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Gene Ontology Classifications
mutS homolog 2 (E. coli)

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Msh2. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 23, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
  1. Andrew SE et al. (1997) Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2 deficient mice. Oncogene, 15:123-9. (PubMed:9244348)
  2. Andrew SE et al. (2000) Mutagenesis in PMS2- and MSH2-deficient mice indicates differential protection from transversions and frameshifts Carcinogenesis, 21:1291-6. (PubMed:10874005)
  3. Bourn RL et al. (2012) Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues. PLoS One, 7:e47085. (PubMed:23071719)
  4. Cranston A et al. (1997) Female embryonic lethality in mice nullizygous for both Msh2 and p53. Nat Genet, 17:114-8. (PubMed:9288110)
  5. de Wind N et al. (1998) Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res, 58:248-55. (PubMed:9443401)
  6. de Wind N et al. (1999) HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nat Genet, 23:359-62. (PubMed:10545954)
  7. de Wind N et al. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell, 82:321-30. (PubMed:7628020)
  8. Egashira A et al. (2002) Mutational specificity of mice defective in the MTH1 and/or the MSH2 genes. DNA Repair (Amst), 1:881-93. (PubMed:12531017)
  9. Fink D et al. (1997) In vitro and in vivo resistance to cisplatin in cells that have lost DNA mismatch repair. Cancer Res, 57:1841-5. (PubMed:9157971)
  10. Franchitto A et al. (2003) The mammalian mismatch repair protein MSH2 is required for correct MRE11 and RAD51 relocalization and for efficient cell cycle arrest induced by ionizing radiation in G2 phase. Oncogene, 22:2110-20. (PubMed:12687013)
  11. Francisconi S et al. (2006) Mitochondrial dysfunction and increased sensitivity to excitotoxicity in mice deficient in DNA mismatch repair. J Neurochem, 98:223-33. (PubMed:16805809)
  12. Frey S et al. (1998) Mismatch repair deficiency interferes with the accumulation of mutations in chronically stimulated B cells and not with the hypermutation process. Immunity, 9:127-34. (PubMed:9697842)
  13. Hegan DC et al. (2006) Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6. Carcinogenesis, 27:2402-8. (PubMed:16728433)
  14. Jansen L et al. (2000) Acceleration of lymphomagenesis in mismatch-repair deficient mice by exposure to genotoxic agents. Toxicol Lett, 112-113:245-50. (PubMed:10720738)
  15. Jenab-Wolcott J et al. (2000) The absence of msh2 alters abelson virus pre-B-cell transformation by influencing p53 mutation Mol Cell Biol, 20:8373-81. (PubMed:11046134)
  16. Kolas NK et al. (2005) Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I. J Cell Biol, 171:447-58. (PubMed:16260499)
  17. Lin DP et al. (2004) An Msh2 point mutation uncouples DNA mismatch repair and apoptosis. Cancer Res, 64:517-22. (PubMed:14744764)
  18. Manley K et al. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet, 23:471-3. (PubMed:10581038)
  19. Martin A et al. (2003) Msh2 ATPase activity is essential for somatic hypermutation at a-T basepairs and for efficient class switch recombination. J Exp Med, 198:1171-8. (PubMed:14568978)
  20. Min IM et al. (2005) Shifts in targeting of class switch recombination sites in mice that lack {micro} switch region tandem repeats or Msh2. J Exp Med, 201:1885-90. (PubMed:15955838)
  21. Min IM et al. (2003) The Smu tandem repeat region is critical for Ig isotype switching in the absence of Msh2. Immunity, 19:515-24. (PubMed:14563316)
  22. Paul C et al. (2007) Deletion of genes implicated in protecting the integrity of male germ cells has differential effects on the incidence of DNA breaks and germ cell loss. PLoS ONE, 2:e989. (PubMed:17912366)
  23. Phung QH et al. (1998) Increased hypermutation at G and C nucleotides in immunoglobulin variable genes from mice deficient in the MSH2 mismatch repair protein. J Exp Med, 187:1745-51. (PubMed:9607916)
  24. Rada C et al. (1998) Hot spot focusing of somatic hypermutation in MSH2-deficient mice suggests two stages of mutational targeting. Immunity, 9:135-41. (PubMed:9697843)
  25. Rada C et al. (2004) Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation. Mol Cell, 16:163-71. (PubMed:15494304)
  26. Reitmair AH et al. (1996) Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. Cancer Res, 56:3842-9. (PubMed:8706033)
  27. Reitmair AH et al. (1995) MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nat Genet, 11:64-70. (PubMed:7550317)
  28. Sansom OJ et al. (2001) Msh-2 suppresses in vivo mutation in a gene dose and lesion dependent manner. Oncogene, 20:3580-4. (PubMed:11429706)
  29. Schrader CE et al. (2002) Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions. J Exp Med, 195:367-73. (PubMed:11828012)
  30. Schrader CE et al. (1999) Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes [see comments] J Exp Med, 190:323-30. (PubMed:10430621)
  31. Schrader CE et al. (2003) Mlh1 can function in antibody class switch recombination independently of Msh2. J Exp Med, 197:1377-83. (PubMed:12743174)
  32. Smits R et al. (2000) Somatic apc mutations are selected upon their capacity to inactivate the beta-catenin downregulating activity Genes Chromosomes Cancer, 29:229-39. (PubMed:10992298)
  33. Toft NJ et al. (1999) Msh2 status modulates both apoptosis and mutation frequency in the murine small intestine. Proc Natl Acad Sci U S A, 96:3911-5. (PubMed:10097137)
  34. van Oosten M et al. (2005) Mismatch repair protein Msh2 contributes to UVB-induced cell cycle arrest in epidermal and cultured mouse keratinocytes. DNA Repair (Amst), 4:81-9. (PubMed:15533840)
  35. Vora KA et al. (1999) Severe attenuation of the B cell immune response in Msh2-deficient mice. J Exp Med, 189:471-82. (PubMed:9927509)
  36. Yoshioka K et al. (2006) ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. Mol Cell, 22:501-10. (PubMed:16713580)
  37. Young LC et al. (2004) DNA mismatch repair proteins promote apoptosis and suppress tumorigenesis in response to UVB irradiation: an in vivo study. Carcinogenesis, 25:1821-7. (PubMed:15166087)
  38. Zhang S et al. (2002) Thymic lymphomas arising in Msh2 deficient mice display a large increase in mutation frequency and an altered mutational spectrum. Mutat Res, 500:67-74. (PubMed:11890935)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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