Gene Report

Basic Information

Approved Symbol	MSH2
Approved Name	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
Previous Symbol	COCA1
Previous Name	mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)
Symbol Alias	HNPCC, HNPCC1
Location	2p21
Position	chr2:47630206-47710367 (+)
External Links	Entrez Gene: 4436 Ensembl: ENSG00000095002 UCSC: uc002rvy.1 HGNC ID: 7325
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Positive relationships between MSH2 and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
mutS homolog 2	Tochigi, 2008	patients and normal controls		Genes differentially expressed in major depression Genes differentially expressed in major depression

Positive relationships between MSH2 and other components at different levels (count: 0)

Positive relationship network of MSH2 in MK4MDD

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Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between MSH2 and MDD (count: 0)

Negative relationships between MSH2 and other components at different levels (count: 0)

MSH2 related SNPs in MK4MDD (count: 0)

MSH2 related proteins in MK4MDD (count: 1)

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
DNA mismatch repair protein Msh2	P43246	0(0/0)	Gene mapped

MSH2 related GO terms (count: 66)

ID	Name	Type	Evidence
Literature-origin GO terms
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IDA[15105434]
GO:0032553	ribonucleotide binding	molecular function	IDA[15105434]
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0000287	magnesium ion binding	molecular function	IDA[16403449]
GO:0032357	oxidized purine DNA binding	molecular function	IDA[11801590]
GO:0032142	single guanine insertion binding	molecular function	IDA[8942985]
GO:0016446	somatic hypermutation of immunoglobulin genes	biological process	IBA
GO:0032301	MutSalpha complex	cellular component	IDA[8942985]
GO:0006298	mismatch repair	biological process	IDA[11555625]
GO:0043524	negative regulation of neuron apoptotic process	biological process	ISS
GO:0003677	DNA binding	molecular function	IDA[7923193]
GO:0007050	cell cycle arrest	biological process	IEA
GO:0008094	DNA-dependent ATPase activity	molecular function	IBA
GO:0019899	enzyme binding	molecular function	IPI[17715146]
GO:0019724	B cell mediated immunity	biological process	ISS
GO:0045128	negative regulation of reciprocal meiotic recombination	biological process	IBA
GO:0000400	four-way junction DNA binding	molecular function	IDA[12034830]
GO:0032143	single thymine insertion binding	molecular function	IDA[8942985]
GO:0000228	nuclear chromosome	cellular component	IBA
GO:0031573	intra-S DNA damage checkpoint	biological process	IBA
GO:0019237	centromeric DNA binding	molecular function	IEA
GO:0010165	response to X-ray	biological process	IBA; ISS
GO:0005524	ATP binding	molecular function	IDA[15105434]
GO:0000406	double-strand/single-strand DNA junction binding	molecular function	IBA
GO:0000404	loop DNA binding	molecular function	IBA
GO:0000710	meiotic mismatch repair	biological process	IBA
GO:0016887	ATPase activity	molecular function	IDA[16403449]
GO:0043570	maintenance of DNA repeat elements	biological process	IMP[16388310]
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	biological process	IBA
GO:0030983	mismatched DNA binding	molecular function	IDA[11801590]
GO:0019901	protein kinase binding	molecular function	IPI[14657349]
GO:0006200	ATP catabolic process	biological process	IDA[16403449]
GO:0032181	dinucleotide repeat insertion binding	molecular function	IDA[8942985]
GO:0006119	oxidative phosphorylation	biological process	IEA
GO:0006311	meiotic gene conversion	biological process	IBA
GO:0045190	isotype switching	biological process	IBA; ISS
GO:0005515	protein binding	molecular function	IPI[19596235]; IPI[16403449]
GO:0006301	postreplication repair	biological process	IDA[7923193]
GO:0000403	Y-form DNA binding	molecular function	IBA
GO:0032302	MutSbeta complex	cellular component	IDA[8942985]
GO:0006302	double-strand break repair	biological process	IBA
GO:0016447	somatic recombination of immunoglobulin gene segments	biological process	ISS
GO:0045910	negative regulation of DNA recombination	biological process	IDA[17715146]; ISS
GO:0007281	germ cell development	biological process	IEA
GO:0001701	in utero embryonic development	biological process	IEA
GO:0051096	positive regulation of helicase activity	biological process	IDA[17715146]
GO:0043531	ADP binding	molecular function	IDA[15105434]
GO:0003690	double-stranded DNA binding	molecular function	IDA[11809883]
GO:0032137	guanine/thymine mispair binding	molecular function	IDA[11809883]; IMP[16713580]
GO:0032139	dinucleotide insertion or deletion binding	molecular function	IDA[8942985]
GO:0008340	determination of adult lifespan	biological process	IEA
GO:0008584	male gonad development	biological process	ISS
GO:0042803	protein homodimerization activity	molecular function	IDA[8942985]
GO:0032405	MutLalpha complex binding	molecular function	IDA[16403449]
GO:0008022	protein C-terminus binding	molecular function	IPI[14706347]
GO:0003697	single-stranded DNA binding	molecular function	IDA[11809883]
GO:0030183	B cell differentiation	biological process	ISS
GO:0010224	response to UV-B	biological process	IBA; ISS
GO:0006281	DNA repair	biological process	IDA[8942985]

