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
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
mutS homolog 2
mutS homolog 2
mutS homolog 2
mutS homolog 2
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway
Mismatch Repair pathway
DNA Repair pathway
KEGG
Mismatch repair pathway
Pathways in cancer pathway
Colorectal cancer pathway
INOH
PID BIOCARTA
PID NCI
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