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Aliases & Descriptions for MUTYH
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CYP2C 2 EC 3.2.2.- 3 MGC4416 2 MYH 1 , 2 , 3 , 5 OTTHUMP00000009096 2 OTTHUMP00000009098 2 OTTHUMP00000009101 2 OTTHUMP00000009102 2 hMYH 3
Descriptions A/G-specific adenine DNA glycosylase 2 MutY homolog 2 , 3 mutY (E. coli) homolog 1 mutY homolog (E. coli) 2
Search outside databases for aliases for MUTYH genePrevious GC identifers: GC01M045522 GC01M044795 GC01M045224 GC01M045208 GC01M045464
Summaries for MUTYH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for MUTYH : This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excisesadenine 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 islocalized to the nucleus and mitochondria. Mutations in this gene result in heritablepredisposition to colon and stomach cancer. Multiple transcript variants encoding differentisoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7 Function : Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removingthe inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-ADNA glycosylase activities
Gene Wiki entry for MUTYH
Genomic Location for MUTYH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the MUTYH gene Entrez Gene cytogenetic band: 1p34.3-p32.1 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) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M045567:
(about GC identifiers )
Start:
45,567,501 bp from pter
End:
45,578,729 bp from pter
Size:
11,229 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_032977.8 Proteins for MUTYH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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, butwhich is probably involved in the proper positioning of the enzyme along the DNA strand (Bysimilarity)
Subcellular location : Nucleus
PDB structures from and Proteopedia : 1X51 (3D)
 
Secondary accessions : Q15830 Q9UBP2 Q9UBS7 Q9UIF4 Q9UIF5 Q9UIF6Alternative splicing : 7 isoforms : Q9UIF7-1 Q9UIF7-2 Q9UIF7-3 Q9UIF7-4 Q9UIF7-5 Q9UIF7-6 Q9UIF7-7
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
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: ENSP00000361170 ENSP00000352239 ENSP00000361187 ENSP00000361182 ENSP00000346354 ENSP00000347685 ENSP00000361172 ENSP00000385401 ENSP00000361176 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for MUTYH: Assays for MUTYH:
Protein
Domains/ Families for MUTYH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 familySimilarity : Contains 1 nudix hydrolase domain
Gene Function for MUTYH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_012222 Applied Biosystems Silencer ® siRNAs for MUTYH Sigma-Aldrich siRNA and siRNA Panels for MUTYH Sigma-Aldrich shRNA for MUTYH Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_001048171                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_001048171                                  untagged cDNA clones in CMV expression vector (see all 7 ): NM_001048171  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001128425 UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7 Function : Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removingthe inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-ADNA glycosylase activities Enzyme Number (IUBMB): EC 3.2.2.-
Genatlas biochemistry entry for MUTYH :mutY E coli homolog,involved in the repair of oxidative DNA damage
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mutyh) :5/12 Gene Ontology (GO) molecular function terms (links to tree view) (see all 12
):
About this table
Pathways & Interactions for MUTYH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for MUTYH 5/20 Interacting proteins for MUTYH (ENSP00000352239 3 ) via UniProtKB, MINT, and/or STRING (see all 20
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
About this table
Drugs & Compounds for MUTYH (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for MUTYH 6 Novoseek chemical compound relationships for MUTYH gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
af/ap
91.55
5
17489848 (3), 17524638 (1), 15623495 (1)
8-oxoguanine
81.40
5
15681617 (1), 15056851 (1), 17207658 (1), 15185308 (1) (see all 6 )
8-hydroxyguanine
78.35
5
19300419 (1), 11121482 (1), 11295288 (1), 18271935 (1) (see all 5 )
8-oxo-dg
43.91
1
18776649 (1)
pyrimidine
15.71
1
9611236 (1)
oxygen
12.24
3
19300419 (1), 14579148 (1), 15450125 (1)
About this table
Transcripts for MUTYH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_012222 Sigma-Aldrich siRNA and siRNA Panels for MUTYH Sigma-Aldrich shRNA for MUTYH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_012222
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
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_012222
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_001048171                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_001048171                                  untagged cDNA clones in CMV expression vector (see all 7 ): NM_001048171  
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 CR589986.1 CR601333.1
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
