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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
  • MutY Homolog (E. Coli) 2
  • MutY-Like Protein 3
  • EC 3.2.2.- 4
  • EC 3.2.2 63
  • 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. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MUTYH Gene

MUTYH (MutY DNA Glycosylase) is a Protein Coding gene. Diseases associated with MUTYH include adenomas, multiple colorectal and gastric cancer, somatic. Among its related pathways are DNA Double-Strand Break Repair and Telomere C-strand (Lagging Strand) Synthesis. 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

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

Genomics for MUTYH Gene

Regulatory Elements for MUTYH Gene

Promoters for MUTYH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MUTYH on UCSC Golden Path with GeneCards custom track

Genomic Location for MUTYH Gene

Chromosome:
1
Start:
45,329,163 bp from pter
End:
45,340,470 bp from pter
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=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

Proteomics data for MUTYH Gene at MOPED

Selected DME Specific Peptides for MUTYH Gene

Post-translational modifications for MUTYH Gene

  • Ubiquitination at Lys 189 and Lys 506
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MUTYH (MUTYH)

Domains & Families for MUTYH Gene

Gene Families for MUTYH Gene

Graphical View of Domain Structure for InterPro Entry

Q9UIF7

UniProtKB/Swiss-Prot:

MUTYH_HUMAN :
  • Contains 1 nudix hydrolase domain.
  • Belongs to the Nth/MutY family.
Domain:
  • Contains 1 nudix hydrolase domain.
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

Gene Ontology (GO) - Molecular Function for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 11801590
GO:0016787 hydrolase activity IEA --
GO:0019104 DNA N-glycosylase activity IEA,TAS --
GO:0032405 NOT MutLalpha complex binding IDA 11801590
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

  • Taconic Biosciences Mouse Models for MUTYH

miRNA for MUTYH Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUTYH Gene COMPARTMENTS Subcellular localization image for MUTYH gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for MUTYH Gene

Pathways & Interactions for MUTYH Gene

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

SIGNOR curated interactions for MUTYH Gene

Activates:

Gene Ontology (GO) - Biological Process for MUTYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045007 depurination TAS --
genes like me logo Genes that share ontologies with MUTYH: view

Drugs & Compounds for MUTYH Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2540
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2643

(8) 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:

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
ECgene alternative splicing isoforms for
MUTYH

Expression for MUTYH Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for MUTYH Gene



SOURCE GeneReport for Unigene cluster for MUTYH Gene Hs.271353

genes like me logo Genes that share expression patterns with MUTYH: view

Protein tissue co-expression partners for MUTYH Gene

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
MUTYH 35
  • 99.5 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia MUTYH 35
  • 86.03 (n)
  • 82.31 (a)
MUTYH 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUTYH 36
  • 68 (a)
OneToOne
MUTYH 35
  • 84.65 (n)
  • 81.02 (a)
mouse
(Mus musculus)
Mammalia Mutyh 16
Mutyh 36
  • 77 (a)
OneToOne
Mutyh 35
  • 81.72 (n)
  • 78.3 (a)
oppossum
(Monodelphis domestica)
Mammalia MUTYH 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUTYH 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mutyh 35
  • 81.62 (n)
  • 77.67 (a)
chicken
(Gallus gallus)
Aves MUTYH 35
  • 64.06 (n)
  • 61.39 (a)
MUTYH 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUTYH 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mutyh 35
  • 57.81 (n)
  • 58.17 (a)
zebrafish
(Danio rerio)
Actinopterygii mutyh 35
  • 55.48 (n)
  • 52.8 (a)
mutyh 36
  • 47 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12740 35
  • 55.1 (n)
  • 55.31 (a)
rice
(Oryza sativa)
Liliopsida Os12g0211400 35
  • 52.2 (n)
  • 47.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myh1 35
  • 46.67 (n)
  • 40.49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for MUTYH:
  • 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)

Paralogs for MUTYH Gene

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

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 Sequence Context AA Info Type
rs3219484 - 45,334,484(-) CAGCC(A/G)TGGGA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs34612342 Familial adenomatous polyposis 2 (FAP2) 45,332,803(-) GGGCT(A/G)CTATT nc-transcript-variant, reference, missense
rs3219489 - 45,331,833(-) GGACA(C/G)TGCCA nc-transcript-variant, reference, missense
rs36053993 Familial adenomatous polyposis 2 (FAP2) 45,331,556(-) CTCAG(A/G)TCTGC nc-transcript-variant, reference, missense
rs3219494 - 45,330,526(-) GCCAG(A/G)GACCT nc-transcript-variant, reference, missense

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

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)

Relevant External Links for MUTYH Gene

HapMap Linkage Disequilibrium report
MUTYH
Human Gene Mutation Database (HGMD)
MUTYH

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

Disorders for MUTYH Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

MUTYH_HUMAN
  • 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:18091433, ECO:0000269 PubMed:19953527}. 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}. 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}.

Relevant External Links for MUTYH

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

No data available for Genatlas for MUTYH Gene

Publications for MUTYH Gene

  1. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. (PMID: 15366000) Isidro G. … Boavida M.G. (Hum. Mutat. 2004) 3 4 23 48 67
  2. 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 Res. 2000) 2 3 23
  3. Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. (PMID: 18980800) Tricarico R. … Genuardi M. (Cancer Lett. 2009) 3 23
  4. Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. (PMID: 19279422) De Rosa M. … Izzo P. (Dis. Colon Rectum 2009) 3 23
  5. Polymorphisms of the DNA base excision repair gene MUTYH in head and neck cancer. (PMID: 19300419) Sliwinski T. … Majsterek I. (Exp. Oncol. 2009) 3 23

Products for MUTYH Gene

Sources for MUTYH Gene

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