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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
12810667MSH2-deficient human cells exhibit a defect in the accurate termination of homology-directed repair of DNA double-strand breaks.Cancer Res2003 Jun 15Villemure JF-
24323032Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.J Clin Oncol2014 Jan 10Buchanan DDdoi: 10.1200/JCO.2013.51.2129
21091774Immunohistochemical expression of mismatch repair genes (hMSH2 and hMLH1) in hepatocellular carcinoma in Egypt.APMIS2010 DecHelal TEdoi: 10.1111/j.1600-0463.2010.02658.x
17275176Co-repression of mismatch repair gene expression by hypoxia in cancer cells: role of the Myc/Max network.Cancer Lett2007 Jul 8Bindra RS-
22433851Ectopically expressed human tumor biomarker MutS homologue 2 is a novel endogenous ligand that is recognized by human γ?? T cells to induce innate anti-tumor/virus immunity.J Biol Chem2012 May 11Dai Ydoi: 10.1074/jbc.M111.327650
19635727Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds.J Med Genet2010 FebGrindedal EMdoi: 10.1136/jmg.2009.068130
27261338Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.Gut2017 SepMller Pdoi: 10.1136/gutjnl-2016-311403
12684691Global DNA methylation in relation to hMLH1 and hMSH2 protein immunoreactivity in sporadic human endometrial carcinomas.Int J Mol Med2003 MayMiturski R-
15886699The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor alpha.Br J Cancer2005 Jun 20Wada-Hiraike O-
12549480Early onset brain tumor and lymphoma in MSH2-deficient children.Am J Hum Genet2003 JanBougeard G-
14562278Possible association between tumor-suppressor gene mutations and hMSH2/hMLH1 inactivation in alveolar soft part sarcoma.Hum Pathol2003 SepSaito T-
19390556Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation.Nat Rev Clin Oncol2009 MayJeans AFdoi: 10.1038/nrclinonc.2009.35.
21029181Expression of DNA repair proteins, MSH2, MLH1 and MGMT in mobile tongue squamous cell carcinoma: associations with clinicopathological parameters and patients' survival.J Oral Pathol Med2011 MarTheocharis Sdoi: 10.1111/j.1600-0714.2010.00945.x
25503122Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma.Anticancer Res2014 DecJentzsch T-
21358597Expression of DNA repair proteins MSH2, MLH1 and MGMT in human benign and malignant thyroid lesions: an immunohistochemical study.Med Sci Monit2011 Feb 25Giaginis C-
26077460Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions.J Dermatol2015 NovHatta Ndoi: 10.1111/1346-8138.12949
18331286Immunoexpression of hMSH2 and hMLH1 in oral squamous cell carcinoma and its relationship to histological grades of malignancy.J Oral Pathol Med2008 OctFernandes AMdoi: 10.1111/j.1600-0714.2008.00658.x
19464205Expression of hMLH1 and hMSH2 proteins in pleomorphic adenoma of minor salivary glands: relationship with clinical and histologic findings.Oral Surg Oral Med Oral Pathol Oral Radiol Endod2009 AugTob??n-Arroyave SIdoi: 10.1016/j.tripleo.2009.02.033
22883484Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.Eur Urol2013 FebSkeldon SCdoi: 10.1016/j.eururo.2012.07.047
15467433Mismatch repair gene expression and genetic instability in testicular germ cell tumor.Cancer Biol Ther2004 OctVelasco A-
22614019The Grainyhead transcription factor Grhl3/Get1 suppresses miR-21 expression and tumorigenesis in skin: modulation of the miR-21 target MSH2 by RNA-binding protein DND1.Oncogene2013 Mar 21Bhandari Adoi: 10.1038/onc.2012.168
28004223Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.Fam Cancer2017 JulMork MEdoi: 10.1007/s10689-016-9960-y.
29342268Reduced Expression of Mismatch Repair Genes MSH6/MSH2 Directly Promotes Pituitary Tumor Growth via the ATR-Chk1 Pathway.J Clin Endocrinol Metab2018 Mar 1Uraki Sdoi: 10.1210/jc.2017-02332.
28790115MSH2 Loss in Primary Prostate Cancer.Clin Cancer Res2017 Nov 15Guedes LBdoi: 10.1158/1078-0432.CCR-17-0955
27466510DNA Repair Gene Expression Levels as Indicators of Breast Cancer in the Breast Cancer Family Registry.Anticancer Res2016 AugKappil MA-
17160686Assessment of microsatellite instability in colorectal carcinoma at an Indian center.Int J Colorectal Dis2007 JulPandey V-
17922223Is MSH2 a breast cancer susceptibility gene?Fam Cancer2008Wong EM-
17109103The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer.Int J Colorectal Dis2007 JulWarusavitarne J-
23255516Cancer risks for MLH1 and MSH2 mutation carriers.Hum Mutat2013 MarDowty JGdoi: 10.1002/humu.22262.
21642682Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA2011 Jun 8Bonadona Vdoi: 10.1001/jama.2011.743.
15855819Defective DNA mismatch repair in long-term (> or =3 years) survivors with pancreatic cancer.Pancreatology2005Maple JT-
15735976Expression of the hMLH1 and hMSH2 proteins in normal tissues: relationship to cancer predisposition in hereditary non-polyposis colon cancer.Virchows Arch2005 FebPlevov?? P-
11782355Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.Cancer Res2002 Jan 1Shin KH-
19032668Expression and promoter methylation status of mismatch repair gene hMLH1 and hMSH2 in epithelial ovarian cancer.Aust N Z J Obstet Gynaecol2008 OctZhang Hdoi: 10.1111/j.1479-828X.2008.00892.x.
28176205Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.Fam Cancer2017 JulAkbari MRdoi: 10.1007/s10689-017-9973-1.
28779004Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.J Med Genet2017 NovGoldberg Mdoi: 10.1136/jmedgenet-2017-104542
24122742Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1.J Surg Oncol2013 DecLin-Hurtubise KMdoi: 10.1002/jso.23413
