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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NamemutS homolog 2 OMIM IDMIM:609309 Ensembl IDEnsembl:ENSG00000095002 HGNC IDHGNC:HGNC:7325 PHARMGKB IDPA31133 Map Location2p21-p16.3 | |||||
GO terms in MSH2
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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 |
Gene expression in normal tissue: MSH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MSH2
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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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MSH2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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