Entity Details

Primary name MUTYH
Entity type gene
Source Source Link

Details

PrimaryID4595
RefseqGeneNG_008189
SymbolMUTYH
NamemutY DNA glycosylase
Chromosome1
Location1p34.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMUTYH_HUMAN

GO terms

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GOName
GO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0006281 DNA repair
GO:0006284 base-excision repair
GO:0006287 base-excision repair, gap-filling
GO:0006298 mismatch repair
GO:0032357 oxidized purine DNA binding
GO:0032407 MutSalpha complex binding
GO:0034039 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity
GO:0035485 adenine/guanine mispair binding
GO:0045007 depurination
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding

Diseases

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Disease IDSourceNameDescription
608456 OMIMFamilial adenomatous polyposis 2 (FAP2)A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. The disease is caused by variants affecting the gene represented in this entry.
613659 OMIMGastric cancer (GASC)A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732).