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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
mutY DNA glycosylaseMIM:604933Ensembl:ENSG00000132781HGNC:HGNC:7527PA313281p34.1

GO terms in MUTYH


Term TypeEvidence TypeGO Term IDGO Des.
BPIBAGO:0006281DNA repair
BPTASGO:0006281DNA repair
BPIBAGO:0006284base-excision repair
BPIBAGO:0006298mismatch repair
BPTASGO:0006298mismatch repair
BPTASGO:0045007depurination
CCIBAGO:0005634nucleus
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIEAGO:0005739mitochondrion
MFIBAGO:0000701purine-specific mismatch base pair DNA N-glycosylase activity
MFIMPGO:0000701purine-specific mismatch base pair DNA N-glycosylase activity
MFIEAGO:0003677DNA binding
MFIPIGO:0005515protein binding
MFTASGO:0019104DNA N-glycosylase activity
MFIBAGO:0032357oxidized purine DNA binding
MFIDAGO:0032405MutLalpha complex binding
MFIDAGO:0032406MutLbeta complex binding
MFIDAGO:0032407MutSalpha complex binding
MFIDAGO:0032408MutSbeta complex binding
MFIBAGO:00340398-oxo-7,8-dihydroguanine DNA N-glycosylase activity
MFIBAGO:0035485adenine/guanine mispair binding
MFIEAGO:0046872metal ion binding
MFIEAGO:00515394 iron, 4 sulfur cluster binding

Gene expression in normal tissue: MUTYH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in MUTYH


DatabasePathway IDPathway Des.
kegghsa03410Base excision repair - Homo sapiens (human)
reactomeR-HSA-110330Recognition and association of DNA glycosylase with site containing an affected purine
reactomeR-HSA-110331Cleavage of the damaged purine
reactomeR-HSA-110357Displacement of DNA glycosylase by APEX1
reactomeR-HSA-73884Base Excision Repair
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-73927Depurination
reactomeR-HSA-73929Base-Excision Repair, AP Site Formation
reactomeR-HSA-73933Resolution of Abasic Sites (AP sites)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD698Neratinib4
iGMDRD152179324-69-71
iGMDRD341Triacsin c3
iGMDRD71Sparfosic acid2
iGMDRD579PF7503
iGMDRD126Tipifarnib3
iGMDRD494Neopeltolide3
iGMDRD188Piperlongumine1
iGMDRD67PENFLURIDOL6
iGMDRD322FK 8663
iGMDRD886Compound 1541A3
iGMDRD505Pevonedistat3
iGMDRD121GMX17783
iGMDRD474Avrainvillamide1
iGMDRD271Brefeldin A3
iGMDRD441TW 371
iGMDRD221Tamoxifen3
iGMDRD6AM-5802
iGMDRD171Pemetrexed3
iGMDRD782DC-45-A23

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MUTYH

​​​​