Details for: MSH2
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 144.5239
Cell Significance Index: -22.4800 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 102.2696
Cell Significance Index: -25.9400 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 67.1202
Cell Significance Index: -27.6500 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 60.1836
Cell Significance Index: -24.4500 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 25.7556
Cell Significance Index: -24.5900 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 23.6018
Cell Significance Index: -29.1000 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 10.7343
Cell Significance Index: -32.9700 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 10.2469
Cell Significance Index: -27.4500 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 8.2245
Cell Significance Index: -18.0000 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 7.6127
Cell Significance Index: -30.0400 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 5.0954
Cell Significance Index: 969.6900 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 2.7071
Cell Significance Index: 151.9100 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 2.2402
Cell Significance Index: 221.6100 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 2.1421
Cell Significance Index: 94.7500 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 2.0239
Cell Significance Index: 76.6400 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.8207
Cell Significance Index: 365.2300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.7532
Cell Significance Index: 347.9200 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 1.5691
Cell Significance Index: 18.7100 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.5136
Cell Significance Index: 542.9000 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 1.4542
Cell Significance Index: 91.6600 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 1.3217
Cell Significance Index: 22.6500 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 1.0965
Cell Significance Index: 13.6000 - Cell Name: cortical interneuron (CL0008031)
Fold Change: 1.0170
Cell Significance Index: 24.3900 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.9721
Cell Significance Index: 58.3600 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9391
Cell Significance Index: 152.7300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.9328
Cell Significance Index: 101.4600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.9122
Cell Significance Index: 56.0700 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.7330
Cell Significance Index: 16.0500 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.7168
Cell Significance Index: 24.9100 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.6396
Cell Significance Index: 43.0100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.5822
Cell Significance Index: 67.8500 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.5217
Cell Significance Index: 471.0600 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.4663
Cell Significance Index: 54.9900 - Cell Name: pro-T cell (CL0000827)
Fold Change: 0.4261
Cell Significance Index: 10.8900 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3457
Cell Significance Index: 9.9600 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.3439
Cell Significance Index: 237.8800 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.2868
Cell Significance Index: 156.6100 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.2810
Cell Significance Index: 8.0200 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.2594
Cell Significance Index: 46.7600 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.2238
Cell Significance Index: 98.9500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2237
Cell Significance Index: 15.4700 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.2053
Cell Significance Index: 25.2400 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.1343
Cell Significance Index: 2.9100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.1331
Cell Significance Index: 8.5900 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.1174
Cell Significance Index: 5.3200 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.1136
Cell Significance Index: 5.9000 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.1031
Cell Significance Index: 194.1600 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.1011
Cell Significance Index: 5.2700 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0892
Cell Significance Index: 1.9000 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.0833
Cell Significance Index: 2.1900 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0660
Cell Significance Index: 9.0600 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0453
Cell Significance Index: 69.8000 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0437
Cell Significance Index: 80.6100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0387
Cell Significance Index: 1.3600 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0333
Cell Significance Index: 21.1300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0278
Cell Significance Index: 2.1300 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0052
Cell Significance Index: 7.1300 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0043
Cell Significance Index: -1.9600 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0208
Cell Significance Index: -15.2400 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0268
Cell Significance Index: -1.2500 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0282
Cell Significance Index: -4.1000 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0375
Cell Significance Index: -28.3800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0392
Cell Significance Index: -29.0100 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0541
Cell Significance Index: -30.5000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0542
Cell Significance Index: -33.8300 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0788
Cell Significance Index: -1.9700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0826
Cell Significance Index: -23.7700 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0984
Cell Significance Index: -2.7500 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.1163
Cell Significance Index: -3.1100 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1177