18822302Functional analysis of HNPCC-related missense mutations in MSH2.Mutat Res2008 Oct 14L??tzen Adoi: 10.1016/j.mrfmmm.2008.08.015
22386861Polymorphisms in MSH2 gene and risk of gastric cancer, and interactions with lifestyle factors in a Chinese population.Cancer Epidemiol2012 JunWang Ddoi: 10.1016/j.canep.2012.02.003
23434150Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?Eur J Cancer2013 MayWin AKdoi: 10.1016/j.ejca.2013.01.029
26477961Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.Ann Acad Med Singapore2015 AugChew MH-
25804231Polymorphism of DNA mismatch repair genes in endometrial cancer.Exp Oncol2015 MarPoplawski T-
17333219A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer.Int J Colorectal Dis2007 AugZheng D-
12203789A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.Genes Chromosomes Cancer2002 SepWagner A-
15571801Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.Cancer Genet Cytogenet2004 DecRey JM-
16086322The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.Hum Mutat2005 SepCharbonnier F-
21047769Context-dependent bidirectional regulation of the MutS homolog 2 by transforming growth factor β contributes to chemoresistance in breast cancer cells.Mol Cancer Res2010 DecYu Ydoi: 10.1158/1541-7786.MCR-10-0362
19582509Mitochondrial genomic instability in colorectal cancer: no correlation to nuclear microsatellite instability and allelic deletion of hMSH2, hMLH1, and p53 genes, but prediction of better survival for Dukes' stage C disease.Ann Surg Oncol2009 OctTsai MHdoi: 10.1245/s10434-009-0581-7
19861671Risk of pancreatic cancer in families with Lynch syndrome.JAMA2009 Oct 28Kastrinos Fdoi: 10.1001/jama.2009.1529.
16569647Microsatellite instability and methylation of the DNA mismatch repair genes in head and neck cancer.Ann Oncol2006 JunDemokan S-
18335504The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: re-annotation and mutational mechanisms.Genes Chromosomes Cancer2008 JunChen JMdoi: 10.1002/gcc.20556.
16902769Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer.J Cancer Res Clin Oncol2007 JanChaksangchaichot P-
16810763Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.World J Gastroenterol2006 Jul 7Wang XL-
16234028Chromoendoscopic colonoscopy for detecting preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndrome.Clin Gastroenterol Hepatol2005 SepLecomte T-
25255306Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.Nat Commun2014 Sep 25Pritchard CCdoi: 10.1038/ncomms5988.
19759184IVS10+12A>G polymorphism in hMSH2 gene associated with prognosis for patients with colorectal cancer.Ann Oncol2010 MarKim JGdoi: 10.1093/annonc/mdp338
12595050A636P is associated with early-onset colon cancer in Ashkenazi Jews.J Am Coll Surg2003 FebGuillem JG-
26544533Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.Pediatr Blood Cancer2016 MarBaris HNdoi: 10.1002/pbc.25818
25560462Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China.J Cancer Res Clin Oncol2015 AugLi Gdoi: 10.1007/s00432-014-1898-6
18181177Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene.Genes Chromosomes Cancer2008 AprPineda Mdoi: 10.1002/gcc.20536.
20438357Analysis of the hMSH2 gene variants in head and neck cancer.DNA Cell Biol2010 AugDemokan Sdoi: 10.1089/dna.2009.1013.
25640028[Lynch syndrome and risk of prostate cancer; review of the literature].Prog Urol2015 AprMaillard Fdoi: 10.1016/j.purol.2015.01.001
18543228[Comparison of clinical and genetic phenotypes between Chinese and Korean hereditary nonpolyposis colorectal cancer families].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2008 JunShen H-
18713544Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.Chin Med J (Engl)2008 Jul 20Shen XS-
24530475Down-regulation of MSH2 expression by an Hsp90 inhibitor enhances pemetrexed-induced cytotoxicity in human non-small-cell lung cancer cells.Exp Cell Res2014 Apr 1Tung CLdoi: 10.1016/j.yexcr.2014.02.002
17407090[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2007 AprLi TG-
21660619Clinical implications of mismatched repair gene promoter methylation in pancreatic cancer.Med Oncol2012 JunLi Mdoi: 10.1007/s12032-011-9968-y
21559014Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.Br J Cancer2011 Jun 28Win AKdoi: 10.1038/bjc.2011.172
12095971hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.Ann Surg Oncol2002 JulRossi BM-
19707776Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteins.Int J Colorectal Dis2010 JanMolaei Mdoi: 10.1007/s00384-009-0784-1
16341550Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.Hum Genet2006 MarPagenstecher C-
12792735Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.Oncol Rep2003 Jul-AugYamada K-
16500024New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.Cancer Lett2006 Dec 8Medina-Arana V-
23573243Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.PLoS One2013Hu Fdoi: 10.1371/journal.pone.0060233
15216397Microsatellite instability and hMLH1 and hMSH2 gene expression in Taiwanese hereditary nonpolyposis colorectal cancer.J Formos Med Assoc2004 MayWei SC-
22188021Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.Rural Remote Health2011Schofield L-
21156417A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family.Clin Transl Oncol2010 DecZ??rate Rdoi: 10.1007/s12094-010-0596-3.
19100506Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer.Cancer Genet Cytogenet2009 Jan 15Yoon Sdoi: 10.1016/j.cancergencyto.2008.09.001.
18561205A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.Hum Mutat2008 DecTournier Idoi: 10.1002/humu.20796.
