Property Summary

NCBI Gene PubMed Count 278
Grant Count 309
R01 Count 193
Funding $27,306,872.04
PubMed Score 538.75
PubTator Score 545.79

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P52701 B4DF41 B4E3I4 F5H2F9 O43706 O43917 Q8TCX4 Q9BTB5 hMSH6
Symbols GTBP
HSAP
p160
GTMBP
HNPCC5

Gene

PDB

2GFU   2O8B   2O8C   2O8D   2O8E   2O8F  

Gene RIF (243)

PMID Text
27013479 In Lynch syndrome families, prostate cancer was associated with mutations in MSH6 with loss of the mismatch repair protein.
26805314 microsatellite instability-high and loss of MSH6 were found. Based on these results, genetic testing of MSH6 revealed a frame-shift mutation in codon 604
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.
26224637 MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps
26215063 MSH2, MSH6, and EXO1 genes were overexpressed in gastroesophageal cancers.
26099011 Heterogenous MSH6 loss is uncommon, usually caused by instability in MSH6 exon 5 polycytosine tract, and not associated with germline MSH6 mutation.
26097592 Loss of MSH-2/MSH-6 expression was correlated with the right-colon location, poor and mucinous differentiation in colorectal adenocarcinoma.
25664706 When controlling for surgical and pathologic factors, mismatch repair protein expression did not predict lymph node yield after colectomy for Colon cancer .
25503122 The survival time of patients with osteosarcoma may be predicted by local expression of MSH6 and MSH2/6 in surgical primary tumor resections.
25431869 After a short turnaround time of less than 3 weeks, the diagnosis of CMMR-D could be confirmed by the identification of a homozygous 29-bp deletion in MSH6 (exon 6), which was confirmed by independent methods.
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AA Sequence

MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSPGGDAAWSEAGPGPRPLARSASPPKAK      1 - 70
NLNGGLRRSVAPAAPTSCDFSPGDLVWAKMEGYPWWPCLVYNHPFDGTFIREKGKSVRVHVQFFDDSPTR     71 - 140
GWVSKRLLKPYTGSKSKEAQKGGHFYSAKPEILRAMQRADEALNKDKIKRLELAVCDEPSEPEEEEEMEV    141 - 210
GTTYVTDKSEEDNEIESEEEVQPKTQGSRRSSRQIKKRRVISDSESDIGGSDVEFKPDTKEEGSSDEISS    211 - 280
GVGDSESEGLNSPVKVARKRKRMVTGNGSLKRKSSRKETPSATKQATSISSETKNTLRAFSAPQNSESQA    281 - 350
HVSGGGDDSSRPTVWYHETLEWLKEEKRRDEHRRRPDHPDFDASTLYVPEDFLNSCTPGMRKWWQIKSQN    351 - 420
FDLVICYKVGKFYELYHMDALIGVSELGLVFMKGNWAHSGFPEIAFGRYSDSLVQKGYKVARVEQTETPE    421 - 490
MMEARCRKMAHISKYDRVVRREICRIITKGTQTYSVLEGDPSENYSKYLLSLKEKEEDSSGHTRAYGVCF    491 - 560
VDTSLGKFFIGQFSDDRHCSRFRTLVAHYPPVQVLFEKGNLSKETKTILKSSLSCSLQEGLIPGSQFWDA    561 - 630
SKTLRTLLEEEYFREKLSDGIGVMLPQVLKGMTSESDSIGLTPGEKSELALSALGGCVFYLKKCLIDQEL    631 - 700
LSMANFEEYIPLDSDTVSTTRSGAIFTKAYQRMVLDAVTLNNLEIFLNGTNGSTEGTLLERVDTCHTPFG    701 - 770
KRLLKQWLCAPLCNHYAINDRLDAIEDLMVVPDKISEVVELLKKLPDLERLLSKIHNVGSPLKSQNHPDS    771 - 840
RAIMYEETTYSKKKIIDFLSALEGFKVMCKIIGIMEEVADGFKSKILKQVISLQTKNPEGRFPDLTVELN    841 - 910
RWDTAFDHEKARKTGLITPKAGFDSDYDQALADIRENEQSLLEYLEKQRNRIGCRTIVYWGIGRNRYQLE    911 - 980
IPENFTTRNLPEEYELKSTKKGCKRYWTKTIEKKLANLINAEERRDVSLKDCMRRLFYNFDKNYKDWQSA    981 - 1050
VECIAVLDVLLCLANYSRGGDGPMCRPVILLPEDTPPFLELKGSRHPCITKTFFGDDFIPNDILIGCEEE   1051 - 1120
EQENGKAYCVLVTGPNMGGKSTLMRQAGLLAVMAQMGCYVPAEVCRLTPIDRVFTRLGASDRIMSGESTF   1121 - 1190
FVELSETASILMHATAHSLVLVDELGRGTATFDGTAIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNV   1191 - 1260
AVRLGHMACMVENECEDPSQETITFLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKAREFEKMNQSL   1261 - 1330
RLFREVCLASERSTVDAEAVHKLLTLIKEL                                           1331 - 1360
//

Text Mined References (308)

PMID Year Title
27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
26805314 2015 [A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation].
26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26224637 2015 Evidence that the DNA mismatch repair system removes 1-nucleotide Okazaki fragment flaps.
26215063 2015 Mismatch repair gene expression in gastroesophageal cancers.
26099011 2015 Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas.
26097592 2015 Relationship between MLH-1, MSH-2, PMS-2,MSH-6 expression and clinicopathological features in colorectal cancer.
25664706 2015 Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?
25503122 2014 Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma.
More...