Cell Significance Index: -6.1800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.1200
Cell Significance Index: -20.4900 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.1250
Cell Significance Index: -16.0200 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1424
Cell Significance Index: -14.5500 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.1428
Cell Significance Index: -10.1000 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1493
Cell Significance Index: -19.2900 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1614
Cell Significance Index: -34.0000 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1721
Cell Significance Index: -8.0900 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.2008
Cell Significance Index: -3.3600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2180
Cell Significance Index: -24.9800 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.2186
Cell Significance Index: -3.1300 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.2342
Cell Significance Index: -4.6300 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2584
Cell Significance Index: -26.9100 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.2771
Cell Significance Index: -3.7800 - Cell Name: peg cell (CL4033014)
Fold Change: -0.2861
Cell Significance Index: -6.6100 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2902
Cell Significance Index: -21.6300 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.3201
Cell Significance Index: -25.3500 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.3291
Cell Significance Index: -10.7800 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.3319
Cell Significance Index: -20.3500 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3451
Cell Significance Index: -10.9900 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.3619
Cell Significance Index: -7.6800 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.3769
Cell Significance Index: -12.0700 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.4086
Cell Significance Index: -8.2000 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.4420
Cell Significance Index: -9.5500 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: -0.4614
Cell Significance Index: -6.1600 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.4884
Cell Significance Index: -13.0700 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.5156
Cell Significance Index: -7.7700 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.5456
Cell Significance Index: -16.0700 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.5486
Cell Significance Index: -14.7000 - Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: -0.5645
Cell Significance Index: -5.8800 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5686
Cell Significance Index: -19.9200
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 3225707855
Symbol: MSH2_HUMAN
Name: DNA mismatch repair protein Msh2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8252616
Title: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
PubMed ID: 8252616
PubMed ID: 8156592
Title:
PubMed ID: 8156592
PubMed ID: 8261515
Title: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
PubMed ID: 8261515
PubMed ID: 7713503
Title: Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
PubMed ID: 7713503
PubMed ID: 7726159
Title: Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.
PubMed ID: 7726159
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 7923193
Title: Purified human MSH2 protein binds to DNA containing mismatched nucleotides.
PubMed ID: 7923193
PubMed ID: 8769132
Title: A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides.
PubMed ID: 8769132
PubMed ID: 8942985
Title: hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.
PubMed ID: 8942985
PubMed ID: 9788596
Title: Human exonuclease I interacts with the mismatch repair protein hMSH2.
PubMed ID: 9788596
PubMed ID: 9822680
Title: Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism.
PubMed ID: 9822680
PubMed ID: 9822679
Title: DNA-dependent activation of the hMutSalpha ATPase.
PubMed ID: 9822679
PubMed ID: 9564049
Title: hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha.
PubMed ID: 9564049
PubMed ID: 9889267
Title: Functional analysis of human MutSalpha and MutSbeta complexes in yeast.
PubMed ID: 9889267
DOI: 10.1093/nar/27.3.736
PubMed ID: 10078208
Title: hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA.
PubMed ID: 10078208
PubMed ID: 10783165
Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
PubMed ID: 10783165
PubMed ID: 10856833
Title: Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis.
PubMed ID: 10856833
PubMed ID: 10660545
Title: The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch.
PubMed ID: 10660545
PubMed ID: 11306449
Title: Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer.
PubMed ID: 11306449
PubMed ID: 11427529
Title: The interaction of DNA mismatch repair proteins with human exonuclease I.
PubMed ID: 11427529
PubMed ID: 11429708
Title: HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.
PubMed ID: 11429708
PubMed ID: 12414623
Title: Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
PubMed ID: 12414623
PubMed ID: 12549480
Title: Early onset brain tumor and lymphoma in MSH2-deficient children.
PubMed ID: 12549480
DOI: 10.1086/345297
PubMed ID: 14657349
Title: MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.
PubMed ID: 14657349
PubMed ID: 14676842
Title: Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA.
PubMed ID: 14676842
PubMed ID: 15064730
Title: The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase.
PubMed ID: 15064730
PubMed ID: 15808853
Title: hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation.
PubMed ID: 15808853
PubMed ID: 16372347
Title: A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years.
PubMed ID: 16372347
DOI: 10.1002/ajmg.a.31070
PubMed ID: 17525332
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
PubMed ID: 17525332
PubMed ID: 17611581
Title: The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells.
PubMed ID: 17611581
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 26300262
Title: MCM9 Is Required for Mammalian DNA Mismatch Repair.
PubMed ID: 26300262
PubMed ID: 28112733
Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.
PubMed ID: 28112733
DOI: 10.1038/nsmb.3366
PubMed ID: 21120944
Title: Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
PubMed ID: 21120944
DOI: 10.1002/humu.21409
PubMed ID: 8036718
Title: Colon cancer and DNA repair: have mismatches met their match?
