MSH6
Summary: This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutS homolog 6 | MIM:600678 | Ensembl:ENSG00000116062 | HGNC:HGNC:7329 | PA184 | 2p16.3 |
GO terms in MSH6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| 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 | IEA | GO:0003682 | chromatin binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003690 | double-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 | IBA | GO:0008094 | DNA-dependent ATPase activity |
| MF | IDA | GO:0016887 | ATPase activity |
| MF | IBA | GO:0030983 | mismatched DNA binding |
| MF | IDA | 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 | IBA | GO:0032138 | single base insertion or deletion 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 | IDA | GO:0032357 | oxidized purine DNA binding |
| MF | IBA | GO:0032405 | MutLalpha complex binding |
| MF | IDA | GO:0032405 | MutLalpha complex binding |
| MF | IBA | GO:0035064 | methylated histone binding |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0043531 | ADP binding |
| MF | IDA | GO:0043531 | ADP binding |
| BP | IBA | GO:0000710 | meiotic mismatch repair |
| BP | ISS | GO:0000710 | meiotic mismatch repair |
| 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 | IMP | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | IBA | GO:0007095 | mitotic G2 DNA damage checkpoint |
| BP | IBA | GO:0008340 | determination of adult lifespan |
| BP | ISS | GO:0008340 | determination of adult lifespan |
| BP | IBA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | ISS | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IBA | GO:0009411 | response to UV |
| BP | ISS | GO:0009411 | response to UV |
| BP | IEA | GO:0016032 | viral process |
| BP | IBA | GO:0016446 | somatic hypermutation of immunoglobulin genes |
| BP | ISS | GO:0016446 | somatic hypermutation of immunoglobulin genes |
| BP | ISS | GO:0016447 | somatic recombination of immunoglobulin gene segments |
| BP | IBA | GO:0030890 | positive regulation of B cell proliferation |
| BP | IBA | GO:0032876 | negative regulation of DNA endoreduplication |
| BP | IBA | GO:0036297 | interstrand cross-link repair |
| BP | IBA | GO:0043111 | replication fork arrest |
| BP | IBA | GO:0043570 | maintenance of DNA repeat elements |
| BP | IMP | GO:0043570 | maintenance of DNA repeat elements |
| BP | IBA | GO:0045190 | isotype switching |
| BP | ISS | GO:0045190 | isotype switching |
| BP | IBA | GO:0045830 | positive regulation of isotype switching |
| BP | IEA | GO:0045830 | positive regulation of isotype switching |
| BP | IBA | GO:0045910 | negative regulation of DNA recombination |
| BP | IDA | GO:0045910 | negative regulation of DNA recombination |
| BP | IBA | GO:0051096 | positive regulation of helicase activity |
| BP | IDA | GO:0051096 | positive regulation of helicase activity |
| BP | ISS | GO:0097193 | intrinsic apoptotic signaling pathway |
| CC | IEA | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IBA | GO:0032300 | mismatch repair complex |
| CC | IBA | GO:0032301 | MutSalpha complex |
| CC | IDA | GO:0032301 | MutSalpha complex |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
Gene expression in normal tissue: MSH6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MSH6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-5358508 | Mismatch Repair |
| reactome | R-HSA-5358565 | Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) |
| reactome | R-HSA-5423599 | Diseases of Mismatch Repair (MMR) |
| reactome | R-HSA-5632928 | Defective Mismatch Repair Associated With MSH2 |
| reactome | R-HSA-5632968 | Defective Mismatch Repair Associated With MSH6 |
| reactome | R-HSA-73894 | DNA Repair |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP531 | Mismatch repair |
| 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. |
|---|---|---|
| iGMDRD49 | Mitomycin | 1 |
| iGMDRD703 | KPT185 | 1 |
| iGMDRD532 | Olaparib | 1 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD329 | Merck60 | 1 |
| iGMDRD286 | Nsc 632839 | 4 |
| iGMDRD526 | KX2-391 | 1 |
| iGMDRD156 | HLI-373 | 1 |
| iGMDRD706 | BRD-K13999467 | 1 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD705 | Nakiterpiosin | 4 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD283 | Bosutinib | 1 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD1038 | X3.Cl.AHPC | 1 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD641 | SCH 79797 | 1 |
| iGMDRD74 | Idarubicin | 4 |
| iGMDRD323 | Leptomycin B | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD106 | Clofarabine | 1 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD117 | Docetaxel | 1 |
| iGMDRD284 | Palbociclib | 1 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD750 | TRIAZOLOTHIADIAZINE | 1 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD798 | Ceranib-2 | 1 |
| iGMDRD250 | IPR-456 | 1 |
| iGMDRD256 | NVP-231 | 1 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD141 | NSC48300 | 1 |
| iGMDRD646 | PHA-793887 | 1 |
| iGMDRD353 | PD0325901 | 2 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD300 | Tozasertib | 4 |
| iGMDRD479 | Veliparib | 1 |
| iGMDRD208 | Necrosulfonamide | 1 |
| iGMDRD271 | Brefeldin A | 1 |
| iGMDRD504 | Obatoclax | 1 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD78 | Topotecan | 1 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD348 | BMS-345541 | 1 |
| iGMDRD1008 | SR-II-138A | 1 |
| iGMDRD313 | Axitinib | 1 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD609 | BRD-K66453893 | 1 |
| iGMDRD145 | Omacetaxine mepesuccinate | 1 |
| iGMDRD60 | Quinoclamine | 4 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD573 | GSK-1904529A | 1 |
| iGMDRD219 | Bax channel blocker | 3 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD540 | Alisertib | 1 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD123 | Isoevodiamine | 4 |
| iGMDRD942 | MEDI4736 | 1 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD681 | SB-743921 | 1 |
| iGMDRD445 | Barasertib | 1 |
| iGMDRD87 | Epigallocatechin-3-monogallate | 1 |
| iGMDRD871 | BRD6368 | 1 |
| iGMDRD664 | Dinaciclib | 1 |
| iGMDRD552 | AZD-1775 | 1 |
| iGMDRD439 | KW-2449 | 1 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD103 | SN-38 | 1 |
| iGMDRD244 | ML311 | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD890 | CR.1.31B | 1 |
| iGMDRD639 | YK 4-279 | 1 |
| iGMDRD358 | Semagacestat | 1 |
| iGMDRD273 | Alvocidib | 1 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD397 | Pazopanib | 1 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD730 | Kahalalide F | 3 |
| iGMDRD602 | Foretinib | 1 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD260 | FQI-2 | 4 |
| iGMDRD848 | BRD-K28456706 | 1 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD941 | MEDI0680 | 1 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD843 | BRD-A86708339 | 1 |
| iGMDRD435 | BI-2536 | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD125 | BIRB-796 | 1 |
| iGMDRD116 | CD437 | 1 |
| iGMDRD477 | AT13387 | 1 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD157 | Ouabain | 1 |
| iGMDRD434 | BMS-536924 | 5 |
| iGMDRD528 | rigosertib | 1 |
| iGMDRD446 | LY 2183240 | 8 |
| iGMDRD591 | PF-3758309 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD857 | BRD-K70511574 | 1 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD708 | BRD-K63431240 | 1 |
| iGMDRD489 | GSK-461364 | 1 |
| iGMDRD462 | OSI-906 (Linsitinib) | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD100 | Zebularine | 7 |
| iGMDRD451 | Serdemetan | 1 |
| iGMDRD444 | Tivantinib | 1 |
| iGMDRD640 | CAY10618 | 1 |
| iGMDRD533 | HSCI1_000270 | 1 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MSH6
CLASSFICATION
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