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MUTYH (mutY homolog (E. coli))

Written2006-06Maurizio Genuardi, Rossella Tricarico
Department of Clinical Pathophysiology, University of Florence, Viale Gaetano Pieraccini 6, 50139 Firenze, Italy

(Note : for Links provided by Atlas : click)


MutY homolog (hMYH)
mutY (E. coli) homolog
mutY homolog
HGNC Alias symbMYH
HGNC Previous namemutY homolog (E. coli)
LocusID (NCBI) 4595
Atlas_Id 41464
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 45329242 and ends at 45340470 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping MUTYH.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CBFB (16q22.1)::MUTYH (1p34.1)GTF2B (1p22.2)::MUTYH (1p34.1)THRAP3 (1p34.3)::MUTYH (1p34.1)


  Mutyh AUG 1, 2 and 3 are alternative codons for translation initiation; cDNA not drawn to scale (adapted from Parker et al., 2003).
Description The MUTYH gene contains 16 exons spanning a region of 11147 bp.
Transcription The transcribed mRNA is 1854 bp long. There are three major classes of human MUTYH mRNAs: a, b and g. Each of these undergoes alternative splicing, suggesting a total of 10 possible mature transcripts. However, their distribution and abundance in different normal tissues have yet to be determined. The reference isoform is MutYa3.


  Diagram of the MUTYH protein in scale. Filled boxes represent known functional domains (adapted from Sampson et al, 2005).
Description Aminoacids: 535. Molecular Weight: 52 kDa. MUTYH is a protein involved in base excision repair (BER). It contains a DNA binding domain, an adenine binding motif and several interaction domains for APE1, PCNA, RPA and MSH6, located in different regions of the gene.
Expression Ubiquitous.
Localisation Nuclear and mithocondrial.
Function MUTYH is involved in oxidative DNA damage repair. Human MutY is responsible for recognition and removal of inappropriately inserted adenine in Ao8-oxoG mispairs. If unrepaired, the Ao8-oxoG mispairs can result in C:G to A:T transversions. MUTYH functions in a postreplication repair pathway and is targeted to the newly synthesized daughter strand of DNA for removal of the adenine base.
Homology MUTYH is homologous to the bacterial MutY gene, and MUTYH homologues are also present in eukaryote.


Germinal Biallelic germline mutations of MUTYH are associated with colorectal polyposis. The most common mutations in Caucasians are the missense substitutions Y165C (494A>G) and G382D (1145G>A). Functional analysis of C165 and D382 proteins has shown a severe decrease of catalytic activity. E466X and Y90X are the common mutations reported in Indian and Pakistani cases. Several other missense, nonsense, in-frame, frameshift and splicing mutations have been found in patients with colorectal polyposis.
Somatic To date, no MUTYH somatic mutation has been described.

Implicated in

Entity .
Disease Biallelic MUTYH mutations are responsible for the autosomal recessive form of intestinal adenomatous polyposis.
Oncogenesis Defective BER function associated with MUTYH mutations determines an increase in the somatic mutation rate, namely of G>T transversions at guanine residues that are potential targets of oxidative damage. Tumors from biallelic MUTYH mutation carriers display an excess of somatic G>T mutations in the APC and KRAS genes


Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP
Nature genetics. 2002 ; 30 (2) : 227-232.
PMID 11818965
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.
Bai H, Jones S, Guan X, Wilson TM, Sampson JR, Cheadle JP, Lu AL
Nucleic acids research. 2005 ; 33 (2) : 597-604.
PMID 15673720
Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.
Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, Redston M, Cotterchio M, Knight J, Gryfe R, Gallinger S
Journal of the National Cancer Institute. 2004 ; 96 (21) : 1631-1634.
PMID 15523092
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L
International journal of cancer. Journal international du cancer. 2004 ; 109 (5) : 680-684.
PMID 14999774
Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6.
Gu Y, Parker A, Wilson TM, Bai H, Chang DY, Lu AL
The Journal of biological chemistry. 2002 ; 277 (13) : 11135-11142.
PMID 11801590
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
Halford SE, Rowan AJ, Lipton L, Sieber OM, Pack K, Thomas HJ, Hodgson SV, Bodmer WF, Tomlinson IP
The American journal of pathology. 2003 ; 162 (5) : 1545-1548.
PMID 12707038
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.
Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP
Human molecular genetics. 2002 ; 11 (23) : 2961-2967.
PMID 12393807
Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
Jones S, Lambert S, Williams GT, Best JM, Sampson JR, Cheadle JP
British journal of cancer. 2004 ; 90 (8) : 1591-1593.
PMID 15083190
Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.
Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, Barclay E, Sieber O, Sadat A, Bisgaard ML, Hodgson SV, Aaltonen LA, Thomas HJ, Tomlinson IP
Cancer research. 2003 ; 63 (22) : 7595-7599.
PMID 14633673
The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.
Lipton L, Tomlinson I
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 2004 ; 2 (8) : 633-638.
PMID 15290654
Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.
McGoldrick JP, Yeh YC, Solomon M, Essigmann JM, Lu AL
Molecular and cellular biology. 1995 ; 15 (2) : 989-996.
PMID 7823963
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.
Ohtsubo T, Nishioka K, Imaiso Y, Iwai S, Shimokawa H, Oda H, Fujiwara T, Nakabeppu Y
Nucleic acids research. 2000 ; 28 (6) : 1355-1364.
PMID 10684930
Human MutY: gene structure, protein functions and interactions, and role in carcinogenesis.
Parker AR, Eshleman JR
Cellular and molecular life sciences : CMLS. 2003 ; 60 (10) : 2064-2083.
PMID 14618256
Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles.
Parker AR, O'Meally RN, Sahin F, Su GH, Racke FK, Nelson WG, DeWeese TL, Eshleman JR
The Journal of biological chemistry. 2003 ; 278 (48) : 47937-47945.
PMID 12966098
Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.
Parker AR, Sieber OM, Shi C, Hua L, Takao M, Tomlinson IP, Eshleman JR
Carcinogenesis. 2005 ; 26 (11) : 2010-2018.
PMID 15987719
Insight into the functional consequences of hMYH variants associated with colorectal cancer: distinct differences in the adenine glycosylase activity and the response to AP endonucleases of Y150C and G365D murine MYH.
Pope MA, Chmiel NH, David SS
DNA repair. 2005 ; 4 (3) : 315-325.
PMID 15661655
MutYH (MYH) and colorectal cancer.
Sampson JR, Jones S, Dolwani S, Cheadle JP
Biochemical Society transactions. 2005 ; 33 (Pt 4) : 679-683.
PMID 16042573
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP
The New England journal of medicine. 2003 ; 348 (9) : 791-799.
PMID 12606733
High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.
Venesio T, Molatore S, Cattaneo F, Arrigoni A, Risio M, Ranzani GN
Gastroenterology. 2004 ; 126 (7) : 1681-1685.
PMID 15188161


This paper should be referenced as such :
Genuardi, M ; Tricarico, R. MUTYH (mutY homolog (E
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):236-238.
Free journal version : [ pdf ]   [ DOI ]

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  MUTYH-Associated Polyposis (MAP) MUTYH associated polyposis

