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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MUTYH Gene

protein-coding   GIFtS: 64
GCID: GC01M045794

MutY Homolog

(Previous names: mutY (E. coli) homolog, mutY homolog (E. coli))
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MutY Homolog1 2 3     A/G-Specific Adenine DNA Glycosylase2
MYH2 3 5     EC 3.2.2.-3
MutY (E. Coli) Homolog1     hMYH3
MutY Homolog (E. Coli)1     EC 3.2.28
CYP2C2     

External Ids:    HGNC: 75271   Entrez Gene: 45952   Ensembl: ENSG000001327817   OMIM: 6049335   UniProtKB: Q9UIF73   

Export aliases for MUTYH gene to outside databases

Previous GC identifers: GC01M045522 GC01M044795 GC01M045224 GC01M045208 GC01M045464 GC01M045567 GC01M043906


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 homolog) is a protein-coding gene. Diseases associated with MUTYH include mutyh-associated polyposis, and attenuated familial adenomatous polyposis, and among its related super-pathways are Removal of DNA patch containing abasic residue and Base-free sugar-phosphate removal via the single-nucleotide replacement pathway. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and MutSalpha complex binding.

UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7
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

Gene Wiki entry for MUTYH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MUTYH gene promoter:
         HEN1   E2F-4   E2F-5   FOXO4   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MUTYH promoter sequence
   Search SABiosciences Chromatin IP Primers for MUTYH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUTYH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

MUTYH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUTYH gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M045794:  view genomic region     (about GC identifiers)

Start:
45,794,835 bp from pter      End:
45,806,142 bp from pter
Size:
11,308 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7 (See protein sequence)
Recommended Name: A/G-specific adenine DNA glycosylase  
Size: 546 amino acids; 60069 Da
Cofactor: Binds 1 4Fe-4S cluster. The cluster does not appear to play a role in catalysis, but is probably
involved in the proper positioning of the enzyme along the DNA strand (By similarity)
Subcellular location: Nucleus
Sequence caution: Sequence=BAA89339.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA89339.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA89345.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA89345.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact;
2 PDB 3D structures from and Proteopedia for MUTYH:
1X51 (3D)        3N5N (3D)    
Secondary accessions: D3DPZ4 Q15830 Q9UBP2 Q9UBS7 Q9UIF4 Q9UIF5 Q9UIF6
Alternative splicing: 6 isoforms:  Q9UIF7-1   Q9UIF7-2   Q9UIF7-3   Q9UIF7-4   Q9UIF7-5   Q9UIF7-6   

Explore the universe of human proteins at neXtProt for MUTYH: NX_Q9UIF7

Explore proteomics data for MUTYH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UIF7

  • 2 DME Specific Peptides for MUTYH (Q9UIF7)
     MLQQTQV  RPGDFNQA 

    MUTYH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MUTYH Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001041636.1  NP_001041637.1  NP_001041638.1  NP_001041639.1  NP_001121897.1  NP_036354.1  

    ENSEMBL proteins: 
     ENSP00000437093   ENSP00000431264   ENSP00000361176   ENSP00000409718   ENSP00000407590  
     ENSP00000346354   ENSP00000433843   ENSP00000347685   ENSP00000361170   ENSP00000436597  
     ENSP00000361182   ENSP00000361187   ENSP00000432330   ENSP00000431292   ENSP00000435889  
     ENSP00000432528   ENSP00000436430   ENSP00000410263   ENSP00000434985   ENSP00000437166  
     ENSP00000403655   ENSP00000436478   ENSP00000433130   ENSP00000431568   ENSP00000436469  
     ENSP00000433076   ENSP00000408176   ENSP00000361172  
    Reactome Protein details: Q9UIF7
    Human Recombinant Protein Products for MUTYH: 
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    Novus Biologicals MUTYH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUTYH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005739mitochondrion IEA--

    MUTYH for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MUTYH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR023170 HTH_base_excis_C
     IPR011257 DNA_glycosylase
     IPR015797 NUDIX_hydrolase_dom-like
     IPR003651 Endouclease3_FeS-loop_motif
     IPR004035 Endouclease-III_FeS-bd_BS

