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Aliases for MUTYH Gene

Aliases for MUTYH Gene

  • MutY DNA Glycosylase 2 3 5
  • MutY Homolog 3 4
  • MYH 3 4
  • A/G-Specific Adenine DNA Glycosylase 3
  • Adenine DNA Glycosylase 3
  • MutY Homolog (E. Coli) 2
  • MutY-Like Protein 3
  • EC 3.2.2.- 4
  • EC 3.2.2 56
  • HMYH 4

External Ids for MUTYH Gene

Previous GeneCards Identifiers for MUTYH Gene

  • GC01M045522
  • GC01M044795
  • GC01M045224
  • GC01M045208
  • GC01M045464
  • GC01M045567
  • GC01M045794
  • GC01M043906

Summaries for MUTYH Gene

Entrez Gene Summary for MUTYH Gene

  • 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]

GeneCards Summary for MUTYH Gene

MUTYH (MutY DNA Glycosylase) is a Protein Coding gene. Diseases associated with MUTYH include Familial Adenomatous Polyposis 2 and Pilomatrixoma. 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.

UniProtKB/Swiss-Prot for MUTYH Gene

  • Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.

Gene Wiki entry for MUTYH Gene

Additional gene information for MUTYH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUTYH Gene

Genomics for MUTYH Gene

GeneHancer (GH) Regulatory Elements for MUTYH Gene

Promoters and enhancers for MUTYH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I045334 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 560.7 +2.2 2197 7.9 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 TOE1 MUTYH GPBP1L1 LRRC41 RPL7AP16 HECTD3 PRDX1 MMACHC CCDC163 TESK2
GH01I044774 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 54.7 +564.3 564252 3.7 ZFP64 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 MCM3 SP3 RPS8 ENSG00000225721 GC01P044811 GC01P044822 GC01P044828 GC01P044830 GC01P044831 GC01P044833 SNORD38A SNORD46
GH01I045520 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 54 -181.4 -181380 3.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 PRDX1 CCDC163 TOE1 LRRC41 MUTYH GPBP1L1 RPS8 RPL7AP16 NASP ZSWIM5
GH01I045582 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 43 -244.4 -244379 5.4 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 GC01M045583 NASP GPBP1L1 TOE1 LRRC41 RPL7AP16 MUTYH CCDC163 HECTD3 RPS8
GH01I044720 Enhancer 1.5 Ensembl ENCODE dbSUPER 46.2 +617.7 617666 4.8 MLX ZFP64 FEZF1 YBX1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC GC01M044722 LOC105378690 RNU5F-1 TOE1 GPBP1L1 RPS8 RPL7AP16 MUTYH HECTD3 DMAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUTYH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUTYH gene promoter:

Genomic Locations for MUTYH Gene

Genomic Locations for MUTYH Gene
11,308 bases
Minus strand

Genomic View for MUTYH Gene

Genes around MUTYH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUTYH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUTYH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUTYH Gene

Proteins for MUTYH Gene

  • Protein details for MUTYH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Adenine DNA glycosylase
    Protein Accession:
    Secondary Accessions:
    • D3DPZ4
    • Q15830
    • Q9UBP2
    • Q9UBS7
    • Q9UIF4
    • Q9UIF5
    • Q9UIF6

    Protein attributes for MUTYH Gene

    546 amino acids
    Molecular mass:
    60069 Da
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    No Data Available
    • Sequence=BAA89339.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA89339.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAA89345.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA89345.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MUTYH Gene

    Alternative splice isoforms for MUTYH Gene

neXtProt entry for MUTYH Gene

Selected DME Specific Peptides for MUTYH Gene


Post-translational modifications for MUTYH Gene

  • Ubiquitination at Lys189 and isoforms=2, 3, 4, 5, 6506
  • Modification sites at PhosphoSitePlus

Domains & Families for MUTYH Gene

Gene Families for MUTYH Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Nth/MutY family.
  • Belongs to the Nth/MutY family.
genes like me logo Genes that share domains with MUTYH: view

Function for MUTYH Gene

Molecular function for MUTYH Gene

GENATLAS Biochemistry:
mutY E coli homolog,involved in the repair of oxidative DNA damage
UniProtKB/Swiss-Prot Function:
Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.

Enzyme Numbers (IUBMB) for MUTYH Gene

Phenotypes From GWAS Catalog for MUTYH Gene

Gene Ontology (GO) - Molecular Function for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity IMP 20848659
GO:0003677 DNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 11801590
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MUTYH: view
genes like me logo Genes that share phenotypes with MUTYH: view

Human Phenotype Ontology for MUTYH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MUTYH Gene

MGI Knock Outs for MUTYH:

Animal Model Products

CRISPR Products

miRNA for MUTYH Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MUTYH Gene

Localization for MUTYH Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUTYH Gene

Nucleus. Mitochondrion.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUTYH gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with MUTYH: view

Pathways & Interactions for MUTYH Gene

genes like me logo Genes that share pathways with MUTYH: view

Pathways by source for MUTYH Gene

1 Cell Signaling Technology pathway for MUTYH Gene

SIGNOR curated interactions for MUTYH Gene


Gene Ontology (GO) - Biological Process for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,TAS 8682794
GO:0006284 base-excision repair IEA --
GO:0006298 mismatch repair TAS 7823963
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MUTYH: view

Drugs & Compounds for MUTYH Gene

(5) Drugs for MUTYH Gene - From: PharmGKB and Novoseek

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 2906
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113

(7) Additional Compounds for MUTYH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUTYH: view