MSH2 related KEGG pathways (count: 3)

ID	Name	Brief Description	Full Description
Gene mapped KEGG pathways
hsa03430	mismatch repair	Mismatch repair	DNA mismatch repair (MMR) is a highly conserved biological p...... DNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preventing mutations from becoming permanent in dividing cells. MMR also suppresses homologous recombination and was recently shown to play a role in DNA damage signaling. Defects in MMR are associated with genome-wide instability, predisposition to certain types of cancer including HNPCC, resistance to certain chemotherapeutic agents, and abnormalities in meiosis and sterility in mammalian systems. The Escherichia coli MMR pathway has been extensively studied and is well characterized. In E. coli, the mismatch-activated MutS-MutL-ATP complex licenses MutH to incise the nearest unmethylated GATC sequence. UvrD and an exonuclease generate a gap. This gap is filled by pol III and DNA ligase. The GATC sites are then methylated by Dam. Several human MMR proteins have been identified based on their homology to E. coli MMR proteins. These include human homologs of MutS and MutL. Although E. coli MutS and MutL proteins are homodimers, human MutS and MutL homologs are heterodimers. The role of hemimethylated dGATC sites as a signal for strand discrimination is not conserved from E. coli to human. Human MMR is presumed to be nick-directed in vivo, and is thought to discriminate daughter and template strands using a strand-specific nick. More...
hsa05210	colorectal cancer	Colorectal cancer	Classically, colorectal cancer (CRC) has been believed to de...... Classically, colorectal cancer (CRC) has been believed to develop from normal mucosa through the premalignant adenoma by the step-wise accumulation of mutations. All CRC display either microsatellite instability (MSI) or chromosome instability (CIN). MSI occurs in 15% of colon cancers and results from inactivation of the DNA mismatch repair (MMR) system by either MMR gene mutations or hypermethylation of the MLH1 promoter. MSI promotes tumorigenesis through generating mutations in target genes that possess coding microsatellite repeats, such as beta-catenin, TGFBR2 and BAX. CIN is found in the majority of colon cancers and leads to a different pattern of gene alterations that contribute to tumor formation. Genes involved in CIN are those coding for APC, K-ras, SMAD4 and p53. More...
hsa05200	pathways in_cancer	Pathways in cancer

MSH2 related BioCarta pathways (count: 0)

MSH2 related Reactome pathways (count: 0)

MSH2 related interactors from protein-protein interaction data in HPRD (count: 11)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
MSH2	CREBBP	Yes	in vitro;in vivo	16051665
MSH2	MSH3	Yes	in vitro;in vivo;yeast 2-hybrid	9774676 , 8942985
MSH2	ATR	No	in vitro;in vivo	14657349
MSH2	EXO1	No	in vitro;in vivo;yeast 2-hybrid	10856833 , 9788596 , 11429708 , 14676842 , 19015241
MSH2	SMC1A	No	in vitro	14657349
MSH2	MAX	No	in vitro;in vivo	12584560
MSH2	CHEK2	No	in vitro;in vivo	12447371
MSH2	BARD1	No	in vitro	11498787
MSH2	TREX1	No	in vivo	14657349
MSH2	MSH6	No	in vitro;in vivo;yeast 2-hybrid	9774676 , 8942985
MSH2	PCNA	No	in vitro	12171929 , 8858149

Gene Report

Literature-origin GO terms

Gene mapped GO terms

Gene mapped KEGG pathways