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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
Chromosome location (bp)
47403067 - 47663146
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containing DNA strand 1. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P43246 [Direct mapping] DNA mismatch repair protein Msh2
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000287[magnesium ion binding] GO:0000400[four-way junction DNA binding] GO:0000781[chromosome, telomeric region] GO:0001701[in utero embryonic development] GO:0002204[somatic recombination of immunoglobulin genes involved in immune response] GO:0003677[DNA binding] GO:0003682[chromatin 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:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006119[oxidative phosphorylation] GO:0006281[DNA repair] GO:0006298[mismatch repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006312[mitotic recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007281[germ cell development] GO:0008022[protein C-terminus binding] GO:0008094[ATP-dependent activity, acting on DNA] 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:0016020[membrane] GO:0016446[somatic hypermutation of immunoglobulin genes] GO:0016447[somatic recombination of immunoglobulin gene segments] GO:0016887[ATP hydrolysis activity] GO:0019237[centromeric DNA binding] GO:0019724[B cell mediated immunity] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030183[B cell differentiation] GO:0030983[mismatched DNA binding] GO:0031573[mitotic intra-S DNA damage checkpoint signaling] 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:0032300[mismatch repair complex] GO:0032301[MutSalpha complex] GO:0032302[MutSbeta complex] GO:0032357[oxidized purine DNA binding] GO:0032405[MutLalpha complex binding] GO:0042771[intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:0042803[protein homodimerization activity] GO:0043524[negative regulation of neuron apoptotic process] GO:0043531[ADP binding] GO:0043570[maintenance of DNA repeat elements] GO:0045190[isotype switching] GO:0045910[negative regulation of DNA recombination] GO:0048298[positive regulation of isotype switching to IgA isotypes] GO:0048304[positive regulation of isotype switching to IgG isotypes] GO:0050896[response to stimulus] GO:0051096[positive regulation of helicase activity] GO:0051726[regulation of cell cycle] GO:0071168[protein localization to chromatin] GO:0140664[ATP-dependent DNA damage sensor activity]
E9PHA6 [Direct mapping] DNA mismatch repair protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
P43246 [Direct mapping] DNA mismatch repair protein Msh2
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
A0A2R8Y6P0 [Direct mapping] DNA mismatch repair protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
