Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
MUTYH-6 E452del [nucleoplasm]
Stable Identifier
R-HSA-9606709
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-6 Glu452del, MUTYH gamma-3 E452del, MUTYH gamma-3 Glu452del
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Base Excision Repair (Homo sapiens)
Defective Base Excision Repair Associated with MUTYH (Homo sapiens)
Defective MUTYH substrate processing (Homo sapiens)
Defective MUTYH mutants do not cleave adenine mispaired with 8-oxoguanine (Homo sapiens)
MUTYH LOF mutants:(8oxoG:Ade)-dsDNA [nucleoplasm] (Homo sapiens)
MUTYH LOF mutants [nucleoplasm] (Homo sapiens)
MUTYH-3 E466del,MUTYH-6 E452del [nucleoplasm] (Homo sapiens)
MUTYH-6 E452del [nucleoplasm] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
20848659
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer
Shinmura, K
,
Goto, M
,
Sugimura, H
,
Tsuneyoshi, T
,
Nakabeppu, Y
,
Yamada, H
,
Tao, H
Hum. Mutat.
2010
External Reference Information
External Reference
UniProt:Q9UIF7-6 MUTYH
Gene Names
MUTYH, MYH
Other Identifiers
11734568_a_at
16686401
207727_PM_s_at
207727_s_at
2410112
2410113
2410114
2410115
2410116
2410117
2410118
2410119
2410120
2410121
2410122
2410123
2410124
2410125
2410126
2410127
2410128
2410129
2410130
2410131
2410132
2410133
2410134
2410135
2410136
2410137
2410138
2410139
2410140
2410141
2410142
2410143
2410144
2410145
2410146
2410147
2410148
2410149
2410150
2410151
2410152
2410153
4595
489_at
490_g_at
7915695
A_23_P51660
A_24_P910898
GE80793
GO:0000701
GO:0003677
GO:0003824
GO:0005515
GO:0005634
GO:0005654
GO:0005739
GO:0006281
GO:0006284
GO:0006298
GO:0006950
GO:0016787
GO:0016798
GO:0019104
GO:0032357
GO:0032407
GO:0034039
GO:0035485
GO:0043226
GO:0045007
GO:0046872
GO:0051539
GO:0060546
GO:0140097
HMNXSV003054539
ILMN_1714438
ILMN_2277537
ILMN_2336970
PH_hs_0013965
TC01002607.hg
U63329_at
g6912519_3p_a_at
Participates
as a member of
MUTYH-3 E466del,MUTYH-6 E452del [nucleoplasm] (Homo sapiens)
Other forms of this molecule
MUTYH-6 [nucleoplasm]
MUTYH-6 G368D [nucleoplasm]
MUTYH-6 Y151C [nucleoplasm]
MUTYH-6 M255V [nucleoplasm]
MUTYH-6 I195V [nucleoplasm]
MUTYH-6 P377L [nucleoplasm]
MUTYH-6 R154H [nucleoplasm]
MUTYH-6 L360P [nucleoplasm]
Modified Residues
Name
Deletion of residues 452 to 452
Disease
Name
Identifier
Synonyms
familial adenomatous polyposis
DOID:0050424
adenomatous polyposis of the colon
colorectal cancer
DOID:9256
Cross References
OpenTargets
ENSG00000132781
ENSEMBL
ENSP00000409718
,
ENST00000448481
,
ENSP00000361182
,
ENST00000372110
,
ENSP00000361187
,
ENST00000435155
,
ENSP00000361176
,
ENST00000372098
,
ENST00000456914
,
ENST00000672314
,
ENSP00000500891
,
ENST00000372115
,
ENSP00000407590
,
ENST00000372104
,
ENSP00000500828
,
ENST00000672818
,
ENST00000355498
,
ENST00000354383
,
ENSP00000346354
,
ENSP00000347685
,
ENSP00000403655
,
ENSP00000361170
HPA
ENSG00000132781-MUTYH
PRO
Q9UIF7
Pharos - Targets
Q9UIF7
Orphanet
MUTYH
PDB
8FAY
,
3N5N
,
1X51
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text