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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 (E. coli)

(Previous name: mutY (E. coli) homolog )
 Explore 54 diseases affiliated with
MUTYH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MUTYH    

Aliases
for MUTYH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
MutY Homolog (E. Coli)1 2     EC 3.2.2.-3
MYH1 2 3 5     HMYH1
MutY (E. Coli) Homolog1     MutY Homolog3
CYP2C2     EC 3.2.28
A/G-Specific Adenine DNA Glycosylase2     

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


Summaries
for MUTYH gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
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

Proteins
for MUTYH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 is not important for the catalytic activity, 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UIF7

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

    MUTYH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals MUTYH Proteins
    Novus Biologicals MUTYH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    MUTYH Antibody Products: 
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    Uscn ELISAs and CLIAs for MUTYH

    Protein Domains /
    Families
    for MUTYH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MUTYH for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR023170 HTH_base_excis_C
     IPR011257 DNA_glycosylase
     IPR004035 Endouclease-III_FeS-bd_BS
     IPR015797 NUDIX_hydrolase_dom-like
     IPR003651 Endouclease3_FeS-loop_motif

    Graphical View of Domain Structure for InterPro Entry Q9UIF7

    ProtoNet protein and cluster: Q9UIF7

    3 Blocks protein families:
    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


    Function
    for MUTYH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    hsa-miR-1283
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    Inhib. RNA
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    OriGene shRNA RFP: MUTYH
    OriGene siRNA: MUTYH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUTYH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MUTYH

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MUTYH (see all 9)
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    Cell Line
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    Search LifeMap BioReagents cell lines for MUTYH

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUTYH

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004519endonuclease activity IEA--
    GO:0005515protein binding IPI11801590
    GO:0016787hydrolase activity ----
    GO:0016798hydrolase activity, acting on glycosyl bonds IEA--
    GO:0032405NOT MutLalpha complex binding IDA11801590


    MUTYH for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Mutyhtm1Jhmi for MUTYH
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mutyh):
     mortality/aging  tumorigenesis 

    MUTYH for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MUTYH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Base-Excision Repair, AP Site Formation
    		Base-Excision Repair, AP Site Formation1.00
    		Depurination0.38
    		Displacement of DNA glycosylase by APE10.89
    		Recognition and association of DNA glycosylase with site containing an affected purine0.38
    		Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.80
    		Cleavage of the damaged purine0.38
    		Resolution of AP sites via the single-nucleotide replacement pathway0.67
    2Resolution of Abasic Sites (AP sites)
    		Base Excision Repair1.00
    		Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    		Resolution of Abasic Sites (AP sites)1.00
    		Base excision repair0.51
    		Removal of DNA patch containing abasic residue0.89
    3DNA Damage
    		DNA Damage1.00
    4Cell Cycle / Checkpoint Control
    		Cell Cycle / Checkpoint Control1.00
    5Nucleotide Excision Repair
    		DNA Repair0.46

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for MUTYH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MUTYH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
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    hsa-miR-1283
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    Inhib. RNA
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    OriGene shRNA RFP: MUTYH
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    Clone
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    Primer
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    Additional cDNA 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 

    23 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.100663193  DT.100669115  DT.100848961  DT.92443327  DT.92443342 
    DT.95200980  DT.95200984  DT.99955041  DT.100708959  DT.100765377  DT.92008357  DT.95298757 

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

    NM_012222 AB032927 BM693194 BI818716 CR589986 BI818560 BC003178 CB853480 
    BQ690261 BG177663 BM720640 BX406133 AB032924 BM479627 BG106259 AB032929 
    CR595712 BI769754 BM845811 AB032926 CR617363 BI755522 AL539243 AB032921 

    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

    Expression
    for MUTYH gene

    (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
    CGAP TAG: GGCCAGCAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

    Primer
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    In Situ
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    Orthologs
    for MUTYH gene

    (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 last universal common ancestor (LUCA).

