Details for: MSH6

Gene ID: 2956

Symbol: MSH6

Ensembl ID: ENSG00000116062

Description: mutS homolog 6

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 2.02
    Marker Score: 7808
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.83
    Marker Score: 1946
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.83
    Marker Score: 18431
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.76
    Marker Score: 4791
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.71
    Marker Score: 17290
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.68
    Marker Score: 2421
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.44
    Marker Score: 9336
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.42
    Marker Score: 1534
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.4
    Marker Score: 4162
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.4
    Marker Score: 1753.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.34
    Marker Score: 4961
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.33
    Marker Score: 7898.5
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.23
    Marker Score: 831
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.13
    Marker Score: 3061
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.08
    Marker Score: 809
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.07
    Marker Score: 1079
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.07
    Marker Score: 726
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.05
    Marker Score: 505
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.03
    Marker Score: 1106
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.03
    Marker Score: 16076
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.03
    Marker Score: 2143
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.02
    Marker Score: 560
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.01
    Marker Score: 1709
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71701
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47924
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.96
    Marker Score: 903
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.96
    Marker Score: 1024
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2394
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.93
    Marker Score: 588
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 476
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.92
    Marker Score: 227
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.9
    Marker Score: 7766
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.9
    Marker Score: 955
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2698
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.9
    Marker Score: 3676
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.89
    Marker Score: 8372
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.88
    Marker Score: 54420
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.87
    Marker Score: 13038
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.87
    Marker Score: 3414
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.87
    Marker Score: 250
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.86
    Marker Score: 630
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1750
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.86
    Marker Score: 11548
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.85
    Marker Score: 2004
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.85
    Marker Score: 16863
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.85
    Marker Score: 273
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.84
    Marker Score: 32074
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.84
    Marker Score: 507
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.84
    Marker Score: 31101
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.84
    Marker Score: 3256
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4766
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.82
    Marker Score: 1272
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.82
    Marker Score: 341
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.82
    Marker Score: 14549
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.82
    Marker Score: 7748
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.81
    Marker Score: 3360
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.81
    Marker Score: 10677
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.79
    Marker Score: 530
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 315
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.78
    Marker Score: 1840
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.78
    Marker Score: 5954
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.77
    Marker Score: 4621
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.77
    Marker Score: 1113
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.77
    Marker Score: 795
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.75
    Marker Score: 371
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.75
    Marker Score: 241
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.75
    Marker Score: 3056
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.75
    Marker Score: 261
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.74
    Marker Score: 221
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.73
    Marker Score: 194
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.73
    Marker Score: 964
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.72
    Marker Score: 1649
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.72
    Marker Score: 251
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 371
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 458
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.71
    Marker Score: 1095
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2973
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.7
    Marker Score: 341
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.69
    Marker Score: 262
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.69
    Marker Score: 835
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.69
    Marker Score: 238
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.69
    Marker Score: 504
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.68
    Marker Score: 2353
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.68
    Marker Score: 1007
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.68
    Marker Score: 7030
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.68
    Marker Score: 2828
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.68
    Marker Score: 334
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.67
    Marker Score: 394
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 611
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.67
    Marker Score: 209
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.66
    Marker Score: 5827
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.66
    Marker Score: 267
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.66
    Marker Score: 191

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Other Information

**Key characteristics:** * MSH6 is a protein of approximately 160 kDa. * It is found in a variety of cell types, including neural progenitor cells, granulosa cells, ovarian surface epithelial cells, and Leydig cells. * MSH6 is a key component of the DNA repair machinery and is essential for the maintenance of genomic integrity. **Pathways and functions:** * MSH6 is involved in the repair of DNA damage that can occur during DNA replication. * It is also involved in the repair of errors that occur during DNA transcription. * MSH6 is a key component of the MMR pathway, which is responsible for repairing DNA damage that can lead to mutations. * It is also involved in the repair of DNA damage that can occur during cell division. **Clinical significance:** * Mutations in the MSH6 gene have been linked to a number of human diseases, including breast cancer, ovarian cancer, and infertility. * These mutations can lead to the accumulation of damaged DNA in cells, which can then lead to mutations that can cause cancer. * The development of therapies that target MSH6 is an active area of research.

