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 81 - 90 of 150 in total
DO ID Disease Name Source
DOID:3829 pituitary adenoma
DOID:3852 Peutz-Jeghers syndrome
DOID:3883 Lynch syndrome
DOID:3904 bronchus carcinoma
DOID:3905 lung carcinoma
DOID:3908 lung non-small cell carcinoma
DOID:3948 adrenocortical carcinoma
DOID:3950 adrenal carcinoma
DOID:3963 thyroid gland carcinoma
DOID:4007 bladder carcinoma
The Human Phenotype Ontology
Displaying entries 21 - 30 of 61 in total
HPO ID HPO Term
HP:0002027 Abdominal pain
HP:0002076 Migraine
HP:0002167 Abnormality of speech or vocalization
HP:0002239 Gastrointestinal hemorrhage
HP:0002354 Memory impairment
HP:0002376 Developmental regression
HP:0002516 Increased intracranial pressure
HP:0002671 Basal cell carcinoma
HP:0002893 Pituitary adenoma
HP:0002894 Neoplasm of the pancreas
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