    Graphical View of Domain Structure for InterPro Entry Q9UIF7

    ProtoNet protein and cluster: Q9UIF7

    3 Blocks protein domains:
    IPB000086 NUDIX hydrolase
    IPB004036 Endonuclease III
    IPB011257 DNA glycosylase


    UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7
    Similarity: Belongs to the Nth/MutY family
    Similarity: Contains 1 nudix hydrolase domain


    MUTYH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUTYH_HUMAN, Q9UIF7
    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

         Genatlas biochemistry entry for MUTYH:
    mutY E coli homolog,involved in the repair of oxidative DNA damage

         Enzyme Numbers (IUBMB): EC 3.2.22 EC 3.2.2.-1

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004519endonuclease activity IEA--
    GO:0005515protein binding IPI11801590
    GO:0016787hydrolase activity ----
    GO:0016798hydrolase activity, acting on glycosyl bonds IEA--
         
    MUTYH for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mutyh):
     cellular  homeostasis/metabolism  mortality/aging  nervous system  tumorigenesis 

    MUTYH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MUTYH: Mutyhtm1Jhmi Mutyhtm1Yun

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MUTYH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MUTYH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUTYH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUTYH 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MUTYH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Removal of DNA patch containing abasic residue0.89
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base excision repair0.53
    Base Excision Repair0.89
    2Base-Excision Repair, AP Site Formation
    Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.90
    Depurination0.38
    Displacement of DNA glycosylase by APE10.90
    Recognition and association of DNA glycosylase with site containing an affected purine0.38
    Base-Excision Repair, AP Site Formation0.89
    Cleavage of the damaged purine0.38
    Resolution of AP sites via the single-nucleotide replacement pathway0.83
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4Nucleotide Excision Repair
    DNA Repair0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MUTYH
        Cell Cycle / Checkpoint Control
    DNA Damage

    5/12        Reactome Pathways for MUTYH (see all 12)
        Removal of DNA patch containing abasic residue
    DNA Repair
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Base-Excision Repair, AP Site Formation
    Base Excision Repair


    1         Kegg Pathway  (Kegg details for MUTYH):
        Base excision repair


    MUTYH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MUTYH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for MUTYH (Q9UIF73 ENSP000004081764) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APEX1P276953, ENSP000002167144I2D: score=4 STRING: ENSP00000216714
    PCNAP120043, ENSP000003684384I2D: score=4 STRING: ENSP00000368438
    MSH6P527013, ENSP000002344204I2D: score=3 STRING: ENSP00000234420
    RPA1P276943, ENSP000002547194I2D: score=4 STRING: ENSP00000254719
    RPA4Q131563, ENSP000003621314I2D: score=1 STRING: ENSP00000362131
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006285base-excision repair, AP site formation TAS--
    GO:0006298mismatch repair TAS7823963
    GO:0045007depurination TAS--

    MUTYH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MUTYH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MUTYH

    10 Novoseek inferred chemical compound relationships for MUTYH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    af/ap 90.9 5 17489848 (3), 17524638 (1), 15623495 (1)
    8-oxo-dgtp 81.2 3 20197241 (3)
    8-oxoguanine 80.1 5 15681617 (1), 15056851 (1), 17207658 (1), 15185308 (1) (see all 6)
    8-hydroxyguanine 79.7 5 19300419 (1), 11121482 (1), 11295288 (1), 18271935 (1) (see all 5)
    adenine 75.8 20 15681617 (2), 11121482 (2), 11160897 (2), 10684930 (1) (see all 16)
    guanine 43.9 7 15681617 (2), 15673720 (1), 16425850 (1), 15533944 (1) (see all 5)
    8-oxo-dg 41.7 1 18776649 (1)
    pyrimidine 13.8 1 9611236 (1)
    oxygen 12.5 3 19300419 (1), 14579148 (1), 15450125 (1)
    h2o2 10.3 2 18258604 (1), 15987719 (1)

    Search CenterWatch for drugs/clinical trials and news about MUTYH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MUTYH gene (6 alternative transcripts): 
    NM_001048171.1  NM_001048172.1  NM_001048173.1  NM_001048174.1  NM_001128425.1  NM_012222.2  

    Unigene Cluster for MUTYH:

    MutY homolog (E. coli)
    Hs.271353  [show with all ESTs]
    Unigene Representative Sequence: NM_001128425
    18/41 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 41):
    ENST00000529984 ENST00000485271 ENST00000372104(uc009vxo.3) ENST00000448481(uc001cng.3)
    ENST00000456914(uc001cnf.3) ENST00000354383 ENST00000475516 ENST00000355498(uc001cnj.3 uc001cni.3)
    ENST00000372098 ENST00000481571 ENST00000372110 ENST00000372115(uc001cno.3 uc010oll.2 uc001cnl.3)
    ENST00000488731 ENST00000531105 ENST00000467459 ENST00000482094 ENST00000529892
    ENST00000533178
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB025227.1 AB032920.1 AB032921.1 AB032922.1 AB032923.1 AB032924.1 AB032925.1 AB032926.1 
    AB032927.1 AB032928.1 AB032929.1 AK293830.1 BC003178.1 

    21 DOTS entries:

    DT.100663185  DT.412280  DT.100663186  DT.92443341  DT.100663188  DT.95200981  DT.92443337  DT.100663191 
    DT.100873695  DT.100870054  DT.99938731  DT.100669115  DT.100848961  DT.92443327  DT.95200980  DT.95200984 
    DT.99955041  DT.100765377  DT.92008357  DT.92443342  DT.95298757 

    24/192 AceView cDNA sequences (see all 192):

    BM679345 BM561672 BM720640 AB032921 BU948710 AB032927 CR617363 BI769754 
    BQ890365 AB032920 BG106259 BF689856 AB032923 AB032929 CR589986 CB853480 
    BG177663 BM835966 BM763584 AB032924 BQ689308 AB032922 BM926983 CR601333 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MUTYH (see all 10)    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for MUTYH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MUTYH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCAGCAAG
    MUTYH Expression
    About this image


    See MUTYH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUTYH

    SOURCE GeneReport for Unigene cluster: Hs.271353
        SABiosciences Expression via Pathway-Focused PCR Array including MUTYH: 
              DNA Repair in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MUTYH gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mutyh1 , 5 mutY homolog (E. coli)1, 5 81.72(n)1
    78.3(a)1
      4 (53.34 cM)5
    706031  NM_001159581.11  NP_001153053.11 
     1168077235 
    chicken
    (Gallus gallus)
    Aves MUTYH1 mutY homolog (E. coli) 63.28(n)
    61.65(a)
      424594  XM_422433.3  XP_422433.2 
    lizard
    (Anolis carolinensis)
    Reptilia MUTYH6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    4(110226089-110239563)
    zebrafish
    (Danio rerio)
    Actinopterygii mutyh1 mutY homolog (E. coli) 55.03(n)
    52.57(a)
      558403  XM_681606.3  XP_686698.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G127401 A/G-specific adenine glycosylase 50.89(n)
    48.09(a)
      826886  NM_117343.2  NP_193010.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g02114001 hypothetical protein 53.7(n)
    51.11(a)
      4351781  NM_001072935.1  NP_001066403.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MUTYH gene
    2 SIMAP similar genes for MUTYH using alignment to 22 protein entries:     MUTYH_HUMAN (see all proteins):
    MYHbeta    hMYH

    MUTYH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/414 SNPs in MUTYH are shown (see all 414)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649404
    Familial adenomatous polyposis 2 (FAP2)4--see VAR_0649402 R W mis40--------
    VAR_0260454
    Familial adenomatous polyposis 2 (FAP2)4--see VAR_0260452 Y H mis40--------
    VAR_0649394
    Familial adenomatous polyposis 2 (FAP2)4--see VAR_0649392 R C mis40--------
    VAR_0260474
    Familial adenomatous polyposis 2 (FAP2)4--see VAR_0260472 R H mis40--------
    VAR_0260504
    Gastric cancer (GASC)4--see VAR_0260502 Q R mis40--------
    VAR_0260464
    Familial adenomatous polyposis 2 (FAP2)4--see VAR_0260462 W R mis40--------
    VAR_0260494
    Gastric cancer (GASC)4--see VAR_0260492 P S mis40--------
    rs360539931,2,4
    C,FFamilial adenomatous polyposis 2 (FAP2)4 pathogenic145875004(-) CTCAGG/ATCTGC 12 /D /G mis13Minor allele frequency- A:0.00NA EU 4945
    rs346123421,2,4
    C,FFamilial adenomatous polyposis 2 (FAP2)4 pathogenic145876251(-) GGGCTA/GCTATT 12 Y C mis14Minor allele frequency- G:0.00NA EU 5869
    rs2008441661,2
    Cpathogenic145874688(+) AGCGAG/TCACCT 12 D A mis10--------