18202787Overexpression of hMSH2 and hMLH1 protein in certain gastric cancers and their surrounding mucosae.Oncol Rep2008 FebLi M-
24317816Promoter methylation and immunohistochemical expression of hMLH1 and hMSH2 in sporadic colorectal cancer: a study from India.Tumour Biol2014 AprMalhotra Pdoi: 10.1007/s13277-013-1487-3
20931542[Association of IVS10+12G>A polymorphism in hMSH2 gene with colorectal cancer in Chinese].Zhonghua Yi Xue Yi Chuan Xue Za Zhi2010 OctZhou JNdoi: 10.3760/cma.j.issn.1003-9406.2010.05.023.
18629513Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote.Int J Colorectal Dis2008 NovUhrhammer Ndoi: 10.1007/s00384-008-0526-9
25490383Down-regulation of MSH2 expression by Hsp90 inhibition enhances cytotoxicity affected by tamoxifen in human lung cancer cells.Biochem Biophys Res Commun2015 Jan 2Ko JCdoi: 10.1016/j.bbrc.2014.11.116
16252083Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression.Breast Cancer Res Treat2005 DecPoplawski T-
15786548Clinicopathological and molecular genetic analysis of HNPCC in China.World J Gastroenterol2005 Mar 21Luo DC-
27069191Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.Anticancer Res2016 AprTanakaya K-
15375803Colorectal cancer prevention.Curr Probl Cancer2004 Sep-OctKauh J-
22581703Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.Hum Mutat2012 AugKantelinen Jdoi: 10.1002/humu.22119
15350299Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes.Cancer Genet Cytogenet2004 SepHuang RL-
21988782A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer.Colorectal Dis2012 MarZhang Rdoi: 10.1111/j.1463-1318.2011.02858.x.
20495877Magnetic resonance colonography for colorectal cancer screening in patients with Lynch syndrome gene mutation.Fam Cancer2010 DecLim EJdoi: 10.1007/s10689-010-9350-9.
11857745A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.Hum Mutat2002 MarWang Y-
18949393Oncoprotein Bcl-2 and microsatellite instability are associated with disease-free survival and treatment response in colorectal cancer.Oncol Rep2008 NovBendardaf R-
22635031Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.Int J Gynecol Cancer2012 JunGonz??lez Ldoi: 10.1097/IGC.0b013e31825104de.
16106253The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.Br J Cancer2005 Aug 22Lawes DA-
21513149[Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region].Yi Chuan2010 DecLi HC-
15200905[Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients].Zhonghua Yi Xue Za Zhi2004 May 2Liu SR-
22173703Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population.J Thorac Oncol2012 FebLi Tdoi: 10.1097/JTO.0b013e31823c487a.
23143558Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells.Exp Mol Med2012 Dec 31He YQdoi: 10.3858/emm.2012.44.12.079.
19418671Colorectal cancer in South Africa: a heritable cause suspected in many young black patients.S Afr Med J2009 FebCronj?? L-
21093899Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.Gynecol Oncol2011 FebLacey JV Jrdoi: 10.1016/j.ygyno.2010.10.016
17582678High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.Cancer Lett2007 Oct 8Mart??nez-Bouzas C-
24793746The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer.Med Oncol2014 JunWang Ydoi: 10.1007/s12032-014-0975-7
17987798Microsatellite instability (MSI) and MLH1 and MSH2 protein expression analysis in postmenopausal women with sporadic endometrial cancer.J Exp Clin Cancer Res2007 SepSobczuk A-
16874859Risk of colon cancer in hereditary non-polyposis colorectal cancer patients as predicted by fuzzy modeling: Influence of smoking.World J Gastroenterol2006 Jul 28Brand RM-
23329266Splice site mutations in mismatch repair genes and risk of cancer in the general population.Fam Cancer2013 SepThomsen Mdoi: 10.1007/s10689-013-9601-7.
21122410[Expression and significance of mismatch repair genes hMLH1 and hMSH2 in sporadic colorectal carcinoma].Zhonghua Zhong Liu Za Zhi2010 AugZheng JY-
15996210Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.Clin Genet2005 AugLee SC-
15063132Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations in a hereditary nonpolyposis colorectal cancer family.Mutat Res2004 Apr 14Miyaki M-
16684085Immunohistochemistry detects mismatch repair gene defects in colorectal cancer.Colorectal Dis2006 JunHameed F-
25134804Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women.Fam Cancer2015 MarSmolarz Bdoi: 10.1007/s10689-014-9746-z.
15042510MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.Am J Hum Genet2004 MayChan TL-
12684669Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer.Int J Oncol2003 MayChen Y-
25664706Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?Dis Colon Rectum2015 MarSamdani Tdoi: 10.1097/DCR.0000000000000262.
17569143Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.World J Gastroenterol2007 May 21Papp J-
12454801The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.Am J Hum Genet2002 DecFoulkes WD-
12808326Characterization of mutator pathway in younger-age-onset colorectal adenocarcinomas.J Korean Med Sci2003 JunRoh SA-
25561800Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer.World J Gastroenterol2014 Dec 28Yan ZHdoi: 10.3748/wjg.v20.i48.18338.
21766496Microsatellite instability and promoter hypermethylation of MLH1 and MSH2 in patients with sporadic colorectal cancer.J BUON2011 Apr-JunVlaykova T-
20181625Molecular profiling using tissue microarrays as a tool to identify predictive biomarkers in laryngeal cancer treated with radiotherapy.Cancer Genomics Proteomics2010 Jan-FebHolgersson G-
