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 s... See more...

Aliases for MUTYH Gene

Aliases for MUTYH Gene

  • MutY DNA Glycosylase 2 3 5
  • Adenine DNA Glycosylase 3 4
  • MutY Homolog 3 4
  • MYH 3 4
  • A/G-Specific Adenine DNA Glycosylase 3
  • MutY Homolog (E. Coli) 2
  • MutY-Like Protein 3
  • HSALNG0003240 167
  • Lnc-TESK2-2 168
  • EC 3.2.2.31 4
  • EC 3.2.2 52
  • 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 Gastric Cancer. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and DNA Damage. 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.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MUTYH Gene

Genomics for MUTYH Gene

GeneHancer (GH) Regulatory Elements for MUTYH Gene

Promoters and enhancers for MUTYH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUTYH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUTYH

Top Transcription factor binding sites by QIAGEN in the MUTYH gene promoter:
  • E2F-4
  • E2F-5
  • Evi-1
  • FOXO4
  • HEN1

Genomic Locations for MUTYH Gene

Genomic Locations for MUTYH Gene
chr1:45,329,163-45,340,893
(GRCh38/hg38)
Size:
11,731 bases
Orientation:
Minus strand
chr1:45,794,835-45,806,142
(GRCh37/hg19)
Size:
11,308 bases
Orientation:
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:
    Q9UIF7-MUTYH_HUMAN
    Recommended name:
    Adenine DNA glycosylase
    Protein Accession:
    Q9UIF7
    Secondary Accessions:
    • D3DPZ4
    • Q15830
    • Q9UBP2
    • Q9UBS7
    • Q9UIF4
    • Q9UIF5
    • Q9UIF6

    Protein attributes for MUTYH Gene

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

Q9UIF7:
  • MLQQTQV
  • RPGDFNQA

Post-translational modifications for MUTYH Gene

  • Ubiquitination at Lys189 and Lys506
  • Modification sites at PhosphoSitePlus

Domains & Families for MUTYH Gene

Gene Families for MUTYH Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MUTYH Gene

GenScript: Design optimal peptide antigens:
  • MutY homolog (E. coli), isoform CRA_f (D3DPZ6_HUMAN)
  • MutY homolog (E. coli), isoform CRA_e (E5KP26_HUMAN)
  • MutY homolog (E. coli), isoform CRA_d (E5KP27_HUMAN)
  • MutY homolog (E. coli), isoform CRA_b (E5KP28_HUMAN)
  • MutY homolog (MUTYH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UIF7

UniProtKB/Swiss-Prot:

MUTYH_HUMAN :
  • Belongs to the Nth/MutY family.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolyzes free adenine bases from 7,8-dihydro-8-oxoguanine:adenine mismatched double-stranded DNA, leaving an apurinic site.; EC=3.2.2.31; Evidence=. ;.
GENATLAS Biochemistry:
mutY E coli homolog,involved in the repair of oxidative DNA damage

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUTYH

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

COMPARTMENTS
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
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

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,IBA 21873635
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

Activates:

Gene Ontology (GO) - Biological Process for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IBA,IEA 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 --
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 3311
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3570

(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

mRNA/cDNA for MUTYH Gene

13 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
46 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
10 RNACentral transcripts :
1 LncBook transcripts :
9 LNCipedia transcripts :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUTYH

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
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8: -
SP9: -
SP10:

Relevant External Links for MUTYH Gene

GeneLoc Exon Structure for
MUTYH

Expression for MUTYH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MUTYH Gene



Protein tissue co-expression partners for MUTYH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUTYH

SOURCE GeneReport for Unigene cluster for MUTYH Gene:

Hs.271353

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
Systems:
  • digestive
  • integumentary
Regions:
Abdomen:
  • intestine
  • large intestine
  • stomach
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia MUTYH 31 30
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MUTYH 31 30
  • 86.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MUTYH 31 30
  • 84.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mutyh 17 31 30
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Mutyh 30
  • 81.62 (n)
oppossum
(Monodelphis domestica)
Mammalia MUTYH 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUTYH 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUTYH 31 30
  • 64.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUTYH 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mutyh 30
  • 57.81 (n)
zebrafish
(Danio rerio)
Actinopterygii mutyh 31 30
  • 55.48 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12740 30
  • 55.1 (n)
rice
(Oryza sativa)
Liliopsida Os12g0211400 30
  • 52.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myh1 30
  • 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

ENSEMBL:
Gene Tree for MUTYH (if available)
TreeFam:
Gene Tree for MUTYH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUTYH: view image

Paralogs for MUTYH Gene

Paralogs for MUTYH Gene

(2) SIMAP similar genes for MUTYH Gene using alignment to 22 proteins:

  • MUTYH_HUMAN
  • D3DPZ6_HUMAN
  • E5KP25_HUMAN
  • E5KP26_HUMAN
  • E5KP27_HUMAN
  • E5KP28_HUMAN
  • E9PI11_HUMAN
  • E9PIW5_HUMAN
  • E9PKM9_HUMAN
  • E9PLT4_HUMAN
  • E9PM53_HUMAN
  • E9PMH1_HUMAN
  • E9PNY0_HUMAN
  • E9PP30_HUMAN
  • E9PP34_HUMAN
  • G8JLP0_HUMAN
  • H0YCA8_HUMAN
  • H0YCY5_HUMAN
  • H0YEI2_HUMAN
  • H0YER6_HUMAN
  • Q5T413_HUMAN
  • Q5T418_HUMAN
genes like me logo Genes that share paralogs with MUTYH: view

Variants for MUTYH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUTYH Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
216871 Uncertain Significance: Hereditary cancer-predisposing syndrome; MYH-associated polyposis 45,330,532(-) TGTTG/CAACA 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
640844 Uncertain Significance: MYH-associated polyposis 45,332,224(-) GGGGTACACA/G NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INDEL

Additional dbSNP identifiers (rs#s) for MUTYH Gene

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)
MUTYH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUTYH

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

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

Disorder Aliases PubMed IDs
familial adenomatous polyposis 2
  • fap2
gastric cancer
  • gastric cancer, somatic