External links


HGNC (Hugo)MUTYH   7527
LRG (Locus Reference Genomic)LRG_220
Entrez_Gene (NCBI)MUTYH    mutY DNA glycosylase
GeneCards (Weizmann)MUTYH
Ensembl hg19 (Hinxton)ENSG00000132781 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132781 [Gene_View]  ENSG00000132781 [Sequence]  chr1:45329242-45340470 [Contig_View]  MUTYH [Vega]
ICGC DataPortalENSG00000132781
Genatlas (Paris)MUTYH
Genetics Home Reference (NIH)MUTYH
Genomic and cartography
GoldenPath hg38 (UCSC)MUTYH  -     chr1:45329242-45340470 -  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MUTYH  -     1p34.1   [Description]    (hg19-Feb_2009)
GoldenPathMUTYH - 1p34.1 [CytoView hg19]  MUTYH - 1p34.1 [CytoView hg38]
Genome Data Viewer NCBIMUTYH [Mapview hg19]  
OMIM604933   608456   
Gene and transcription
Genbank (Entrez)AB025227 AB032920 AB032921 AB032922 AB032923
RefSeq transcript (Entrez)NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_001293190 NM_001293191 NM_001293192 NM_001293195 NM_001293196 NM_001350650 NM_001350651 NM_012222
Consensus coding sequences : CCDS (NCBI)MUTYH
Gene Expression Viewer (FireBrowse)MUTYH [ Firebrowse - Broad ]
GenevisibleExpression of MUTYH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4595
GTEX Portal (Tissue expression)MUTYH
Human Protein AtlasENSG00000132781-MUTYH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UIF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UIF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UIF7
Domaine pattern : Prosite (Expaxy)ENDONUCLEASE_III_1 (PS00764)    ENDONUCLEASE_III_2 (PS01155)    NUDIX (PS51462)   
Domains : Interpro (EBI)DNA_glycosylase    Endonuclease-III-like_CS2    Endonuclease3_FeS-loop_motif    Endouclease-III_FeS-bd_BS    HhH-GPD_domain    HhH_motif    HTH_base_excis_C    MutY_C    NUDIX_hydrolase-like_dom_sf    NUDIX_hydrolase_dom   
Domain families : Pfam (Sanger)HHH (PF00633)    HhH-GPD (PF00730)    NUDIX_4 (PF14815)   
Domain families : Pfam (NCBI)pfam00633    pfam00730    pfam14815   
Domain families : Smart (EMBL)ENDO3c (SM00478)  FES (SM00525)  
Conserved Domain (NCBI)MUTYH
PDB (RSDB)1X51    3N5N   
PDB Europe1X51    3N5N   
PDB (PDBSum)1X51    3N5N   
PDB (IMB)1X51    3N5N   
Structural Biology KnowledgeBase1X51    3N5N   
SCOP (Structural Classification of Proteins)1X51    3N5N   
CATH (Classification of proteins structures)1X51    3N5N   
AlphaFold pdb e-kbQ9UIF7   
Human Protein Atlas [tissue]ENSG00000132781-MUTYH [tissue]
Protein Interaction databases
IntAct (EBI)Q9UIF7
Ontologies - Pathways
Ontology : AmiGOpurine-specific mismatch base pair DNA N-glycosylase activity  purine-specific mismatch base pair DNA N-glycosylase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  DNA repair  base-excision repair  base-excision repair, gap-filling  mismatch repair  oxidized purine DNA binding  MutLalpha complex binding  MutLbeta complex binding  MutSalpha complex binding  MutSbeta complex binding  8-oxo-7,8-dihydroguanine DNA N-glycosylase activity  adenine/guanine mispair binding  depurination  metal ion binding  4 iron, 4 sulfur cluster binding  
Ontology : EGO-EBIpurine-specific mismatch base pair DNA N-glycosylase activity  purine-specific mismatch base pair DNA N-glycosylase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  DNA repair  base-excision repair  base-excision repair, gap-filling  mismatch repair  oxidized purine DNA binding  MutLalpha complex binding  MutLbeta complex binding  MutSalpha complex binding  MutSbeta complex binding  8-oxo-7,8-dihydroguanine DNA N-glycosylase activity  adenine/guanine mispair binding  depurination  metal ion binding  4 iron, 4 sulfur cluster binding  
Pathways : KEGGBase excision repair   
Atlas of Cancer Signalling NetworkMUTYH
Wikipedia pathwaysMUTYH
Orthology - Evolution
GeneTree (enSembl)ENSG00000132781
Phylogenetic Trees/Animal Genes : TreeFamMUTYH
Homologs : HomoloGeneMUTYH
Homology/Alignments : Family Browser (UCSC)MUTYH
Gene fusions - Rearrangements
Fusion : MitelmanTHRAP3::MUTYH [1p34.3/1p34.1]  
Fusion : QuiverMUTYH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMUTYH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUTYH
Exome Variant ServerMUTYH
GNOMAD BrowserENSG00000132781
Varsome BrowserMUTYH
ACMGMUTYH variants
Genomic Variants (DGV)MUTYH [DGVbeta]
DECIPHERMUTYH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMUTYH 
ICGC Data PortalMUTYH 
TCGA Data PortalMUTYH 
Broad Tumor PortalMUTYH
OASIS PortalMUTYH [ Somatic mutations - Copy number]
Cancer Gene: CensusMUTYH 
Somatic Mutations in Cancer : COSMICMUTYH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMUTYH
Mutations and Diseases : HGMDMUTYH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)MUTYH
DoCM (Curated mutations)MUTYH
CIViC (Clinical Interpretations of Variants in Cancer)MUTYH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM604933    608456   
Genetic Testing Registry MUTYH
NextProtQ9UIF7 [Medical]
Target ValidationMUTYH
Huge Navigator MUTYH [HugePedia]
ClinGenMUTYH (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTDMUTYH
Pharm GKB GenePA31328
Clinical trialMUTYH
DataMed IndexMUTYH
PubMed287 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:23:11 CEST 2021

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