Aliases for MUTYH Gene
Aliases for MUTYH Gene
External Ids for MUTYH Gene
- HGNC: 7527
- Entrez Gene: 4595
- Ensembl: ENSG00000132781
- OMIM: 604933
- UniProtKB: Q9UIF7
Previous GeneCards Identifiers for MUTYH Gene
- GC01M045522
- GC01M044795
- GC01M045224
- GC01M045208
- GC01M045464
- GC01M045567
- GC01M045794
- GC01M043906
Summaries 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.
Additional gene information for MUTYH Gene
- Monarch Initiative
- Search for MUTYH at DataMed
- Search for MUTYH at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MUTYH on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MUTYH Gene
Genomic Locations for MUTYH Gene
- chr1:45,329,163-45,340,470
- (GRCh38/hg38)
- Size:
- 11,308 bases
- Orientation:
- Minus strand
- chr1:45,794,835-45,806,142
- (GRCh37/hg19)
Genomic View for MUTYH Gene
Genes around MUTYH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p34.1 by Ensembl
- 1p34.1 by Entrez Gene
- 1p34.1 by HGNC
MUTYH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MUTYH Gene
Selected DME Specific Peptides for MUTYH Gene
- Q9UIF7:
-
- MLQQTQV
- RPGDFNQA
Post-translational modifications for MUTYH Gene
- Ubiquitination at Lys189 and isoforms=2, 3, 4, 5, 6506
Other Protein References for MUTYH Gene
- ENSEMBL proteins:
-
- ENSP00000346354
- ENSP00000347685
- ENSP00000361176
- ENSP00000361182
- ENSP00000361187
- ENSP00000403655
- ENSP00000407590
- ENSP00000408176
- ENSP00000409718
- ENSP00000410263
- ENSP00000431264
- ENSP00000431292
- ENSP00000431568
- ENSP00000432330
- ENSP00000432528
- ENSP00000433130
- ENSP00000433843
- ENSP00000434985
- ENSP00000435889
- ENSP00000436430
- ENSP00000436469
- ENSP00000436478
- ENSP00000436597
- ENSP00000437093
- ENSP00000437166
- ENSP00000361170
- REFSEQ proteins:
-
- NP_001041636.1
- NP_001041637.1
- NP_001041638.1
- NP_001041639.1
- NP_001121897.1
- NP_001280119.1
- NP_001280120.1
- NP_001280121.1
- NP_001280124.1
- NP_001280125.1
- NP_001337579.1
- NP_001337580.1
- NP_036354.1
- XP_011539799.1
- XP_011539800.1
- XP_011539801.1
- XP_011539802.1
- XP_011539803.1
- XP_011539804.1
- XP_011539805.1
- XP_011539806.1
- XP_011539807.1
- XP_011539808.1
- XP_011539809.2
- XP_016856820.1
- XP_016856821.1
- XP_016856822.1
- XP_016856823.1
- XP_016856824.1
- XP_016856825.1
- XP_016856826.1
- XP_016856827.1
- XP_016856828.1
Antibody Products
- Cell Signaling Technology (CST) Antibodies for MUTYH (MUTYH)
-
Custom Antibody ServicesOriGene Antibodies for MUTYH
- Novus Biologicals Antibodies for MUTYH
-
Abcam antibodies for MUTYH
-
Cloud-Clone Corp. Antibodies for MUTYH
- Invitrogen Antibodies for MUTYH
- antibodies-online: Search results for 103 available MUTYH Antibodies ranked by validation data
- Compare Top MUTYH Antibodies
-
Recommended
- 3 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 29 WB Antibodies (anti-rat)
- 1 IF/ICC Antibody (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 36 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 EIA Antibody (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 83 WB Antibodies (anti-human)
- GeneTex MUTYH antibody for MUTYH
-
Santa Cruz Biotechnology (SCBT) Antibodies for MUTYH
Protein Products
-
OriGene Purified Proteins for MUTYH
- Search Origene for MassSpec and Protein Over-expression Lysates for MUTYH
- Origene Custom Protein Services for MUTYH
-
Cloud-Clone Corp. Proteins for MUTYH
- Search GeneTex for Proteins for MUTYH
-
Abcam proteins for MUTYH
Assay Products
-
Cloud-Clone Corp. Assay Kits for MUTYH
Domains & Families for MUTYH Gene
Gene Families for MUTYH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for MUTYH Gene
Suggested Antigen Peptide Sequences for MUTYH Gene
Graphical View of Domain Structure for InterPro Entry
Q9UIF7- Family:
-
- Belongs to the Nth/MutY family.
