MSH2

MSH2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2O8B, 2O8C, 2O8D, 2O8E, 2O8F, 3THW, 3THX, 3THY, 3THZ
Identifiers
Aliases	MSH2, mutS homolog 2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, hMMRCS2, MSH-2
External IDs	OMIM: 609309; MGI: 101816; HomoloGene: 210; GeneCards: MSH2; OMA:MSH2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21-p16.3 Start 47,403,067 bp[1] End 47,663,146 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 E4|17 57.87 cM Start 87,979,758 bp[2] End 88,031,141 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte ventricular zone ganglionic eminence gonad retinal pigment epithelium testicle middle frontal gyrus Brodmann area 10 rectum cerebellar hemisphere Top expressed in primitive streak saccule epiblast otic placode otic vesicle tail of embryo somite zygote secondary oocyte abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding nucleotide binding protein homodimerization activity mismatched DNA binding dinucleotide insertion or deletion binding ADP binding centromeric DNA binding oxidized purine DNA binding single-stranded DNA binding damaged DNA binding ATPase activity protein C-terminus binding protein binding single thymine insertion binding four-way junction DNA binding MutLalpha complex binding enzyme binding double-stranded DNA binding dinucleotide repeat insertion binding ATP binding protein kinase binding magnesium ion binding single guanine insertion binding guanine/thymine mispair binding Y-form DNA binding heteroduplex DNA loop binding double-strand/single-strand DNA junction binding ATP-dependent activity, acting on DNA chromatin binding Cellular component MutSbeta complex membrane MutSalpha complex nucleoplasm mismatch repair complex nucleus chromosome Biological process negative regulation of neuron apoptotic process germ cell development male gonad development postreplication repair determination of adult lifespan in utero embryonic development cellular response to DNA damage stimulus oxidative phosphorylation maintenance of DNA repeat elements positive regulation of helicase activity somatic recombination of immunoglobulin gene segments intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of DNA recombination somatic recombination of immunoglobulin genes involved in immune response DNA mismatch repair B cell differentiation B cell mediated immunity DNA repair positive regulation of isotype switching to IgA isotypes positive regulation of isotype switching to IgG isotypes double-strand break repair meiotic gene conversion response to X-ray response to UV-B somatic hypermutation of immunoglobulin genes mitotic intra-S DNA damage checkpoint signaling intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of reciprocal meiotic recombination isotype switching protein localization to chromatin DNA recombination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4436 17685 Ensembl ENSG00000095002 ENSMUSG00000024151 UniProt P43246 P43247 RefSeq (mRNA) NM_000251 NM_001258281 NM_008628 RefSeq (protein) NP_000242 NP_001245210 NP_032654 Location (UCSC) Chr 2: 47.4 – 47.66 Mb Chr 17: 87.98 – 88.03 Mb PubMed search [3] [4]
Wikidata
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DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2. MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex. MSH2 is involved in many different forms of DNA repair, including transcription-coupled repair,^[5] homologous recombination,^[6] and base excision repair.^[7]

Mutations in the MSH2 gene are associated with microsatellite instability and some cancers, especially with hereditary nonpolyposis colorectal cancer (HNPCC). At least 114 disease-causing mutations in this gene have been discovered.^[8]