MSH2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutS homolog 2 | MIM:609309 | Ensembl:ENSG00000095002 | HGNC:HGNC:7325 | PA31133 | 2p21-p16.3 |
GO terms in MSH2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000287 | magnesium ion binding |
| MF | IDA | GO:0000287 | magnesium ion binding |
| MF | IBA | GO:0000400 | four-way junction DNA binding |
| MF | IDA | GO:0000400 | four-way junction DNA binding |
| MF | IBA | GO:0000403 | Y-form DNA binding |
| MF | IBA | GO:0000404 | heteroduplex DNA loop binding |
| MF | IBA | GO:0000406 | double-strand/single-strand DNA junction binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003690 | double-stranded DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005524 | ATP binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IBA | GO:0008094 | DNA-dependent ATPase activity |
| MF | IDA | GO:0016887 | ATPase activity |
| MF | IEA | GO:0019237 | centromeric DNA binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IBA | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IBA | GO:0030983 | mismatched DNA binding |
| MF | IDA | GO:0030983 | mismatched DNA binding |
| MF | IBA | GO:0032137 | guanine/thymine mispair binding |
| MF | IDA | GO:0032137 | guanine/thymine mispair binding |
| MF | IMP | GO:0032137 | guanine/thymine mispair binding |
| MF | IBA | GO:0032138 | single base insertion or deletion binding |
| MF | IDA | GO:0032139 | dinucleotide insertion or deletion binding |
| MF | IBA | GO:0032142 | single guanine insertion binding |
| MF | IDA | GO:0032142 | single guanine insertion binding |
| MF | IBA | GO:0032143 | single thymine insertion binding |
| MF | IDA | GO:0032143 | single thymine insertion binding |
| MF | IBA | GO:0032181 | dinucleotide repeat insertion binding |
| MF | IDA | GO:0032181 | dinucleotide repeat insertion binding |
| MF | IBA | GO:0032357 | oxidized purine DNA binding |
| MF | IDA | GO:0032357 | oxidized purine DNA binding |
| MF | IBA | GO:0032405 | MutLalpha complex binding |
| MF | IDA | GO:0032405 | MutLalpha complex binding |
| MF | IBA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0043531 | ADP binding |
| MF | IDA | GO:0043531 | ADP binding |
| CC | IBA | GO:0000228 | nuclear chromosome |
| CC | HDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | HDA | GO:0016020 | membrane |
| CC | IBA | GO:0032300 | mismatch repair complex |
| CC | IBA | GO:0032301 | MutSalpha complex |
| CC | IDA | GO:0032301 | MutSalpha complex |
| CC | IBA | GO:0032302 | MutSbeta complex |
| CC | IDA | GO:0032302 | MutSbeta complex |
| BP | IBA | GO:0000710 | meiotic mismatch repair |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0006119 | oxidative phosphorylation |
| BP | IDA | GO:0006281 | DNA repair |
| BP | IBA | GO:0006290 | pyrimidine dimer repair |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | IDA | GO:0006298 | mismatch repair |
| BP | IGI | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | IBA | GO:0006301 | postreplication repair |
| BP | IDA | GO:0006301 | postreplication repair |
| BP | IBA | GO:0006302 | double-strand break repair |
| BP | IBA | GO:0006311 | meiotic gene conversion |
| BP | IBA | GO:0006312 | mitotic recombination |
| BP | IBA | GO:0007050 | cell cycle arrest |
| BP | IEA | GO:0007050 | cell cycle arrest |
| BP | IBA | GO:0007281 | germ cell development |
| BP | IEA | GO:0007281 | germ cell development |
| BP | IBA | GO:0007283 | spermatogenesis |
| BP | IBA | GO:0008340 | determination of adult lifespan |
| BP | IEA | GO:0008340 | determination of adult lifespan |
| BP | IBA | GO:0008584 | male gonad development |
| BP | ISS | GO:0008584 | male gonad development |
| BP | IBA | GO:0010165 | response to X-ray |
| BP | ISS | GO:0010165 | response to X-ray |
| BP | IBA | GO:0010224 | response to UV-B |
| BP | ISS | GO:0010224 | response to UV-B |
| BP | IBA | GO:0016446 | somatic hypermutation of immunoglobulin genes |
| BP | ISS | GO:0016447 | somatic recombination of immunoglobulin gene segments |
| BP | ISS | GO:0019724 | B cell mediated immunity |
| BP | IBA | GO:0030183 | B cell differentiation |
| BP | ISS | GO:0030183 | B cell differentiation |
| BP | IBA | GO:0031573 | intra-S DNA damage checkpoint |
| BP | IBA | GO:0036297 | interstrand cross-link repair |
| BP | IBA | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
