InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MSH2

Summary

InnateDB Gene

IDBG-50900.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MSH2

Gene Name

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

Synonyms

COCA1; FCC1; HNPCC; HNPCC1; LCFS2

Species

Homo sapiens

Ensembl Gene

ENSG00000095002

Encoded Proteins

IDBP-50902

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

IDBP-293510

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

IDBP-374902

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

IDBP-590168

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

IDBP-812481

mutS homolog 2

IDBP-812485

mutS homolog 2

IDBP-812487

mutS homolog 2

IDBP-812490

mutS homolog 2

IDBP-812494

mutS homolog 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:47402969-47562311

Strand

Forward strand

Band

p21

Transcripts

ENST00000233146	ENSP00000233146
ENST00000406134	ENSP00000384199
ENST00000454849	ENSP00000411482
ENST00000461394
ENST00000467323
ENST00000543555	ENSP00000442697
ENST00000621359	ENSP00000481416
ENST00000617938	ENSP00000481158
ENST00000610696	ENSP00000483159
ENST00000613514	ENSP00000484137
ENST00000617333	ENSP00000482468

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 130 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	132 [view]
Protein-Protein	132 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0000400	four-way junction DNA binding
GO:0000403	Y-form DNA binding
GO:0000404	heteroduplex DNA loop binding
GO:0000406	double-strand/single-strand DNA junction binding
GO:0003677	DNA binding
GO:0003684	damaged DNA binding
GO:0003690	double-stranded DNA binding
GO:0003697	single-stranded DNA binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008022	protein C-terminus binding
GO:0008094	DNA-dependent ATPase activity
GO:0016887	ATPase activity
GO:0019237	centromeric DNA binding
GO:0019899	enzyme binding
GO:0019901	protein kinase binding
GO:0030983	mismatched DNA binding
GO:0032137	guanine/thymine mispair binding
GO:0032139	dinucleotide insertion or deletion binding
GO:0032142	single guanine insertion binding
GO:0032143	single thymine insertion binding
GO:0032181	dinucleotide repeat insertion binding
GO:0032357	oxidized purine DNA binding
GO:0032405	MutLalpha complex binding
GO:0042803	protein homodimerization activity
GO:0043531	ADP binding

Biological Process

GO:0000710	meiotic mismatch repair
GO:0001701	in utero embryonic development
GO:0002204	somatic recombination of immunoglobulin genes involved in immune response
GO:0006119	oxidative phosphorylation
GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0006298	mismatch repair
GO:0006301	postreplication repair
GO:0006302	double-strand break repair
GO:0006311	meiotic gene conversion
GO:0006974	cellular response to DNA damage stimulus
GO:0007050	cell cycle arrest
GO:0007281	germ cell development
GO:0008340	determination of adult lifespan
GO:0008584	male gonad development
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010165	response to X-ray
GO:0010224	response to UV-B
GO:0016446	somatic hypermutation of immunoglobulin genes
GO:0016447	somatic recombination of immunoglobulin gene segments
GO:0019724	B cell mediated immunity
GO:0030183	B cell differentiation
GO:0031573	intra-S DNA damage checkpoint
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0043524	negative regulation of neuron apoptotic process
GO:0043570	maintenance of DNA repeat elements
GO:0045128	negative regulation of reciprocal meiotic recombination
GO:0045190	isotype switching
GO:0045910	negative regulation of DNA recombination
GO:0051096	positive regulation of helicase activity

Cellular Component

GO:0000228	nuclear chromosome
GO:0005634	nucleus
GO:0016020	membrane
GO:0032301	MutSalpha complex
GO:0032302	MutSbeta complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024151

View Gene Order

ENSBTAG00000002742

Not yet available

Pathways

NETPATH

REACTOME

REACT_228145

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway

REACT_228019

Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway

REACT_228013

Mismatch Repair pathway

REACT_216

DNA Repair pathway

KEGG

hsa05210

Colorectal cancer pathway

hsa03430

Mismatch repair pathway

hsa05200

Pathways in cancer pathway

INOH

PID NCI

p53downstreampathway

Direct p53 effectors

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.597656

RefSeq

NM_000251 NM_001258281 XM_005264332

HUGO

OMIM

CCDS

CCDS1834 CCDS58709

HPRD

00389

IMGT

EMBL

GenPept

RNA Seq Atlas