PubMed ID: 8036718
PubMed ID: 9259192
Title: Molecular basis of HNPCC: mutations of MMR genes.
PubMed ID: 9259192
DOI: 10.1002/(sici)1098-1004(1997)10:2<89::aid-humu1>3.0.co;2-h
PubMed ID: 17080293
Title: The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer.
PubMed ID: 17080293
PubMed ID: 18675275
Title: The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS.
PubMed ID: 18675275
PubMed ID: 19596235
Title: Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.
PubMed ID: 19596235
PubMed ID: 21642682
Title: Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
PubMed ID: 21642682
PubMed ID: 17531815
Title: Structure of the human MutSalpha DNA lesion recognition complex.
PubMed ID: 17531815
PubMed ID: 7874129
Title: Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.
PubMed ID: 7874129
PubMed ID: 8690195
Title: Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer.
PubMed ID: 8690195
PubMed ID: 8566964
Title: CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
PubMed ID: 8566964
DOI: 10.1007/bf02265276
PubMed ID: 8872463
Title: Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PubMed ID: 8872463
DOI: 10.1093/hmg/5.9.1245
PubMed ID: 8797773
Title: Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
PubMed ID: 8797773
PubMed ID: 8700523
Title: Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer.
PubMed ID: 8700523
PubMed ID: 9311737
Title: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
PubMed ID: 9311737
DOI: 10.1086/514847
PubMed ID: 9240418
Title: Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers.
PubMed ID: 9240418
PubMed ID: 9419403
Title: Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
PubMed ID: 9419403
PubMed ID: 8993976
Title: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
PubMed ID: 8993976
DOI: 10.1002/(sici)1098-2264(199701)18:1<8::aid-gcc2>3.0.co;2-7
PubMed ID: 9087566
Title: MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
PubMed ID: 9087566
DOI: 10.1002/(sici)1098-2264(199704)18:4<269::aid-gcc4>3.3.co;2-9
PubMed ID: 9048925
Title: Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
PubMed ID: 9048925
PubMed ID: 9298827
Title: Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
PubMed ID: 9298827
DOI: 10.1002/(sici)1098-1004(1997)10:3<241::aid-humu12>3.0.co;2-#
PubMed ID: 9718327
Title: Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
PubMed ID: 9718327
DOI: 10.1086/301996
PubMed ID: 9777949
Title: Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.
PubMed ID: 9777949
PubMed ID: 9559627
Title: Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
PubMed ID: 9559627
DOI: 10.1007/bf02235756
PubMed ID: 10023327
Title: MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility.
PubMed ID: 10023327
PubMed ID: 9621522
Title: Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer 'HNPCC' and in a patient with six primary cancers.
PubMed ID: 9621522
PubMed ID: 10375096
Title: Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
PubMed ID: 10375096
DOI: 10.1002/(sici)1097-0142(19990615)85:12<2512::aid-cncr4>3.0.co;2-g
PubMed ID: 10469597
Title: Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
PubMed ID: 10469597
PubMed ID: 10573010
Title: Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
PubMed ID: 10573010
PubMed ID: 10386556
Title: Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer.
PubMed ID: 10386556
PubMed ID: 10528862
Title: A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.
PubMed ID: 10528862
PubMed ID: 10777691
Title: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
PubMed ID: 10777691
PubMed ID: 10713887
Title: Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
PubMed ID: 10713887
PubMed ID: 10612836
Title: Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families.
PubMed ID: 10612836
DOI: 10.1002/(sici)1098-1004(200001)15:1<116::aid-humu24>3.0.co;2-q
PubMed ID: 10829038
Title: Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
PubMed ID: 10829038
PubMed ID: 12132870
Title: hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
PubMed ID: 12132870
PubMed ID: 11726306
Title: Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
PubMed ID: 11726306
PubMed ID: 11555625
Title: Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
PubMed ID: 11555625
PubMed ID: 12373605
Title: Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PubMed ID: 12373605
PubMed ID: 11920458
Title: Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma.
PubMed ID: 11920458
PubMed ID: 12124176
Title: HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
PubMed ID: 12124176
PubMed ID: 11809679
Title: A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots.
