Human Gene MUTYH (ENST00000450313.6) from GENCODE V44
  Description: mutY DNA glycosylase (from HGNC MUTYH)
RefSeq Summary (NM_001128425): 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].
Gencode Transcript: ENST00000450313.6
Gencode Gene: ENSG00000132781.21
Transcript (Including UTRs)
   Position: hg38 chr1:45,332,196-45,340,399 Size: 8,204 Total Exon Count: 9 Strand: -


Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:45,332,196-45,340,399)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGencodeHGNCLynxMalacards
PubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MUTYH
Diseases sorted by gene-association score: adenomas, multiple colorectal* (1550), gastric cancer, somatic* (852), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas* (636), mutyh-associated polyposis* (530), familial adenomatous polyposis* (327), endometrial cancer* (155), stomach cancer* (141), colonic benign neoplasm* (141), colorectal cancer* (80), colorectal adenoma (14), attenuated familial adenomatous polyposis (13), lynch syndrome (13), hyperplastic polyposis syndrome (13), cecal benign neoplasm (11), muir-torre syndrome (11), hereditary mixed polyposis syndrome 1 (10), jejunal cancer (9), intestinal benign neoplasm (7), hereditary colorectal cancer (7), polyposis, juvenile intestinal (6), gastrointestinal system benign neoplasm (6), familial colorectal cancer (6), adenoma (5), acoustic neuroma (5), cell type benign neoplasm (4), rectal neoplasm (2), autosomal genetic disease (1), gastrointestinal system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.09 RPKM in Brain - Cerebellum
Total median expression: 297.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF206566 - JP 2014500723-A/14069: Polycomb-Associated Non-Coding RNAs.
MA442143 - JP 2018138019-A/14069: Polycomb-Associated Non-Coding RNAs.
AK293830 - Homo sapiens cDNA FLJ53724 complete cds, highly similar to A/G-specific adenine DNA glycosylase (EC 3.2.2.-).
AB032924 - Homo sapiens mRNA for hMYHbeta1, complete cds.
AB032925 - Homo sapiens mRNA for hMYHbeta3, complete cds.
AB032926 - Homo sapiens mRNA for hMYHbeta5, complete cds.
AB032927 - Homo sapiens mRNA for hMYHgamma2, complete cds.
AB032928 - Homo sapiens mRNA for hMYHgamma3, complete cds.
AB032929 - Homo sapiens mRNA for hMYHgamma4, complete cds.
AB032920 - Homo sapiens mRNA for hMYHalpha1, complete cds.
AB032921 - Homo sapiens mRNA for hMYHalpha2, complete cds.
AB032922 - Homo sapiens mRNA for hMYHalpha3, complete cds.
AB032923 - Homo sapiens mRNA for hMYHalpha4, complete cds.
BC003178 - Homo sapiens mutY homolog (E. coli), mRNA (cDNA clone MGC:4416 IMAGE:2958002), complete cds.
KU178203 - Homo sapiens mutY-like protein isoform 1 (MUTYH) mRNA, partial cds.
KU178204 - Homo sapiens mutY-like protein isoform 3 (MUTYH) mRNA, complete cds, alternatively spliced.
AB590565 - Synthetic construct DNA, clone: pFN21AE1976, Homo sapiens MUTYH gene for mutY homolog, without stop codon, in Flexi system.
CU678424 - Synthetic construct Homo sapiens gateway clone IMAGE:100020334 5' read MUTYH mRNA.
AB025227 - Homo sapiens mRNA for MutY homolog (hMYH), partial cds.
JD258625 - Sequence 239649 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03410 - Base excision repair

-  Other Names for This Gene
  Alternate Gene Symbols: AB032920, ENST00000450313.1, ENST00000450313.2, ENST00000450313.3, ENST00000450313.4, ENST00000450313.5, uc009vxp.1, uc009vxp.2, uc009vxp.3, uc009vxp.4, uc009vxp.5
UCSC ID: ENST00000450313.6
RefSeq Accession: NM_001128425

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MUTYH:
maps (MUTYH Polyposis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.