Free for academic non-profit institutions. Other users need a Commercial license
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]
MUTYH (MutY DNA Glycosylase) is a Protein Coding gene. Diseases associated with MUTYH include Familial Adenomatous Polyposis 2 and Gastric Cancer. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Depurination. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on glycosyl bonds. An important paralog of this gene is ENSG00000288208.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000701 | purine-specific mismatch base pair DNA N-glycosylase activity | IBA,IMP | 20848659 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 11801590 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005739 | mitochondrion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Telomere C-strand (Lagging Strand) Synthesis | ||
2 | Depurination | ||
3 | DNA Damage | ||
4 | DNA Double-Strand Break Repair |
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA,IBA | 21873635 |
GO:0006284 | base-excision repair | IEA,IBA | 21873635 |
GO:0006298 | mismatch repair | IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0008152 | metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | · | 12c | · | 12d | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MUTYH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MUTYH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MUTYH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mutyh 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mutyh 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MUTYH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MUTYH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MUTYH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MUTYH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mutyh 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mutyh 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G12740 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0211400 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | myh1 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
216871 | Uncertain Significance: MYH-associated polyposis; Hereditary cancer-predisposing syndrome | 45,330,532(-) | TGTTG/CAACA | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
433933 | Uncertain Significance: Hereditary cancer-predisposing syndrome | 45,332,308(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
464717 | Pathogenic: MYH-associated polyposis | 45,332,596(-) | ATGGCCCCAGCTGTGT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON_VARIANT | |
631250 | Uncertain Significance: Hereditary cancer-predisposing syndrome | 45,332,026(-) | ACTC/A | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
639290 | Uncertain Significance: MYH-associated polyposis | 45,333,108(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1314250 | CNV | insertion | 17803354 |
esv2750837 | CNV | loss | 17911159 |
nsv1133024 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial adenomatous polyposis 2 |
|
|
gastric cancer |
|
|
myh-associated polyposis |
|
|
mutyh polyposis |
|
|
pilomatrixoma |
|