Transcripts for MUTYH Gene

Unigene Clusters for MUTYH Gene

MutY homolog (E. coli):
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUTYH Gene

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
SP2: -
SP3: -
SP7: -
SP8: -
SP9: -

Relevant External Links for MUTYH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MUTYH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUTYH Gene

Protein differential expression in normal tissues from HIPED for MUTYH Gene

This gene is overexpressed in Urinary Bladder (23.8), Colon (19.7), Rectum (9.8), CD4 Tcells (8.7), and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MUTYH Gene

Protein tissue co-expression partners for MUTYH Gene

NURSA nuclear receptor signaling pathways regulating expression of MUTYH Gene:


SOURCE GeneReport for Unigene cluster for MUTYH Gene:


Evidence on tissue expression from TISSUES for MUTYH Gene

  • Kidney(4.3)
  • Intestine(3.1)
  • Nervous system(2.8)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MUTYH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • digestive
  • integumentary
  • intestine
  • large intestine
  • stomach
  • hair
  • skin
genes like me logo Genes that share expression patterns with MUTYH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MUTYH Gene

Orthologs for MUTYH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MUTYH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MUTYH 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia MUTYH 33 34
  • 86.03 (n)
(Canis familiaris)
Mammalia MUTYH 33 34
  • 84.65 (n)
(Mus musculus)
Mammalia Mutyh 33 16 34
  • 81.72 (n)
(Rattus norvegicus)
Mammalia Mutyh 33
  • 81.62 (n)
(Monodelphis domestica)
Mammalia MUTYH 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia MUTYH 34
  • 64 (a)
(Gallus gallus)
Aves MUTYH 33 34
  • 64.06 (n)
(Anolis carolinensis)
Reptilia MUTYH 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mutyh 33
  • 57.81 (n)
(Danio rerio)
Actinopterygii mutyh 33 34
  • 55.48 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12740 33
  • 55.1 (n)
(Oryza sativa)
Liliopsida Os12g0211400 33
  • 52.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myh1 33
  • 46.67 (n)
Species where no ortholog for MUTYH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUTYH Gene

Gene Tree for MUTYH (if available)
Gene Tree for MUTYH (if available)

Paralogs for MUTYH Gene

No data available for Paralogs for MUTYH Gene

Variants for MUTYH Gene

Sequence variations from dbSNP and Humsavar for MUTYH Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000260695 likely-benign, MYH-associated polyposis, Hereditary cancer-predisposing syndrome 45,329,414(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1003387951 likely-benign, uncertain-significance, MYH-associated polyposis, Hereditary cancer-predisposing syndrome 45,333,329(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1026586859 likely-benign, Hereditary cancer-predisposing syndrome 45,332,766(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1052489573 likely-benign, MYH-associated polyposis 45,332,911(-) C/T intron_variant
rs1057517456 likely-pathogenic, MYH-associated polyposis 45,331,769(-) T/ coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MUTYH Gene

Variant ID Type Subtype PubMed ID
esv1314250 CNV insertion 17803354
esv2750837 CNV loss 17911159
nsv1133024 OTHER inversion 24896259

Variation tolerance for MUTYH Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.69; 82.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUTYH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUTYH Gene

Disorders for MUTYH Gene

MalaCards: The human disease database

(26) MalaCards diseases for MUTYH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
familial adenomatous polyposis 2
  • fap2
  • pilomatricoma; ptr
gastric cancer
  • gastric cancer, somatic
mutyh-associated polyposis
  • colorectal adenomatous polyposis, autosomal recessive
familial adenomatous polyposis
  • fap
- elite association - COSMIC cancer census association via MalaCards
Search MUTYH in MalaCards View complete list of genes associated with diseases


  • Familial adenomatous polyposis 2 (FAP2) [MIM:608456]: A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269 PubMed:11818965, ECO:0000269 PubMed:12606733, ECO:0000269 PubMed:12853198, ECO:0000269 PubMed:15366000, ECO:0000269 PubMed:16134147, ECO:0000269 PubMed:16287072, ECO:0000269 PubMed:16557584, ECO:0000269 PubMed:16941501, ECO:0000269 PubMed:18091433, ECO:0000269 PubMed:18515411, ECO:0000269 PubMed:19953527, ECO:0000269 PubMed:20418187, ECO:0000269 PubMed:20848659, ECO:0000269 PubMed:25820570, ECO:0000269 PubMed:26694661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gastric cancer (GASC) [MIM:613659]: 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. {ECO:0000269 PubMed:15273732, ECO:0000269 PubMed:25820570}. Note=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). {ECO:0000269 PubMed:15273732}.

Additional Disease Information for MUTYH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUTYH: view

No data available for Genatlas for MUTYH Gene

Publications for MUTYH Gene

  1. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PMID: 18515411) Dallosso AR … Sampson JR (Gut 2008) 3 4 22 44 58
  2. Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (PMID: 18091433) Cattaneo F … Ranzani GN (Genetics in medicine : official journal of the American College of Medical Genetics 2007) 3 4 22 44 58
  3. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. (PMID: 16287072) Russell AM … Heinimann K (International journal of cancer 2006) 3 4 22 44 58
  4. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. (PMID: 15366000) Isidro G … Boavida MG (Human mutation 2004) 3 4 22 44 58
  5. Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria. (PMID: 10684930) Ohtsubo T … Nakabeppu Y (Nucleic acids research 2000) 2 3 4 22 58

Products for MUTYH Gene

Sources for MUTYH Gene