):BI818716 BG106259 BM479627 BQ427709 BG059970 AB032923 BM561672 BQ690261 BM720640 BC003178 BM845811 CR595712 AW498971 CB853480 AI536626 AB032921 CR617363 BQ689308 BM763584 BI755522 AL539243 CR589986 BF689856 BM457425
highest scoring ESTs for MUTYH :AB032920 AB032921 AB032922 AB032923 AI929450 AW651674 BC003178 BE336787 BE794661 BG470140
Unigene Cluster for MUTYH: MutY homolog (E. coli) Hs.271353 [show with all ESTs ] Unigene Representative Sequence: NM_001128425 GeneLoc Exon Structure 5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MUTYH (see all 10
) 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 :                                                    
About this scheme ECgene alternative splicing isoforms for MUTYH 9 Ensembl transcripts including schematic representations : ENST00000372098
ENST00000359291
ENST00000372115
ENST00000372110
ENST00000354383
ENST00000355498
ENST00000372100
ENST00000401570
ENST00000372104
Expression for MUTYH
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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MUTYH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for MUTYH 1 / 2 / 3
7 probe-sets matching MUTYH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGCCAGCAAGSOURCE GeneReport for Unigene cluster: Hs.271353 Expression variation in blood from EXPOLDB for MUTYH
Orthologs for MUTYH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for MUTYH gene from 5/9 species (see all 9
)
About this table Species with no ortholog for MUTYH ENSEMBL Gene Tree for MUTYH Paralogs for MUTYH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for MUTYH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for MUTYH (up to first 250kb)
Disorders & Mutations for MUTYH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604933 disorders : 608456 137215 132600 UniProtKB/Swiss-Prot: MUTYH_HUMAN, Q9UIF7
Defects in MUTYH are a cause of autosomal recessive colorectal adenomatous polyposis[MIM:608456] Defects in MUTYH are a cause of gastric cancer [MIM:137215]
10/21 Novoseek disease relationships for MUTYH gene (see all 21
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
polyposis
92.85
75
15932553 (5), 16287072 (5), 18422726 (4), 16425850 (3) (see all 37 )
familial adenomatous polyposis
89.56
43
19279422 (3), 16134147 (3), 15188161 (3), 18186383 (3) (see all 25 )
adenoma
80.90
63
14999774 (3), 16890597 (3), 18515411 (3), 15366000 (3) (see all 38 )
colorectal cancer
76.91
68
12707038 (4), 17931073 (3), 14991577 (3), 16941501 (3) (see all 31 )
lynch syndrome
74.20
1
17335759 (1)
adenomatous polyps
72.35
3
16521226 (2), 17674103 (1)
germ-line mutation
70.23
8
18422726 (2), 16836001 (2), 16831587 (1), 16510566 (1) (see all 6 )
microsatellite instability
68.28
4
17031395 (2), 17335759 (1), 16207212 (1)
polyps
61.97
13
17703316 (6), 15725711 (1), 14991577 (1), 17192888 (1) (see all 6 )
somatic mutations
54.00
6
18022921 (2), 11295288 (2), 15273732 (1), 17219200 (1)
About this table Human Gene Mutation Database : MUTYH Genetic Association Database: MUTYH Human Genome Epidemiology Navigator: MUTYH (49 documents)
Medical News for MUTYH (Possibly Related Articles in
Doctor's Guide )
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Publications for MUTYH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/168 PubMed articles for MUTYH gene (see all 168
): Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. (PubMed id 15366000) 1, 3, 4, 6 Isidro G.... Boavida M.G. (2004) 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, 4 Ohtsubo T....Nakabeppu Y. (2000) Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. (PubMed id 16287072) 1, 3, 6 Russell A.M....Heinimann K. (2006) A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis. (PubMed id 16134146) 1, 3, 6 Alhopuro P....Aaltonen L.A. (2005) 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, 3, 6 Gismondi V....Varesco L. (2004) 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, 3, 6 Kim I.J....Park J.G. (2004) Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. (PubMed id 15761860) 1, 3, 6 Kairupan C.F....Scott R.J. (2005) Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. (PubMed id 15943555) 1, 3, 6 Zhou X.L....Lindblom A. (2005) Genetic alterations of the MYH gene in gastric cancer. (PubMed id 15273732) 1, 3, 4 Kim C.J.... Park W.S. (2004) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. (PubMed id 12853198) 1, 3, 4 Sampson J.R.... Cheadle J.P. (2003)
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Genome Databases showing MUTYH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing MUTYH
(According to HUGE )
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Specialized Databases showing MUTYH (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
ATLAS Chromosomes in Cancer entry for MUTYH Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.genetests.org/query?gene=MUTYH NIEHS-SNPs http://egp.gs.washington.edu/data/mutyh/
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-- Services for MUTYH (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for MUTYH:
Recombinant Proteins (MYH ) Antibodies (MYH )
Search Tocris compounds for MUTYH
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009