Genular Protein ID: 3867910333

Symbol: MSH6_HUMAN

Name: MutS-alpha 160 kDa subunit

UniProtKB Accession Codes:

P52701 B4DF41 B4E3I4 F5H2F9 O43706 O43917 Q8TCX4 Q9BTB5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CPTAC 1 CPTC 1 CTD 1 CarbonylDB 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 14 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 5 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 8 PIR 1 PIRSF 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 3 RefSeq 4 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8942985

Title: hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.

PubMed ID: 8942985

DOI: 10.1073/pnas.93.24.13629

PubMed ID: 9455487

Title: Alternative splicing of GTBP in normal human tissues.

PubMed ID: 9455487

DOI: 10.1093/dnares/4.5.359

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 7604265

Title: GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells.

PubMed ID: 7604265

DOI: 10.1126/science.7604265

PubMed ID: 8838326

Title: Molecular cloning of the N-terminus of GTBP.

PubMed ID: 8838326

DOI: 10.1006/geno.1996.0067

PubMed ID: 7604264

Title: Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.

PubMed ID: 7604264

DOI: 10.1126/science.7604264

PubMed ID: 9822680

Title: Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism.

PubMed ID: 9822680

DOI: 10.1074/jbc.273.48.32055

PubMed ID: 9822679

Title: DNA-dependent activation of the hMutSalpha ATPase.

PubMed ID: 9822679

DOI: 10.1074/jbc.273.48.32049

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

DOI: 10.1093/emboj/17.9.2677

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

DOI: 10.1016/s1097-2765(00)80316-0

PubMed ID: 10660545

Title: The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch.

PubMed ID: 10660545

DOI: 10.1074/jbc.275.6.3922

PubMed ID: 15064730

Title: The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase.

PubMed ID: 15064730

DOI: 10.1038/sj.onc.1207462

PubMed ID: 15808853

Title: hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation.

PubMed ID: 15808853

DOI: 10.1016/j.jmb.2005.02.001

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: 9354786

Title: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

PubMed ID: 9354786

DOI: 10.1038/ng1197-271

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17557300

Title: Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PubMed ID: 17557300

DOI: 10.1002/humu.20569

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 21957315

Title: DNA mismatch repair proteins are required for efficient herpes simplex virus 1 replication.

PubMed ID: 21957315

DOI: 10.1128/jvi.05487-11

PubMed ID: 23622243

Title: The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha.

PubMed ID: 23622243

DOI: 10.1016/j.cell.2013.03.025

PubMed ID: 26300262

Title: MCM9 Is Required for Mammalian DNA Mismatch Repair.

PubMed ID: 26300262

DOI: 10.1016/j.molcel.2015.07.010

PubMed ID: 17531815

Title: Structure of the human MutSalpha DNA lesion recognition complex.

PubMed ID: 17531815

DOI: 10.1016/j.molcel.2007.04.018

PubMed ID: 7604266

Title: Mutations of GTBP in genetically unstable cells.

PubMed ID: 7604266

DOI: 10.1126/science.7604266

PubMed ID: 10521294

Title: Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

PubMed ID: 10521294

DOI: 10.1086/302612

PubMed ID: 10537275

Title: Germ-line msh6 mutations in colorectal cancer families.

PubMed ID: 10537275

PubMed ID: 10480359

Title: Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PubMed ID: 10480359

DOI: 10.1007/s004399900064

PubMed ID: 10413423

Title: Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PubMed ID: 10413423

DOI: 10.1093/jnci/91.14.1221

PubMed ID: 11153917

Title: Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

PubMed ID: 11153917

DOI: 10.1007/s004390000417

PubMed ID: 10699937

Title: Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

PubMed ID: 10699937

DOI: 10.1002/(sici)1097-0215(20000301)85:5<606::aid-ijc2>3.0.co;2-b

PubMed ID: 11470537

Title: Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

PubMed ID: 11470537

DOI: 10.1016/s0378-1119(01)00517-0

PubMed ID: 11586295

Title: A role for MLH3 in hereditary nonpolyposis colorectal cancer.

PubMed ID: 11586295

DOI: 10.1038/ng1001-137

PubMed ID: 11709755

Title: Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

PubMed ID: 11709755

DOI: 10.1086/337944

PubMed ID: 11807791

Title: Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PubMed ID: 11807791

DOI: 10.1002/ijc.10097

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: 12522549

Title: Two mismatch repair gene mutations found in a colon cancer patient - which one is pathogenic?