21528083SPARCL1, Shp2, MSH2, E-cadherin, p53, ADCY-2 and MAPK are prognosis-related in colorectal cancer.World J Gastroenterol2011 Apr 21Yu SJdoi: 10.3748/wjg.v17.i15.2028.
21128252Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects.Int J Cancer2011 Oct 1Duraturo Fdoi: 10.1002/ijc.25824
22806311miR-21 induces cell cycle at S phase and modulates cell proliferation by down-regulating hMSH2 in lung cancer.J Cancer Res Clin Oncol2012 OctZhong Z-
17228328Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.Eur J Hum Genet2007 MarBaert-Desurmont S-
26053027Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.PLoS One2015 Jun 8Kamiza ABdoi: 10.1371/journal.pone.0130018
18265677MSI is frequently recognized among gastric cancer patients with a family history of cancer.Hepatogastroenterology2007 DecKanemitsu K-
20872076Hereditary prostate cancer as a feature of Lynch syndrome.Fam Cancer2011 MarBauer CMdoi: 10.1007/s10689-010-9388-8.
16995940In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.BMC Genomics2006 Sep 22Lastella P-
19734583[Clinicopathologic characteristics, diagnosis, and treatment of 30 patients with hereditary nonpolyposis colorectal cancer].Zhong Nan Da Xue Xue Bao Yi Xue Ban2009 AugLiu H-
21732224Gene expression of the mismatch repair gene MSH2 in primary colorectal cancer.Tumour Biol2011 OctJensen LHdoi: 10.1007/s13277-011-0199-9
21926548Pancreatic cancer and a novel MSH2 germline alteration.Pancreas2011 OctLindor NMdoi: 10.1097/MPA.0b013e318220c217.
18547406The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.BMC Med Genet2008 Jun 11Christensen LLdoi: 10.1186/1471-2350-9-52.
15782118BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.Oncogene2005 Jun 2Domingo E-
21419447Upper urinary tract carcinoma in Lynch syndrome cases.J Urol2011 MayCrockett DGdoi: 10.1016/j.juro.2010.12.102
17011982Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.Cancer Genet Cytogenet2006 Oct 15Fan Y-
15062061[Clinical analysis and molecular genetic study of hereditary nonpolyposis colorectal cancer kindreds].Zhonghua Wai Ke Za Zhi2004 Feb 7Luo DC-
14499697Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.Cancer Genet Cytogenet2003 Oct 1Banno K-
15856462Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis.Int J Cancer2005 Oct 10Okada T-
20591884Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.J Med Genet2010 Julvan der Post RSdoi: 10.1136/jmg.2010.076992.
19697156Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.Fam Cancer2009Christensen LLdoi: 10.1007/s10689-009-9274-4
21419771High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.Gastroenterology2011 JunMukherjee Bdoi: 10.1053/j.gastro.2011.02.071
12697969Microsatellite instability is often observed in esophageal carcinoma patients with allelic loss in the FHIT/FRA3B locus.Oncology2003Mimori K-
21615986Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.BMB Rep2011 MayWei Wdoi: 10.5483/BMBRep.2011.44.5.317.
23301373Status of mismatch repair genes hMSH2 and hMSH6 in colorectal cancer in Saudi patients: an immunohistochemical analysis.East Mediterr Health J2012 NovAlkhalidi H-
20505253Loss of hMSH2 gene expression correlates with improved survival in patients with sporadic colorectal cancer.J Genet2010 AprLangner E-
12632492Studies on microsatellite instability in p16 gene and expression of hMSH2 mRNA in human gastric cancer tissues.World J Gastroenterol2003 MarZhang QX-
19950599[Expression and clinical significance of CDC6 and hMSH2 in cervical carcinoma].Sichuan Da Xue Xue Bao Yi Xue Ban2009 SepWang WX-
17566596Polymorphism in the hMSH2 gene (gISV12-6T > C) is a prognostic factor in non-small cell lung cancer.Lung Cancer2007 OctHsu HS-
18581137Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.Virchows Arch2008 JulM??ller Adoi: 10.1007/s00428-008-0637-2
27013479Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.BMC Urol2016 Mar 24Dominguez-Valentin Mdoi: 10.1186/s12894-016-0130-1.
18406877A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.Cancer Genet Cytogenet2008 Apr 15Park SJdoi: 10.1016/j.cancergencyto.2008.01.011.
21093954Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers.Lung Cancer2011 JunLo YLdoi: 10.1016/j.lungcan.2010.10.009
25107687MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.Eur J Surg Oncol2014 NovTanyi Mdoi: 10.1016/j.ejso.2014.07.032
18781619MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.Hum Mutat2008 NovBelvederesi Ldoi: 10.1002/humu.20875.
27468915First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.Fam Cancer2017 JanZiada-Bouchaar Hdoi: 10.1007/s10689-016-9917-1.
28411881Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I-II colon cancer patients.Biomed J2017 FebHuang SCdoi: 10.1016/j.bj.2017.01.004
28093084Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.Chin J Cancer2017 Jan 16Liu JYdoi: 10.1186/s40880-016-0175-2.
26975740MSH2 rs2303425 Polymorphism is Associated with Early-Onset Breast Cancer in Taiwan.Ann Surg Oncol2017 FebHsieh YCdoi: 10.1245/s10434-016-5168-5
28537674Correlations of MC4R and MSH2 expression with obesity in colon cancer patients.Eur Rev Med Pharmacol Sci2017 MayLiu YZ-
29025352Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.Scand J Gastroenterol2018 JanPonz de Leon Mdoi: 10.1080/00365521.2017.1386794
30486602The Tendency of Having MSH2 and MSH6 Microsatellite Instability among Clinicopathological Features in Patients with Colorectal CancerAsian Pac J Cancer Prev2018 Nov 29Arshita N-