PubMed ID: 11809679
PubMed ID: 11839723
Title: Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
PubMed ID: 11839723
DOI: 10.1136/gut.50.3.405
PubMed ID: 12112654
Title: Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.
PubMed ID: 12112654
DOI: 10.1002/humu.10083
PubMed ID: 12200596
Title: Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.
PubMed ID: 12200596
PubMed ID: 11870161
Title: Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
PubMed ID: 11870161
PubMed ID: 12362047
Title: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PubMed ID: 12362047
PubMed ID: 12658575
Title: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
PubMed ID: 12658575
DOI: 10.1086/373963
PubMed ID: 14504054
Title: Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
PubMed ID: 14504054
PubMed ID: 12655564
Title: Genetic analysis of familial colorectal cancer in Israeli Arabs.
PubMed ID: 12655564
DOI: 10.1002/humu.9123
PubMed ID: 12655568
Title: Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
PubMed ID: 12655568
DOI: 10.1002/humu.9127
PubMed ID: 14635101
Title: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
PubMed ID: 14635101
DOI: 10.1002/humu.10291
PubMed ID: 12792735
Title: Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
PubMed ID: 12792735
PubMed ID: 15046096
Title: Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
PubMed ID: 15046096
PubMed ID: 15300854
Title: RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
PubMed ID: 15300854
DOI: 10.1002/humu.9267
PubMed ID: 15365995
Title: Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
PubMed ID: 15365995
DOI: 10.1002/humu.9277
PubMed ID: 15613555
Title: Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
PubMed ID: 15613555
DOI: 10.1093/jjco/hyh121
PubMed ID: 15342696
Title: BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
PubMed ID: 15342696
PubMed ID: 15896463
Title: A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.
PubMed ID: 15896463
PubMed ID: 15996210
Title: Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
PubMed ID: 15996210
PubMed ID: 15870828
Title: Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
PubMed ID: 15870828
Sequence Information:
- Length: 934
- Mass: 104743
- Checksum: 664A058C78242E05
- Sequence:
MAVQPKETLQ LESAAEVGFV RFFQGMPEKP TTTVRLFDRG DFYTAHGEDA LLAAREVFKT QGVIKYMGPA GAKNLQSVVL SKMNFESFVK DLLLVRQYRV EVYKNRAGNK ASKENDWYLA YKASPGNLSQ FEDILFGNND MSASIGVVGV KMSAVDGQRQ VGVGYVDSIQ RKLGLCEFPD NDQFSNLEAL LIQIGPKECV LPGGETAGDM GKLRQIIQRG GILITERKKA DFSTKDIYQD LNRLLKGKKG EQMNSAVLPE MENQVAVSSL SAVIKFLELL SDDSNFGQFE LTTFDFSQYM KLDIAAVRAL NLFQGSVEDT TGSQSLAALL NKCKTPQGQR LVNQWIKQPL MDKNRIEERL NLVEAFVEDA ELRQTLQEDL LRRFPDLNRL AKKFQRQAAN LQDCYRLYQG INQLPNVIQA LEKHEGKHQK LLLAVFVTPL TDLRSDFSKF QEMIETTLDM DQVENHEFLV KPSFDPNLSE LREIMNDLEK KMQSTLISAA RDLGLDPGKQ IKLDSSAQFG YYFRVTCKEE KVLRNNKNFS TVDIQKNGVK FTNSKLTSLN EEYTKNKTEY EEAQDAIVKE IVNISSGYVE PMQTLNDVLA QLDAVVSFAH VSNGAPVPYV RPAILEKGQG RIILKASRHA CVEVQDEIAF IPNDVYFEKD KQMFHIITGP NMGGKSTYIR QTGVIVLMAQ IGCFVPCESA EVSIVDCILA RVGAGDSQLK GVSTFMAEML ETASILRSAT KDSLIIIDEL GRGTSTYDGF GLAWAISEYI ATKIGAFCMF ATHFHELTAL ANQIPTVNNL HVTALTTEET LTMLYQVKKG VCDQSFGIHV AELANFPKHV IECAKQKALE LEEFQYIGES QGYDIMEPAA KKCYLEREQG EKIIQEFLSK VKQMPFTEMS EENITIKLKQ LKAEVIAKNN SFVNEIISRI KVTT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.