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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

HGNC:7527

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
mismatch repair	IBA
negative regulation of necroptotic process	IEA
base-excision repair	IBA
DNA repair	TAS	8682794
depurination	TAS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule modification [inference]

DNA modification [inference]

depurination

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

regulation of cellular process [inference]

regulation of programmed cell death [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

regulation of programmed necrotic cell death [inference]

regulation of necroptotic process [inference]

negative regulation of necroptotic process

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
nucleus	IBA
mitochondrion	IEA
nucleoplasm	IDA TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying entries **11 - 12** of 12 in total

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GO Term	Evidence Code	PMID
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA
oxidized purine DNA binding	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing N-glycosyl compounds [inference]

DNA N-glycosylase activity

mismatch base pair DNA N-glycosylase activity [inference]

purine-specific mismatch base pair DNA N-glycosylase activity

oxidized base lesion DNA N-glycosylase activity [inference]

oxidized purine nucleobase lesion DNA N-glycosylase activity [inference]

8-oxo-7,8-dihydroguanine DNA N-glycosylase activity

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

DNA N-glycosylase activity

mismatch base pair DNA N-glycosylase activity [inference]

purine-specific mismatch base pair DNA N-glycosylase activity

oxidized base lesion DNA N-glycosylase activity [inference]

oxidized purine nucleobase lesion DNA N-glycosylase activity [inference]

8-oxo-7,8-dihydroguanine DNA N-glycosylase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

protein-containing complex binding [inference]

mismatch repair complex binding [inference]

metal cluster binding [inference]

iron-sulfur cluster binding [inference]

4 iron, 4 sulfur cluster binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

damaged DNA binding [inference]

oxidized DNA binding [inference]

oxidized purine DNA binding

double-stranded DNA binding [inference]

mismatched DNA binding [inference]

adenine/guanine mispair binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying entries **1 - 10** of **150** in total

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DO ID	Disease Name	Source
DOID:0050424	familial adenomatous polyposis	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050638	transthyretin amyloidosis	DisGeNET
DOID:0050646	distal arthrogryposis	DisGeNET
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome	DisGeNET
DOID:0050757	deafness-dystonia-optic neuronopathy syndrome	DisGeNET
DOID:0050787	juvenile polyposis syndrome	DisGeNET
DOID:0060389	chromosome 10q23 deletion syndrome	DisGeNET
DOID:0080144	childhood acute lymphocytic leukemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 61 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000737	Irritability
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0001123	Visual field defect
HP:0001250	Seizure
HP:0001252	Hypotonia

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

PubChem Disease

GHR Health Conditions

Familial adenomatous polyposis

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **41 - 50** of 63 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Bos indicus x Bos taurus	113889965		BOBOX07546
Microcebus murinus	105877457		MICMU04257
Otolemur garnettii	100965263		OTOGA02361
Takifugu rubripes	101076441		TAKRU26759
Aotus nancymaae	105705098		AOTNA11581
Phascolarctos cinereus	110209274		PHACI16211
Saimiri boliviensis boliviensis	101028546		SAIBB27576
Seriola dumerili	111232084		SERDU20514
Ictidomys tridecemlineatus	101968388		ICTTR09141
Poecilia formosa	103142549		POEFO09845

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Acknowledgements

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Last updated: August 19, 2024