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr247414288Missense_Mutationrs139891783S271F0.48
BLCAchr247478344SilentnovelG761G0.1
BLCAchr247445630Missense_MutationnovelM453I0.26
BLCAchr247412483Nonsense_Mutationrs63750488Q239*0.12
BLCAchr247482829SilentnovelP895P0.29
BLCAchr247476569Splice_RegionnovelL736L0.15
BLCAchr247414308Nonsense_MutationnovelE278*0.57
BLCAchr247466774Missense_MutationNAD543N0.22
BLCAchr247475081Missense_MutationNAV606F0.87
BLCAchr247408506Missense_MutationnovelR106T0.13
BLCAchr247471057Missense_MutationnovelS585F0.12
BLCAchr247476419SilentnovelV686V0.47
BLCAchr247414298Missense_Mutationrs781569442I274M0.22
BLCAchr247476552Missense_MutationnovelE731Q0.61
BLCAchr247478269Splice_Regionnovel0.17
BLCAchr247445644Missense_MutationnovelL458S0.44
BRCAchr247466677Missense_Mutationrs587782355Q510H0.32
BRCAchr247482776Splice_Regionnovel0.08
BRCAchr247475126Nonsense_Mutationrs63750508R621*0.59
BRCAchr247475241Missense_MutationNAK659T0.3
BRCAchr247429893Missense_MutationNAG410S0.11
BRCAchr247445622Missense_MutationNAQ451E0.12
BRCAchr247445586Missense_MutationnovelP439T0.29
BRCAchr247480810Missense_MutationNAG858A0.2
CESCchr247478507Nonsense_Mutationrs63749917Q816*0.19
CESCchr247410370Missense_MutationnovelQ215E0.1
CESCchr247410373Splice_SitenovelX215_splice0.09
CESCchr247476558Missense_Mutationrs772662439A733T0.1
CESCchr247403365Missense_Mutationrs372189599F58L0.3
COADchr247429757SilentNAE364E0.3
COADchr247466796Missense_MutationNAK550T0.39
COADchr247466762Missense_MutationnovelF539V0.05
COADchr247416405Missense_MutationnovelM351T0.14
COADchr247470996Frame_Shift_DelNAN566Ifs*240.23
COADchr247408438Missense_MutationnovelM83I0.33
COADchr2474830273'UTRnovel0.41
COADchr247466697Frame_Shift_DelNAQ518Vfs*100.61
COADchr247480817Silentrs752428475S860S0.45
COADchr247416394SilentnovelK347K0.11
COADchr247410229Missense_MutationNAS168P0.29
COADchr247478497Frame_Shift_InsNAM813Nfs*110.17
COADchr247482808SilentNAL888L0.39
COADchr247414389Missense_Mutationrs63751454A305T0.33
COADchr247476451Missense_Mutationrs63750398C697Y0.32
COADchr247478457Missense_MutationnovelN799S0.4
COADchr247478472Frame_Shift_DelnovelT806Kfs*40.2
COADchr247412458SilentNAA230A0.37
COADchr247429809Frame_Shift_DelnovelR382Ifs*260.23
COADchr247478309Silentrs527725593L750L0.06
COADchr247478276Missense_MutationNAA739T0.31
COADchr247410301Missense_MutationNAI192V0.27
COADchr247416354Missense_MutationnovelK334T0.21
COADchr247471041Nonsense_Mutationrs63751411E580*0.33
COADchr247408491Frame_Shift_InsnovelV102Ifs*750.05
COADchr247475170SilentnovelK635K0.21
COADchr247476492Nonsense_Mutationrs63750636R711*0.3
ESCAchr247475075Missense_MutationnovelA604T0.34
GBMchr247412479SilentnovelI237I0.06
GBMchr247429753Missense_MutationnovelV363G0.06
GBMchr247429852Missense_MutationnovelR396K0.23
GBMchr247480850Missense_MutationNAK871N0.54
GBMchr247478341SilentnovelF760F0.09
GBMchr247463082Missense_MutationnovelE480Q0.12
HNSCchr247408508Missense_MutationnovelA107T0.28
HNSCchr247445572Missense_Mutationrs768070717A434V0.15
HNSCchr247410212Missense_MutationnovelG162V0.23
HNSCchr247429809Missense_Mutationrs752373431R382C0.19
HNSCchr247414417Missense_MutationnovelQ314R0.3
HNSCchr247410152Missense_MutationnovelS142L0.13
KIRCchr247476480Missense_MutationNAC707R0.42
KIRCchr247478474Frame_Shift_InsnovelL805Hfs*40.08
KIRCchr247478475Frame_Shift_InsnovelT806Kfs*80.08
KIRCchr247480848Nonsense_MutationnovelK871delinsI*0.04
KIRCchr247480849Frame_Shift_InsnovelK871Nfs*240.04
KIRPchr247410361Frame_Shift_DelnovelK212Nfs*20.41
KIRPchr247466752Frame_Shift_InsnovelN536Kfs*20.52
KIRPchr247414336Missense_Mutationrs587782567G287A0.34
LGGchr247478436Missense_Mutationrs587782891N792S0.06
LGGchr247416352Frame_Shift_InsnovelT335Nfs*90.11
LIHCchr247480828In_Frame_DelnovelD864_C873delinsG0.14
LUADchr247475025Missense_MutationNAG587D0.13
LUADchr247416419Missense_MutationNAI356V0.35
LUADchr247482941Missense_MutationnovelT933P0.13
LUADchr247410291Missense_MutationnovelE188D0.22
LUADchr247410292Missense_Mutationrs63750821A189S0.21
LUADchr247410304Nonsense_Mutationrs63751326Q193*0.25
LUADchr247463059Missense_MutationnovelP472L0.04
LUADchr247476489Missense_MutationnovelA710P0.32
LUADchr247463029Splice_SitenovelX463_splice0.15
LUADchr247463153Splice_RegionNAL503L0.24
LUADchr247403335SilentNAE48E0.26
LUADchr247410334Nonsense_MutationnovelG203*0.19
LUADchr247482817SilentNAV891V0.2
LUADchr247463122Missense_Mutationrs376990143Q493L0.13
LUADchr247466706Missense_MutationnovelG520V0.17
LUADchr247463123Missense_MutationNAQ493H0.16
LUSCchr247445622Nonsense_Mutationrs786201066Q451*0.12
LUSCchr247482948Nonstop_Mutationnovel*935Lext*70.22
LUSCchr247480744Nonsense_MutationnovelF836_P837insSL*SN0.05
LUSCchr247412477Missense_MutationnovelI237F0.11
LUSCchr247475198Missense_Mutationrs267607982Q645E0.13
OVchr247429892Silentrs759098126Q409Q0.35
OVchr247478311Frame_Shift_DelNAG751Efs*120.6
OVchr247466801Frame_Shift_DelnovelT552Pfs*50.04
OVchr247478370Missense_MutationnovelI770N0.11
OVchr247475143Missense_MutationnovelE626D0.07
OVchr247429890Nonsense_MutationnovelQ409*0.59