    HapMap Linkage Disequilibrium report for MUTYH (45794835 - 45806142 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MUTYH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1314250CNV Insertion17803354
    esv2750837CNV Loss17911159


    Human Gene Mutation Database (HGMD): MUTYH

    Locus Specific Mutation Databases (LSDB): MUTYH
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604933   
    OMIM disorders: 608456  137215  132600  
    UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7
  • 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. 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. 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)

  • 20/52 diseases for MUTYH (see all 52):    About MalaCards
    mutyh-associated polyposis    attenuated familial adenomatous polyposis    gastric cancer, somatic    stomach cancer
    colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas    adenomas, multiple colorectal    familial adenomatous polyposis    familial colorectal cancer
    hereditary diffuse gastric cancer    bladder cancer susceptibility    diffuse gastric cancer    hyperplastic polyposis syndrome
    gastric cancer    spinal cord ischemia    muir-torre syndrome    acoustic neuroma
    primary sclerosing cholangitis    neuroma    lynch syndrome    sclerosing cholangitis

    4 diseases from the University of Copenhagen DISEASES database for MUTYH:
    Familial adenomatous polyposis     Colorectal cancer     Adenoma     Lynch syndrome

    MUTYH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/21 Novoseek inferred disease relationships for MUTYH gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polyposis 93.1 80 15932553 (5), 16287072 (5), 18422726 (4), 16425850 (3) (see all 42)
    familial adenomatous polyposis 89.8 44 19279422 (3), 16134147 (3), 15188161 (3), 18186383 (3) (see all 26)
    adenoma 81.2 66 14999774 (3), 16890597 (3), 18515411 (3), 15366000 (3) (see all 41)
    colorectal cancer 76.8 78 20223032 (4), 12707038 (4), 17931073 (3), 16941501 (3) (see all 33)
    adenomatous polyps 73 3 16521226 (2), 17674103 (1)
    lynch syndrome 71 1 17335759 (1)
    germ-line mutation 69 8 18422726 (2), 16836001 (2), 16831587 (1), 16510566 (1) (see all 6)
    microsatellite instability 66.8 4 17031395 (2), 17335759 (1), 16207212 (1)
    polyps 64.2 13 17703316 (6), 15725711 (1), 14991577 (1), 17192888 (1) (see all 6)
    somatic mutations 52.3 6 18022921 (2), 11295288 (2), 15273732 (1), 17219200 (1)

    Genetic Association Database (GAD): MUTYH
    Human Genome Epidemiology (HuGE) Navigator: MUTYH (83 documents)

    Export disorders for MUTYH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MUTYH gene, integrated from 9 sources (see all 261):
    (articles sorted by number of sources associating them with MUTYH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. (PubMed id 15366000)1, 2, 4, 9 Isidro G.... Boavida M.G. (2004)
    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. (PubMed id 10684930)1, 2, 3, 9 Ohtsubo T.... Nakabeppu Y. (2000)
    3. Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (PubMed id 18091433)1, 2, 4, 9 Cattaneo F....Ranzani G.N. (2007)
    4. Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. (PubMed id 17703316)1, 4, 9 Kim D.W....Park J.G. (2007)
    5. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. (PubMed id 16287072)1, 4, 9 Russell A.M....Heinimann K. (2006)
    6. A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis. (PubMed id 16134146)1, 4, 9 Alhopuro P....Aaltonen L.A. (2005)
    7. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. (PubMed id 14999774)1, 4, 9 Gismondi V....Varesco L. (2004)
    8. Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis. (PubMed id 18422726)1, 4, 9 Yanaru-Fujisawa R....Iida M. (2008)
    9. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PubMed id 18515411)1, 4, 9 Dallosso A.R....Sampson J.R. (2008)
    10. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. (PubMed id 17489848)1, 4, 9 Nielsen M....Vasen H.F. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4595 HGNC: 7527 AceView: MUTYH Ensembl:ENSG00000132781 euGenes: HUgn4595
    ECgene: MUTYH Kegg: 4595 H-InvDB: MUTYH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MUTYH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUTYH Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MUTYH
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mutyh/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MUTYH gene:
    Search GeneIP for patents involving MUTYH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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