MUTYH
Summary: This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604933 Ensembl IDEnsembl:ENSG00000132781 HGNC IDHGNC:HGNC:7527 PHARMGKB IDPA31328 Map Location1p34.1 | |||||
GO terms in MUTYH
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | TAS | GO:0006298 | mismatch repair |
| BP | TAS | GO:0045007 | depurination |
Gene expression in normal tissue: MUTYH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MUTYH
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03410 | Base excision repair - Homo sapiens (human) |
| reactome | R-HSA-110330 | Recognition and association of DNA glycosylase with site containing an affected purine |
| reactome | R-HSA-110331 | Cleavage of the damaged purine |
| reactome | R-HSA-110357 | Displacement of DNA glycosylase by APEX1 |
| reactome | R-HSA-73884 | Base Excision Repair |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MUTYH
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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