OVchr247482894Missense_Mutationrs767318526A917V0.2
PAADchr247466657Splice_Siters267607964X504_splice0.14
PRADchr247412527Missense_MutationnovelM253I0.24
PRADchr247466755Frame_Shift_InsnovelN538Kfs*30.37
PRADchr247410204SilentnovelR159R0.09
READchr247416427Missense_MutationnovelE358D0.27
READchr247429882Missense_Mutationrs146567853R406Q0.25
READchr247466745Frame_Shift_DelNAR534Vfs*90.41
READchr247429899Missense_MutationNAN412H0.2
READchr247412417Missense_MutationnovelI217L0.41
READchr247429800Missense_Mutationrs764911657D379Y0.42
READchr247429882Missense_Mutationrs146567853R406Q0.55
READchr247482778Splice_SitenovelX879_splice0.58
READchr247416412Missense_MutationNAK353N0.31
SKCMchr2474830243'UTRnovel0.4
SKCMchr247482922SilentNAI926I0.31
SKCMchr247416365Missense_Mutationrs63751004G338R0.39
SKCMchr247445655Nonsense_MutationnovelQ462*0.25
SKCMchr247466743SilentNAV532V0.54
SKCMchr247476399Nonsense_Mutationrs63749932R680*0.26
SKCMchr247476527SilentNAV722V0.25
SKCMchr247463070Missense_MutationNAP476S0.08
SKCMchr247410282SilentnovelS185S0.3
SKCMchr247475263SilentNAI666I0.11
SKCMchr247429848Nonsense_Mutationrs63750302Q395*0.77
SKCMchr247478333Missense_MutationNAD758N0.53
SKCMchr247412467SilentNAS233S0.33
SKCMchr247475263SilentNAI666I0.48
STADchr247482815Missense_MutationnovelV891M0.13
STADchr247412449Frame_Shift_DelnovelA230Lfs*160.24
STADchr247429889Nonsense_MutationNAY408*0.21
STADchr247482930Missense_Mutationrs587779967R929Q0.46
STADchr247410254Missense_MutationnovelC176Y0.45
STADchr247412495Missense_Mutationrs138857091R243W0.59
STADchr247478275SilentNAS738S0.23
STADchr247412449Frame_Shift_DelnovelA230Lfs*160.2
STADchr247412449Frame_Shift_DelnovelA230Lfs*160.14
STADchr247429839Frame_Shift_DelnovelK392Rfs*200.24
STADchr247403248Frame_Shift_DelnovelF19Lfs*450.33
STADchr247403249Missense_MutationnovelV20L0.33
THCAchr247482859Frame_Shift_InsnovelI906Hfs*30.17
THCAchr247429813Missense_MutationNAR383L0.33
THCAchr247478474Frame_Shift_InsnovelL805Hfs*110.05
THYMchr247412449Frame_Shift_DelnovelA230Lfs*160.3
UCECchr247475153Nonsense_MutationnovelG630*0.33
UCECchr247480852Splice_SitenovelX872_splice0.13
UCECchr247471041Nonsense_Mutationrs63751411E580*0.35
UCECchr247410294SilentnovelA189A0.25
UCECchr247463091Nonsense_Mutationrs63749947E483*0.27
UCECchr247470999Missense_MutationNAN566H0.38
UCECchr247480850Missense_MutationNAK871N0.4
UCECchr247410242Missense_MutationnovelK172R0.44
UCECchr247463113Missense_MutationnovelK490R0.36
UCECchr247476373Missense_MutationnovelN671I0.34
UCECchr247482912Missense_MutationnovelV923A0.28
UCECchr247408417Missense_Mutationrs587782857Q76H0.48
UCECchr247412448Frame_Shift_InsnovelA230Sfs*20.36
UCECchr247471041Nonsense_Mutationrs63751411E580*0.44
UCECchr247471016Missense_MutationnovelE571D0.14
UCECchr247482848Nonsense_MutationnovelE902*0.33
UCECchr247480847Frame_Shift_DelnovelK871Rfs*210.58
UCECchr247408408Missense_MutationNAK73N0.26
UCECchr247478388Missense_MutationnovelA776V0.07
UCECchr247482893Missense_Mutationrs200581817A917T0.47
UCECchr247412449Frame_Shift_DelnovelA230Lfs*160.24
UCECchr247466809Splice_Siters267607969X554_splice0.54
UCECchr247416388Nonsense_Mutationrs63750396W345*0.11
UCECchr247408483Nonsense_MutationnovelY98*0.31
UCECchr247476533Silentrs370636719T724T0.28
UCECchr247410187Missense_Mutationrs759712763A154T0.19
UCECchr247416372Missense_MutationnovelR340I0.21
UCECchr247414333Missense_MutationnovelF286S0.37
UCECchr247476381Missense_Mutationrs63750234G674S0.38
UCECchr247463054Frame_Shift_DelnovelK471Nfs*110.3
UCECchr247466755Frame_Shift_InsnovelN538Kfs*30.27
UCECchr247408445Nonsense_MutationnovelE86*0.43
UCECchr247414308Nonsense_MutationnovelE278*0.33
UCECchr247414277SilentnovelV267V0.27
UCECchr247408428Frame_Shift_DelnovelS81Vfs*30.37
UCECchr247478480Frame_Shift_DelnovelT807Lfs*50.27
UCECchr247416332Missense_MutationnovelA327T0.42
UCECchr247410235Nonsense_Mutationrs63750843Q170*0.33
UCECchr247429943Splice_Siters267607953X426_splice0.29
UCECchr247463125Nonsense_MutationnovelS494*0.3
UCECchr247478488Missense_MutationnovelE809D0.26
UCECchr247429941Splice_SiteNAX426_splice0.2
UCECchr247480830Missense_MutationnovelI865V0.33
UCECchr247475130Missense_Mutationrs28929483P622L0.68
UCECchr247416300Missense_MutationnovelS316Y0.37
UCECchr247416417Missense_Mutationrs730881754R355I0.12
UCECchr247466748Missense_Mutationrs587778523R534H0.4
UCECchr247463136Missense_MutationNAS498R0.33
UCECchr247476463Missense_MutationnovelE701G0.29
UCECchr247410358Missense_Mutationrs587780689G211R0.05
UCECchr247408463Missense_MutationnovelL92I0.09
UCECchr247466748Frame_Shift_DelNAR534Lfs*90.27
UCECchr247410259Frame_Shift_DelnovelF178Sfs*360.85
UCECchr247466737SilentNAE530E0.22
UCECchr247412424Missense_MutationnovelR219I0.17
UCECchr247416407Missense_MutationnovelD352Y0.23
UCECchr247466717Missense_Mutationrs755818010R524C0.21
UCECchr247475122Nonsense_MutationnovelY619*0.91
UCECchr247414309Missense_MutationnovelE278G0.48
UCECchr247403263Missense_MutationnovelQ24H0.29
UCECchr247471008Nonsense_MutationnovelE569*0.07
UCSchr247480817Silentrs752428475S860S0.49

