MSH5
Summary: This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mutS homolog 5 | MIM:603382 | Ensembl:ENSG00000204410 | HGNC:HGNC:7328 | PA31136 | 6p21.33 |
Gene Categories:
DNA REPAIRGO terms in MSH5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0000712 | resolution of meiotic recombination intermediates |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | IBA | GO:0007131 | reciprocal meiotic recombination |
| BP | IBA | GO:0007292 | female gamete generation |
| BP | IBA | GO:0045143 | homologous chromosome segregation |
| BP | IBA | GO:0051026 | chiasma assembly |
| CC | IBA | GO:0000228 | nuclear chromosome |
| CC | IBA | GO:0000795 | synaptonemal complex |
| CC | IBA | GO:0032300 | mismatch repair complex |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0008094 | DNA-dependent ATPase activity |
| MF | IBA | GO:0030983 | mismatched DNA binding |
Gene expression in normal tissue: MSH5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MSH5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-912446 | Meiotic recombination |
| wikipathways | WP34 | Ovarian Infertility Genes |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD499 | PDMP | 3 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD883 | CIL55A | 1 |
| iGMDRD483 | SCH-529074 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MSH5
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