMed:15365995, ECO:0000269|PubMed:15613555, ECO:0000269|PubMed:15870828, ECO:0000269|PubMed:15896463, ECO:0000269|PubMed:15991316, ECO:0000269|PubMed:15996210, ECO:0000269|PubMed:16451135, ECO:0000269|PubMed:17101317, ECO:0000269|PubMed:17128465, ECO:0000269|PubMed:18561205, ECO:0000269|PubMed:18625694, ECO:0000269|PubMed:18781619, ECO:0000269|PubMed:18822302, ECO:0000269|PubMed:18951462, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:22102614, ECO:0000269|PubMed:22371642, ECO:0000269|PubMed:7874129, ECO:0000269|PubMed:8261515, ECO:0000269|PubMed:8700523, ECO:0000269|PubMed:8797773, ECO:0000269|PubMed:8872463, ECO:0000269|PubMed:9048925, ECO:0000269|PubMed:9240418, ECO:0000269|PubMed:9259192, ECO:0000269|PubMed:9298827, ECO:0000269|PubMed:9311737, ECO:0000269|PubMed:9419403, ECO:0000269|PubMed:9559627, ECO:0000269|PubMed:9621522, ECO:0000269|PubMed:9718327, ECO:0000269|PubMed:9889267}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muir-Torre syndrome (MRTES) [MIM:158320]: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. {ECO:0000269|PubMed:7713503}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000305|PubMed:11306449, ECO:0000305|PubMed:21642682}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Mismatch repair cancer syndrome 2 (MMRCS2) [MIM:619096]: An autosomal recessive form of mismatch repair cancer syndrome, a childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. {ECO:0000269|PubMed:12549480, ECO:0000269|PubMed:16372347}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12792735, ECO:0000269|PubMed:14504054, ECO:0000269|PubMed:15996210, ECO:0000269|PubMed:9559627}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containing DNA strand (PubMed:26300262). 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 conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis. {ECO:0000269|PubMed:10078208, ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730, ECO:0000269|PubMed:17611581, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:26300262, ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679, ECO:0000269|PubMed:9822680}.
uniprot
proteins
mass_dalton
104743
uniprot
proteins
mutagenesis
MUTAGEN 675; /note="K->R: No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140."; /evidence="ECO:0000269|PubMed:9564049"; MUTAGEN 845; /note="K->R: Reduces interaction with MSH6. Reduces acetylation; when associated with R-847, R-871 and R-892."; /evidence="ECO:0000269|PubMed:24882211"; MUTAGEN 847; /note="K->R: Reduces interaction with MSH6. Reduces acetylation; when associated with R-845, R-871 and R-892."; /evidence="ECO:0000269|PubMed:24882211"; MUTAGEN 871; /note="K->R: Does not affect interaction with MSH6. Reduces acetylation; when associated with R-845, R-847 and R-892."; /evidence="ECO:0000269|PubMed:24882211"; MUTAGEN 892; /note="K->R: Does not affect interaction with MSH6. Reduces acetylation; when associated with R-845, R-847 and R-871."; /evidence="ECO:0000269|PubMed:24882211
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. {ECO:0000269|PubMed:15808853}.; PTM: Sequentially deacetylated and polyubiquitinated by HDAC6, leading to MSH2 degradation. {ECO:0000269|PubMed:24882211}.
