MSH6

MSH6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2O8F, 2GFU, 2O8B, 2O8C, 2O8D, 2O8E
Identifiers
Aliases	MSH6, mutS homolog 6, GTBP, GTMBP, HNPCC5, HSAP, p160, MMRCS3, MSH-6
External IDs	OMIM: 600678; MGI: 1343961; HomoloGene: 149; GeneCards: MSH6; OMA:MSH6 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p16.3 Start 47,695,530 bp[1] End 47,810,063 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 E4|17 57.87 cM Start 88,282,490 bp[2] End 88,298,320 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone embryo ganglionic eminence secondary oocyte gonad ovary tendon of biceps brachii left ovary cartilage tissue Achilles tendon Top expressed in zygote epiblast secondary oocyte primitive streak primary oocyte tail of embryo genital tubercle abdominal wall Gonadal ridge thymus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding DNA binding protein homodimerization activity mismatched DNA binding ADP binding chromatin binding oxidized purine DNA binding methylated histone binding damaged DNA binding ATPase activity protein binding single thymine insertion binding four-way junction DNA binding MutLalpha complex binding double-stranded DNA binding ATP binding magnesium ion binding single guanine insertion binding guanine/thymine mispair binding ATP-dependent activity, acting on DNA enzyme binding Cellular component Golgi apparatus intracellular membrane-bounded organelle MutSalpha complex nucleoplasm chromosome nucleus cytosol mismatch repair complex Biological process determination of adult lifespan cellular response to DNA damage stimulus positive regulation of isotype switching intrinsic apoptotic signaling pathway maintenance of DNA repeat elements positive regulation of helicase activity somatic recombination of immunoglobulin gene segments negative regulation of DNA recombination DNA mismatch repair viral process DNA repair meiotic mismatch repair intrinsic apoptotic signaling pathway in response to DNA damage response to UV somatic hypermutation of immunoglobulin genes isotype switching pyrimidine dimer repair mitotic G2 DNA damage checkpoint signaling negative regulation of DNA endoreduplication interstrand cross-link repair replication fork arrest Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2956 17688 Ensembl ENSG00000116062 ENSMUSG00000005370 UniProt P52701 P54276 RefSeq (mRNA) NM_000179 NM_001281492 NM_001281493 NM_001281494 NM_010830 RefSeq (protein) NP_000170 NP_001268421 NP_001268422 NP_001268423 NP_034960 Location (UCSC) Chr 2: 47.7 – 47.81 Mb Chr 17: 88.28 – 88.3 Mb PubMed search [3] [4]
Wikidata
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MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.

Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the Amsterdam criteria for HNPCC. hMSH6 mutations have also been linked to endometrial cancer and the development of endometrial carcinomas.