Property Summary

NCBI Gene PubMed Count 634
Grant Count 545
R01 Count 350
Funding $51,198,744.5
PubMed Score 1414.97
PubTator Score 1540.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
group 3 medulloblastoma 1.800 0.000
atypical teratoid/rhabdoid tumor 1.300 0.000
medulloblastoma, large-cell 1.300 0.000
non-small cell lung cancer 1.686 0.000
lung cancer 2.500 0.000
diabetes mellitus -1.100 0.001
Breast cancer 1.900 0.048
nasopharyngeal carcinoma 1.200 0.002
lung adenocarcinoma 1.212 0.000
acute myeloid leukemia -1.400 0.028
ovarian cancer 1.500 0.000
pituitary cancer 1.100 0.000

Synonym

Accession P43246 B4E2Z2 O75488 hMSH2
Symbols FCC1
COCA1
HNPCC
LCFS2
HNPCC1

Gene

PDB

2O8B   2O8C   2O8D   2O8E   2O8F   3THW   3THX   3THY   3THZ  

Gene RIF (567)

PMID Text
27069191 The proportion of deaths from extra-colonic cancer was significantly higher in Japanese families with Lynch syndrome with MSH2 mutation
27013479 In Lynch syndrome families, prostate cancer was associated with mutations in MSH2 with loss of the mismatch repair protein.
26728996 data supported an interdependence of mismatch repair proteins, particularly MLH1 and MSH2, in the mediation of apoptosis in human colorectal carcinoma cell lines
26544533 Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome.
26498247 Authors propose an Alu-mediated recombination model to explain the origin of the cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.
26477961 Pathogenic mutations were only confined to MSH2 and identified in 28.8% of Singapore families with Hereditary Colorectal Cancer.
26381082 foot-drop is frequently associated with NEB gene mutations . This result supports the indication deriving from the yeast model that BRCA1 driven tumorigenesis may be modulated by MSH2.
26224637 MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps
26221039 study identifies an HDAC10-mediated regulatory mechanism controlling the DNA mismatch repair function of MSH2.
26215063 MSH2, MSH6, and EXO1 genes were overexpressed in gastroesophageal cancers.
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AA Sequence

MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPA      1 - 70
GAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNND     71 - 140
MSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDM    141 - 210
GKLRQIIQRGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELL    211 - 280
SDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPL    281 - 350
MDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQA    351 - 420
LEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEK    421 - 490
KMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLN    491 - 560
EEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAILEKGQG    561 - 630
RIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESA    631 - 700
EVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYI    701 - 770
ATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHV    771 - 840
IECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITIKLKQ    841 - 910
LKAEVIAKNNSFVNEIISRIKVTT                                                  911 - 934
//

Text Mined References (679)

PMID Year Title
27069191 2016 Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.
27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
26728996 2016 Interdependence of DNA mismatch repair proteins MLH1 and MSH2 in apoptosis in human colorectal carcinoma cell lines.
26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
26498247 2016 A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26477961 2015 Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
26381082 2015 MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
26224637 2015 Evidence that the DNA mismatch repair system removes 1-nucleotide Okazaki fragment flaps.
26221039 2015 Histone deacetylase 10 regulates DNA mismatch repair and may involve the deacetylation of MutS homolog 2.
More...