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
| 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 | -- |
Phenotypes for MUTYH Gene
- MGI mutant phenotypes for MUTYH:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MUTYH:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MUTYH
-
- Search ViGene Biosciences for MUTYH
CRISPR Products
-
OriGene CRISPR knockouts for MUTYH
- genomics-online: gRNA clones - Search results for available MUTYH gene related products
- Applied Biological Materials CRISPR for MUTYH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUTYH
- GenScript: Design CRISPR guide RNA sequences for MUTYH
miRNA for MUTYH Gene
- miRTarBase miRNAs that target MUTYH
miRNA Products
- Search ViGene Biosciences for MUTYH
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MUTYH
- Browse OriGene Inhibitory RNA Products For MUTYH
- genomics-online: shRNA clones - Search results for available MUTYH gene related products
Clone Products
-
OriGene ORF clones in human for MUTYH
- RG221402
- RC221402L2
- RC221402L1
- RC221402
- RC238178
- RC238703
- RC238177
- RC238746
- RC238781
- RG225939
- RC225939L2
- RC225939L1
- RC225939
- RG201376
- RC201376L2
- RC201376L1
- RC201376
- RG222842
- RC222842L2
- RC222842L1
- RC222842
- RG212609
- RC212609L2
- RC212609L1
- RC212609
- RG212561
- RC212561L2
- RC212561L1
- RC212561
- RC221402L2V
- RC221402L1V
- RC225939L2V
- RC225939L1V
- RC201376L2V
- RC201376L1V
- RC222842L2V
- RC222842L1V
- RC212609L2V
- RC212609L1V
- RC212561L2V
- RC212561L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MUTYH in any vector
- NM_001048171.1
- XM_011541502.1
- XM_011541505.1
- XM_011541508.1
- NM_001293191.1
- NM_001293196.1
- XM_011541498.1
- NM_001048174.1
- XM_011541501.1
- NM_001128425.1
- XM_011541504.1
- XM_011541507.1
- NM_001293192.1
- NM_001293195.1
- XM_011541497.1
- NM_001048173.1
- XM_011541500.1
- NM_012222.2
- XM_011541503.1
- XM_011541506.1
- NM_001048172.1
- NM_001293190.1
- XM_011541499.1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MUTYH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MUTYH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available MUTYH gene related products
- orf clones - Search results for available MUTYH gene related products
- Applied Biological Materials Clones for MUTYH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MUTYH
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 4 |
| cytoskeleton | 2 |
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005739 | mitochondrion | IEA | -- |
Pathways & Interactions for MUTYH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Telomere C-strand (Lagging Strand) Synthesis | ||
| 2 | Depurination | ||
| 3 | DNA Damage | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for MUTYH Gene
1 Cell Signaling Technology pathway for MUTYH Gene
8 Reactome pathways for MUTYH Gene
1 KEGG pathway for MUTYH Gene
Interacting Proteins for MUTYH Gene
Selected Interacting proteins:
ENSP00000361170
Q9UIF7-MUTYH_HUMAN
for MUTYH Gene via
STRING
IID
UniProtKB
| 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 | -- |
Drugs & Compounds for MUTYH Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for MUTYH Gene
mRNA/cDNA for MUTYH Gene
- (33) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (192) Selected AceView cDNA sequences:
- (39) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MUTYH Gene
- MutY homolog (E. coli):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MUTYH
- genomics-online: gRNA clones - Search results for available MUTYH gene related products
- Applied Biological Materials CRISPR for MUTYH
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUTYH
- GenScript: Design CRISPR guide RNA sequences for MUTYH
miRNA Products
- Search ViGene Biosciences for MUTYH
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MUTYH
- Browse OriGene Inhibitory RNA Products For MUTYH
- genomics-online: shRNA clones - Search results for available MUTYH gene related products
Clone Products
-
OriGene ORF clones in human for MUTYH
- RG221402
- RC221402L2
- RC221402L1
- RC221402
- RC238178
- RC238703
- RC238177
- RC238746
- RC238781
- RG225939
- RC225939L2
- RC225939L1
- RC225939
- RG201376
- RC201376L2
- RC201376L1
- RC201376
- RG222842
- RC222842L2
- RC222842L1
- RC222842
- RG212609
- RC212609L2
- RC212609L1
- RC212609
- RG212561
- RC212561L2
- RC212561L1
- RC212561
- RC221402L2V
- RC221402L1V
- RC225939L2V
- RC225939L1V
- RC201376L2V
- RC201376L1V
- RC222842L2V
- RC222842L1V
- RC212609L2V
- RC212609L1V
- RC212561L2V
- RC212561L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MUTYH in any vector
- NM_001048171.1
- XM_011541502.1
- XM_011541505.1
- XM_011541508.1
- NM_001293191.1
- NM_001293196.1
- XM_011541498.1
- NM_001048174.1
- XM_011541501.1
- NM_001128425.1
- XM_011541504.1
- XM_011541507.1
- NM_001293192.1
- NM_001293195.1
- XM_011541497.1
- NM_001048173.1
- XM_011541500.1
- NM_012222.2
- XM_011541503.1
- XM_011541506.1
- NM_001048172.1
- NM_001293190.1
- XM_011541499.1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MUTYH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MUTYH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available MUTYH gene related products
- orf clones - Search results for available MUTYH gene related products
- Applied Biological Materials Clones for MUTYH
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of MUTYH Gene:
MUTYHSOURCE GeneReport for Unigene cluster for MUTYH Gene:
Hs.271353Evidence 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
Primer Products
-
OriGene qPCR primer pairs for MUTYH
-
OriGene qPCR primer pairs and template standards for MUTYH
- genomics-online: primer clones - Search results for available MUTYH gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MUTYH 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MUTYH 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | MUTYH 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Mutyh 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mutyh 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MUTYH 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MUTYH 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MUTYH 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MUTYH 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mutyh 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mutyh 33 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G12740 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os12g0211400 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | myh1 33 |
|
- 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)
Paralogs for MUTYH Gene
(2) SIMAP similar genes for MUTYH Gene using alignment to 22 proteins:
No data available for Paralogs for MUTYH Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1133024 | OTHER | inversion | 24896259 |
| esv2750837 | CNV | loss | 17911159 |
| esv1314250 | CNV | insertion | 17803354 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUTYH Gene
Disorders for MUTYH Gene
(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 |
|
|
| pilomatrixoma |
|
|
| gastric cancer |
|
|
| mutyh-associated polyposis |
|
|
| familial adenomatous polyposis |
|
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: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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MUTYH Gene
Publications for MUTYH Gene
- 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
- 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
- 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
- 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
- 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
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- antibodies-online: Search results for 103 available MUTYH Antibodies ranked by validation data
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Sources for MUTYH Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4)