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CESCAMP0.21360.099937
KIRPDEL0.02780.08832
PAADDEL0.07070.2014
TGCTAMP0.24670.0050216

Survival Analysis
CancerP-value Q-value
THYM0.0024

Kaplan-Meier Survival Analysis

KIRC0.00011

Kaplan-Meier Survival Analysis

STAD0.0015

Kaplan-Meier Survival Analysis

SARC0.00011

Kaplan-Meier Survival Analysis

MESO0.022

Kaplan-Meier Survival Analysis

ACC0.00013

Kaplan-Meier Survival Analysis

SKCM0.004

Kaplan-Meier Survival Analysis

LUSC0.0095

Kaplan-Meier Survival Analysis

KIRP0.0011

Kaplan-Meier Survival Analysis

PAAD0.00034

Kaplan-Meier Survival Analysis

PCPG0.018

Kaplan-Meier Survival Analysis

READ0.0024

Kaplan-Meier Survival Analysis

KICH0.02

Kaplan-Meier Survival Analysis

UCEC0.0017

Kaplan-Meier Survival Analysis

LIHC0.0002

Kaplan-Meier Survival Analysis

LGG0.00059

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000095002 (Gene tree)
Gene ID
4436
Gene Symbol
MSH2
Alias
HNPCC|HNPCC1|COCA1
Full Name
mutS homolog 2
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
260,178 bases
Position
chr2:47,402,969-47,663,146
Accession
7325
RBP type
non-canonical RBP
Summary
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]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
29431736Capturing the interactome of newly transcribed RNARICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
22614019The Grainyhead transcription factor Grhl3/Get1 suppresses miR-21 expression and tumorigenesis in skin: modulation of the miR-21 target MSH2 by RNA-binding protein DND1.Oncogene2013 Mar 21Bhandari Adoi: 10.1038/onc.2012.168
16226712Proteomic analysis of human O6-methylguanine-DNA methyltransferase by affinity chromatography and tandem mass spectrometry.Biochem Biophys Res Commun2005 Dec 2Niture SK-
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000645339MSH2-2083113-ENSP00000496441918 (aa)-A0A2R8YFH0
ENST00000543555MSH2-2053024-ENSP00000442697868 (aa)-P43246
ENST00000454849MSH2-203560-ENSP00000411482140 (aa)-C9J809
ENST00000644092MSH2-2065343-ENSP00000496351558 (aa)-A0A2R8Y7S8
ENST00000645506MSH2-2097893XM_011532867ENSP00000495455924 (aa)XP_011531169A0A2R8Y6P0
ENST00000644900MSH2-2071663-ENSP00000495641168 (aa)-A0A2R8Y713
ENST00000233146MSH2-2013307-ENSP00000233146934 (aa)-P43246
ENST00000646415MSH2-2104523-ENSP00000495543938 (aa)-A0A2R8YG02
ENST00000467323MSH2-204313--- (aa)--
ENST00000406134MSH2-2023628XM_005264332ENSP00000384199921 (aa)XP_005264389E9PHA6
Gene Model
Click here to download ENSG00000095002's gene model file
Pathways
Pathway IDPathway NameSource
hsa01524Platinum drug resistanceKEGG
hsa03430Mismatch repairKEGG
hsa05200Pathways in cancerKEGG
hsa05210Colorectal cancerKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000095002Stroke7.2991377E-005-
ENSG00000095002Platelet Function Tests1.5046600E-005-
ENSG00000095002Platelet Function Tests4.3524848E-006-
ENSG00000095002Platelet Function Tests4.4207540E-006-
ENSG00000095002Platelet Function Tests4.0450658E-006-
ENSG00000095002Platelet Function Tests6.0888667E-007-
ENSG00000095002Bronchodilator Agents5E-626634245
ENSG00000095002Lung Volume Measurements5E-626634245
ENSG00000095002Alzheimer Disease8E-726830138
ENSG00000095002Age of Onset8E-726830138
ENSG00000095002Alpha Rhythm7E-625387704
ENSG00000095002Brain Waves7E-625387704
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000095002rs147620864247459393GPost bronchodilator FEV1/FVC ratio26634245unit increase0.315GO_0097366|EFO_0004713
ENSG00000095002rs186552003247443115AAlzheimer disease and age of onset26830138unit increase4.943EFO_0000249|EFO_0004847
ENSG00000095002rs2969775247658337?Psychosis in Alzheimer's disease22005930[NR]1.4705882EFO_0000249|EFO_0005940
ENSG00000095002rs10514805247452839?Electroencephalogram traits25387704[0.098-0.246] unit increase0.172EFO_0006870|EFO_0004357
ENSG00000095002rs6544997247617366?Vitiligo19890347EFO_0004208
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000095002's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000095002MSH29993.128ENSMUSG00000024151Msh29992.803Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000287magnesium ion binding16403449.IDAFunction
GO:0000400four-way junction DNA binding21873635.IBAFunction
