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 |
|---|---|---|---|---|---|
NamemutS homolog 6 OMIM IDMIM:600678 Ensembl IDEnsembl:ENSG00000116062 HGNC IDHGNC:HGNC:7329 PHARMGKB IDPA184 Map Location2p16.3 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MSH6
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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