| BP | IBA | GO:0043111 | replication fork arrest |
| BP | IBA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | ISS | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IBA | GO:0043570 | maintenance of DNA repeat elements |
| BP | IMP | GO:0043570 | maintenance of DNA repeat elements |
| BP | IBA | GO:0045128 | negative regulation of reciprocal meiotic recombination |
| BP | IBA | GO:0045190 | isotype switching |
| BP | ISS | GO:0045190 | isotype switching |
| BP | IDA | GO:0045910 | negative regulation of DNA recombination |
| BP | ISS | GO:0045910 | negative regulation of DNA recombination |
| BP | IBA | GO:0048298 | positive regulation of isotype switching to IgA isotypes |
| BP | IEA | GO:0048298 | positive regulation of isotype switching to IgA isotypes |
| BP | IBA | GO:0048304 | positive regulation of isotype switching to IgG isotypes |
| BP | IEA | GO:0048304 | positive regulation of isotype switching to IgG isotypes |
| BP | IBA | GO:0051096 | positive regulation of helicase activity |
| BP | IDA | GO:0051096 | positive regulation of helicase activity |
Gene expression in normal tissue: MSH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MSH2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5358508 | Mismatch Repair |
| reactome | R-HSA-5358508 | Mismatch Repair |
| reactome | R-HSA-5358565 | Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) |
| reactome | R-HSA-5358606 | Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) |
| reactome | R-HSA-5358606 | Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) |
| reactome | R-HSA-5423599 | Diseases of Mismatch Repair (MMR) |
| reactome | R-HSA-5632927 | Defective Mismatch Repair Associated With MSH3 |
| reactome | R-HSA-5632928 | Defective Mismatch Repair Associated With MSH2 |
| reactome | R-HSA-5632968 | Defective Mismatch Repair Associated With MSH6 |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| wikipathways | WP3303 | Rac1-Pak1-p38-MMP-2 pathway |
| wikipathways | WP3808 | TP53 Regulates Transcription of DNA Repair Genes |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP531 | Mismatch repair |
| pharmgkb | PA165292163 | Doxorubicin Pathway (Cancer Cell), Pharmacodynamics |
| pharmgkb | PA165374494 | Busulfan Pathway, Pharmacodynamics |
| pid | p53downstreampathway | Direct p53 effectors |
| kegg | hsa03430 | Mismatch repair - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05210 | Colorectal cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD60 | Quinoclamine | 1 |
| iGMDRD371 | THR1 Inhibitor | 1 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD441 | TW 37 | 2 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD885 | Compound 110 | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD802 | 4-methylfasudil | 5 |
| iGMDRD401 | Afatinib | 1 |
| iGMDRD280 | CYTOCHALASIN B | 7 |
| iGMDRD673 | LSM-1215 | 1 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD193 | Fqi1 | 4 |
| iGMDRD144 | NSC95397 | 1 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD42 | Vorinostat | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD434 | BMS-536924 | 1 |
| iGMDRD481 | Dactolisib | 5 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD499 | PDMP | 2 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD607 | Ubistatin B | 1 |
| iGMDRD369 | TGX-115 | 1 |
| iGMDRD64 | Parbendazole | 4 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD74 | Idarubicin | 1 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD941 | MEDI0680 | 1 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD394 | BX-795 | 5 |
| iGMDRD679 | Bistramide A | 2 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD283 | Bosutinib | 1 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD484 | Pluripotin | 2 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD12 | Bicalutamide | 1 |
| iGMDRD871 | BRD6368 | 1 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD202 | Curcumin | 2 |
| iGMDRD123 | Isoevodiamine | 4 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD237 | ABT-751 | 4 |
| iGMDRD532 | Olaparib | 3 |
| iGMDRD560 | MK-2206 | 5 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD405 | PIK-75 | 1 |
| iGMDRD942 | MEDI4736 | 1 |
| iGMDRD584 | VER 155008 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MSH2
CLASSFICATION
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