    Orthologs for MUTYH gene from 7/27 species (see all 27)    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
    		 --
    		 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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria mutY6
    		 adenine DNA glycosylase
    		 38(a)
    		 1 ↔ 1
    		 Chromosome(3101035-3102087)


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

    Paralogs
    for MUTYH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for MUTYH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/278 NCBI SNPs in MUTYH are shown (see all 278)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2008441661,2
    		Cpathogenic45796912(-) AGCGAA/C/G/T 
                CACCT     		24 D A G V mis10--------
    rs1219083801,2
    		C,F,pathogenic45799121(-) TGGTAA/C/TGACCA 18 * Y stg1 syn12NA EU 5875
    rs32160241,2
    		C,F--45794426(-) ACCTGC/-AGTGG 7 -- ds5001 int12Minor allele frequency- -:0.48NS CSA 180
    rs725132831,2
    		C,--45794426(+) CCACT-/GTCAGG 7 -- ds5001 int10--------
    rs1860216511,2
    		--45794473(+) ACTCCA/GGAGTG 7 -- ds5001 int10--------
    rs32194971,2
    		C,F,H,--45795027(-) CTTTCG/AGTCTC 12 /Q /R mis112Minor allele frequency- A:0.01NS EA NA WA 5930
    rs1446163121,2
    		C,--45795028(+) AGACCG/TAAAGA 12 R syn11Minor allele frequency- T:0.00NA 4552
    rs1479239051,2
    		C,--45795040(+) ATTATC/ACAGGA 12 /D /Y mis11Minor allele frequency- A:0.00NA 4552
    rs32194961,2
    		C,F,H,--45795043(-) AAGTCC/ATGGAT 12 /M /L mis18Minor allele frequency- A:0.00NS EA NA EU 6343
    rs1825378981,2
    		--45795049(+) GACTTA/GCTGGC 12 Q * stg10--------

    HapMap Linkage Disequilibrium report for MUTYH (45794835 - 45806142 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MUTYH
         1 CNV: 8915
    Human Gene Mutation Database (HGMD): MUTYH

    Locus Specific Mutation Databases (LSDB): MUTYH

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MUTYH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MUTYH for disorders           About GeneDecksing

    OMIM gene information: 604933   
    OMIM disorders: 608456  137215  132600  
    UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7
  • Defects in MUTYH are a cause of familial adenomatous polyposis type 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
  • Defects in MUTYH are a cause of 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

    20/54 diseases for MUTYH (see all 54):    About MalaCards
    colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas    mutyh-associated polyposis    muir-torre syndrome    familial adenomatous polyposis
    attenuated familial adenomatous polyposis    spinal cord ischemia    colorectal adenomatous polyposis    peutz-jeghers syndrome
    graft versus host disease    sclerosing cholangitis    adenomatous polyposis coli    primary sclerosing cholangitis
    polyposis    acoustic neuroma    gastric cancer, somatic    lynch syndrome
    adenomas, multiple colorectal    stomach cancer    cutaneous malignant melanoma    cholangitis

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

    10/21 Novoseek 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

    Publications
    for MUTYH gene

    (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 250):
    (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. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. (PubMed id 16287072)1, 4, 9 Russell A.M....Heinimann K. (2006)
    4. A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis. (PubMed id 16134146)1, 4, 9 Alhopuro P....Aaltonen L.A. (2005)
    5. 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)
    6. Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients. (PubMed id 15449173)1, 4, 9 Kim I.J....Park J.G. (2004)
    7. Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (PubMed id 18091433)1, 2, 9 Cattaneo F....Ranzani G.N. (2007)
    8. Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. (PubMed id 15761860)1, 4, 9 Kairupan C.F....Scott R.J. (2005)
    9. Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. (PubMed id 15943555)1, 4, 9 Zhou X.L....Lindblom A. (2005)
    10. Genetic alterations of the MYH gene in gastric cancer. (PubMed id 15273732)1, 2, 9 Kim C.J.... Park W.S. (2004)

    External Searches for MUTYH gene

    (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)

    Genome Databases showing MUTYH gene

    (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

    Other Databases showing MUTYH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MUTYH gene

    (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/

    Intellectual Property
    for MUTYH gene

    (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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