mutY DNA glycosylase

Summary
Gene Symbol
  • MUTYH
Aliases
  • MYH
Organism
Homo sapiens (human)
External Links
NCBI Gene
4595
HGNC
7527
PubChem
4595
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • 4Fe-4S
  • Alternative splicing
  • DNA repair
  • Disease variant
  • Glycosidase
  • Mitochondrion
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Tumor suppressor
Proteins
Displaying all 6 entries
UniProt Protein Name
E5KP28
E5KP26
E5KP27
E9PM53
Q9UIF7
  • MutY homolog
E5KP25
Gene Ontology (GO)
GO Hierarchy
Displaying entries 11 - 12 of 12 in total
GO Term Evidence Code PMID
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity
oxidized purine DNA binding
GO Hierarchy
Disease
Disease Ontology
Displaying entries 51 - 60 of 150 in total
DO ID Disease Name Source
DOID:1984 rectal benign neoplasm
DOID:1993 rectum cancer
DOID:1996 rectum adenocarcinoma
DOID:2007 degeneration of macula and posterior pole
DOID:219 colon cancer
DOID:2226 myeloproliferative neoplasm
DOID:2326 gastroenteritis
DOID:234 colon adenocarcinoma
DOID:235 colonic benign neoplasm
DOID:2394 ovarian cancer
The Human Phenotype Ontology
Displaying entries 51 - 60 of 61 in total
HPO ID HPO Term
HP:0100031 Neoplasm of the thyroid gland
HP:0100245 Desmoid tumors
HP:0100273 Neoplasm of the colon
HP:0100571 Cardiac diverticulum
HP:0100576 Amaurosis fugax
HP:0100615 Ovarian neoplasm
HP:0100660 Dyskinesia
HP:0100743 Neoplasm of the rectum
HP:0100835 Benign neoplasm of the central nervous system
HP:0100896 Rectal polyposis
Displaying all 4 entries
Disease ID Disease Name
OMIM:613659
  • gastric cancer
ORPHA:440437
  • familial colorectal cancer type X
ORPHA:247798
  • familial adenomatous polyposis 2
OMIM:608456
  • familial adenomatous polyposis 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024