GO:0000400four-way junction DNA binding12034830.IDAFunction
GO:0000784nuclear chromosome, telomeric region19135898.HDAComponent
GO:0001701in utero embryonic development-IEAProcess
GO:0003677DNA binding7923193.IDAFunction
GO:0003682chromatin binding26300262.IDAFunction
GO:0003684damaged DNA binding21873635.IBAFunction
GO:0003690double-stranded DNA binding11809883.IDAFunction
GO:0003697single-stranded DNA binding11809883.IDAFunction
GO:0005515protein binding8942985.9207118.9774676.10856833.12414623.14657349.15014079.16025128.18675275.19377479.19596235.22157815.22179786.25241761.26221039.26496610.IPIFunction
GO:0005515protein binding16403449.IPIFunction
GO:0005524ATP binding21873635.IBAFunction
GO:0005524ATP binding15105434.IDAFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus26300262.IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0006119oxidative phosphorylation-IEAProcess
GO:0006281DNA repair8942985.IDAProcess
GO:0006298mismatch repair21873635.IBAProcess
GO:0006298mismatch repair7923193.11555625.IDAProcess
GO:0006298mismatch repair23603115.IGIProcess
GO:0006298mismatch repair-TASProcess
GO:0006301postreplication repair21873635.IBAProcess
GO:0006301postreplication repair7923193.IDAProcess
GO:0006302double-strand break repair21873635.IBAProcess
GO:0007050cell cycle arrest-IEAProcess
GO:0007281germ cell development-IEAProcess
GO:0008022protein C-terminus binding14706347.IPIFunction
GO:0008094DNA-dependent ATPase activity21873635.IBAFunction
GO:0008340determination of adult lifespan-IEAProcess
GO:0008584male gonad development-ISSProcess
GO:0010165response to X-ray21873635.IBAProcess
GO:0010165response to X-ray-ISSProcess
GO:0010224response to UV-B21873635.IBAProcess
GO:0010224response to UV-B-ISSProcess
GO:0016020membrane19946888.HDAComponent
GO:0016446somatic hypermutation of immunoglobulin genes-IEAProcess
GO:0016447somatic recombination of immunoglobulin gene segments-ISSProcess
GO:0016887ATPase activity16403449.IDAFunction
GO:0019237centromeric DNA binding-IEAFunction
GO:0019724B cell mediated immunity-ISSProcess
GO:0019899enzyme binding9788596.10856833.11427529.11429708.12414623.14676842.17715146.26300262.IPIFunction
GO:0019901protein kinase binding14657349.IPIFunction
GO:0030183B cell differentiation-ISSProcess
GO:0030983mismatched DNA binding8942985.11756455.11801590.IDAFunction
GO:0031573intra-S DNA damage checkpoint21873635.IBAProcess
GO:0032137guanine/thymine mispair binding21873635.IBAFunction
GO:0032137guanine/thymine mispair binding8942985.11809883.IDAFunction
GO:0032137guanine/thymine mispair binding16713580.IMPFunction
GO:0032139dinucleotide insertion or deletion binding8942985.IDAFunction
GO:0032142single guanine insertion binding8942985.IDAFunction
GO:0032143single thymine insertion binding21873635.IBAFunction
GO:0032143single thymine insertion binding8942985.IDAFunction
GO:0032181dinucleotide repeat insertion binding8942985.IDAFunction
GO:0032300mismatch repair complex21873635.IBAComponent
GO:0032301MutSalpha complex21873635.IBAComponent
GO:0032301MutSalpha complex8942985.23622243.IDAComponent
GO:0032302MutSbeta complex21873635.IBAComponent
GO:0032302MutSbeta complex8942985.IDAComponent
GO:0032357oxidized purine DNA binding11756455.11801590.IDAFunction
GO:0032405MutLalpha complex binding16403449.IDAFunction
GO:0042771intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator21873635.IBAProcess
GO:0042803protein homodimerization activity8942985.IDAFunction
GO:0043524negative regulation of neuron apoptotic process-ISSProcess
GO:0043531ADP binding15105434.IDAFunction
GO:0043570maintenance of DNA repeat elements21873635.IBAProcess
GO:0043570maintenance of DNA repeat elements16388310.IMPProcess
GO:0045190isotype switching-ISSProcess
GO:0045910negative regulation of DNA recombination21873635.IBAProcess
GO:0045910negative regulation of DNA recombination17715146.IDAProcess
GO:0045910negative regulation of DNA recombination-ISSProcess
GO:0048298positive regulation of isotype switching to IgA isotypes-IEAProcess
GO:0048304positive regulation of isotype switching to IgG isotypes-IEAProcess
GO:0051096positive regulation of helicase activity17715146.IDAProcess
GO:0071168protein localization to chromatin26300262.IMPProcess
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