uniprot
proteins
protein_family
DNA mismatch repair MutS family
uniprot
proteins
pubmed
10023327
uniprot
proteins
pubmed
10078208
uniprot
proteins
pubmed
10375096
uniprot
proteins
pubmed
10386556
uniprot
proteins
pubmed
10469597
uniprot
proteins
pubmed
10528862
uniprot
proteins
pubmed
10573010
uniprot
proteins
pubmed
10612836
uniprot
proteins
pubmed
10660545
uniprot
proteins
pubmed
10713887
uniprot
proteins
pubmed
10777691
uniprot
proteins
pubmed
10783165
uniprot
proteins
pubmed
10829038
uniprot
proteins
pubmed
10856833
uniprot
proteins
pubmed
11306449
uniprot
proteins
pubmed
11427529
uniprot
proteins
pubmed
11429708
uniprot
proteins
pubmed
11555625
uniprot
proteins
pubmed
11726306
uniprot
proteins
pubmed
11809679
uniprot
proteins
pubmed
11839723
uniprot
proteins
pubmed
11870161
uniprot
proteins
pubmed
11920458
uniprot
proteins
pubmed
12112654
uniprot
proteins
pubmed
12124176
uniprot
proteins
pubmed
12132870
uniprot
proteins
pubmed
12200596
uniprot
proteins
pubmed
12362047
uniprot
proteins
pubmed
12373605
uniprot
proteins
pubmed
12414623
uniprot
proteins
pubmed
12549480
uniprot
proteins
pubmed
12655564
uniprot
proteins
pubmed
12655568
uniprot
proteins
pubmed
12658575
uniprot
proteins
pubmed
12792735
uniprot
proteins
pubmed
14504054
uniprot
proteins
pubmed
14635101
uniprot
proteins
pubmed
14657349
uniprot
proteins
pubmed
14676842
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15046096
uniprot
proteins
pubmed
15064730
uniprot
proteins
pubmed
15300854
uniprot
proteins
pubmed
15342696
uniprot
proteins
pubmed
15365995
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15613555
uniprot
proteins
pubmed
15808853
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15870828
uniprot
proteins
pubmed
15896463
uniprot
proteins
pubmed
15991316
uniprot
proteins
pubmed
15996210
uniprot
proteins
pubmed
16372347
uniprot
proteins
pubmed
16451135
uniprot
proteins
pubmed
17080293
uniprot
proteins
pubmed
17101317
uniprot
proteins
pubmed
17128465
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17531815
uniprot
proteins
pubmed
17611581
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18033691
uniprot
proteins
pubmed
18561205
uniprot
proteins
pubmed
18625694
uniprot
proteins
pubmed
18675275
uniprot
proteins
pubmed
18781619
uniprot
proteins
pubmed
18822302
uniprot
proteins
pubmed
18951462
uniprot
proteins
pubmed
19596235
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21120944
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21642682
uniprot
proteins
pubmed
22102614
uniprot
proteins
pubmed
22371642
uniprot
proteins
pubmed
22581703
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24882211
uniprot
proteins
pubmed
26300262
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28494185
uniprot
proteins
pubmed
7713503
uniprot
proteins
pubmed
7726159
uniprot
proteins
pubmed
7874129
uniprot
proteins
pubmed
7923193
uniprot
proteins
pubmed
8036718
uniprot
proteins
pubmed
8156592
uniprot
proteins
pubmed
8252616
uniprot
proteins
pubmed
8261515
uniprot
proteins
pubmed
8566964
uniprot
proteins
pubmed
8690195
uniprot
proteins
pubmed
8700523
uniprot
proteins
pubmed
8769132
uniprot
proteins
pubmed
8797773
uniprot
proteins
pubmed
8872463
uniprot
proteins
pubmed
8942985
uniprot
proteins
pubmed
8993976
uniprot
proteins
pubmed
9048925
uniprot
proteins
pubmed
9087566
uniprot
proteins
pubmed
9240418
uniprot
proteins
pubmed
9259192
uniprot
proteins
pubmed
9298827
uniprot
proteins
pubmed
9311737
uniprot
proteins
pubmed
9419403
uniprot
proteins
pubmed
9559627
uniprot
proteins
pubmed
9564049
uniprot
proteins
pubmed
9621522
uniprot
proteins
pubmed
9718327
uniprot
proteins
pubmed
9777949
uniprot
proteins
pubmed
9788596
uniprot
proteins
pubmed
9822679
uniprot
proteins
pubmed
9822680
uniprot
proteins
pubmed
9889267
uniprot
proteins
sequence_length
934
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24882211, ECO:0000269|PubMed:26300262}. Chromosome {ECO:0000269|PubMed:26300262}.
uniprot
proteins