PubMed ID: 12522549

DOI: 10.1007/s00439-002-0866-4

PubMed ID: 14520694

Title: MSH6 germline mutations are rare in colorectal cancer families.

PubMed ID: 14520694

DOI: 10.1002/ijc.11415

PubMed ID: 15354210

Title: MSH6 missense mutations are often associated with no or low cancer susceptibility.

PubMed ID: 15354210

DOI: 10.1038/sj.bjc.6602129

PubMed ID: 14974087

Title: Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PubMed ID: 14974087

DOI: 10.1002/humu.9217

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: 14961575

Title: Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

PubMed ID: 14961575

DOI: 10.1002/ijc.11718

PubMed ID: 15483016

Title: Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium.

PubMed ID: 15483016

DOI: 10.1200/jco.2004.02.033

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 18033691

Title: Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

PubMed ID: 18033691

DOI: 10.1002/humu.20635

PubMed ID: 22102614

Title: A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PubMed ID: 22102614

DOI: 10.1002/humu.22000

PubMed ID: 22581703

Title: Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

PubMed ID: 22581703

DOI: 10.1002/humu.22119

Sequence Information:

  • Length: 1360
  • Mass: 152786
  • Checksum: 4A4AA9F8ECB8FFE9
  • Sequence:
    • MSRQSTLYSF FPKSPALSDA NKASARASRE GGRAAAAPGA SPSPGGDAAW SEAGPGPRPL 
ARSASPPKAK NLNGGLRRSV APAAPTSCDF SPGDLVWAKM EGYPWWPCLV YNHPFDGTFI 
REKGKSVRVH VQFFDDSPTR GWVSKRLLKP YTGSKSKEAQ KGGHFYSAKP EILRAMQRAD 
EALNKDKIKR LELAVCDEPS EPEEEEEMEV GTTYVTDKSE EDNEIESEEE VQPKTQGSRR 
SSRQIKKRRV ISDSESDIGG SDVEFKPDTK EEGSSDEISS GVGDSESEGL NSPVKVARKR 
KRMVTGNGSL KRKSSRKETP SATKQATSIS SETKNTLRAF SAPQNSESQA HVSGGGDDSS 
RPTVWYHETL EWLKEEKRRD EHRRRPDHPD FDASTLYVPE DFLNSCTPGM RKWWQIKSQN 
FDLVICYKVG KFYELYHMDA LIGVSELGLV FMKGNWAHSG FPEIAFGRYS DSLVQKGYKV 
ARVEQTETPE MMEARCRKMA HISKYDRVVR REICRIITKG TQTYSVLEGD PSENYSKYLL 
SLKEKEEDSS GHTRAYGVCF VDTSLGKFFI GQFSDDRHCS RFRTLVAHYP PVQVLFEKGN 
LSKETKTILK SSLSCSLQEG LIPGSQFWDA SKTLRTLLEE EYFREKLSDG IGVMLPQVLK 
GMTSESDSIG LTPGEKSELA LSALGGCVFY LKKCLIDQEL LSMANFEEYI PLDSDTVSTT 
RSGAIFTKAY QRMVLDAVTL NNLEIFLNGT NGSTEGTLLE RVDTCHTPFG KRLLKQWLCA 
PLCNHYAIND RLDAIEDLMV VPDKISEVVE LLKKLPDLER LLSKIHNVGS PLKSQNHPDS 
RAIMYEETTY SKKKIIDFLS ALEGFKVMCK IIGIMEEVAD GFKSKILKQV ISLQTKNPEG 
RFPDLTVELN RWDTAFDHEK ARKTGLITPK AGFDSDYDQA LADIRENEQS LLEYLEKQRN 
RIGCRTIVYW GIGRNRYQLE IPENFTTRNL PEEYELKSTK KGCKRYWTKT IEKKLANLIN 
AEERRDVSLK DCMRRLFYNF DKNYKDWQSA VECIAVLDVL LCLANYSRGG DGPMCRPVIL 
LPEDTPPFLE LKGSRHPCIT KTFFGDDFIP NDILIGCEEE EQENGKAYCV LVTGPNMGGK 
STLMRQAGLL AVMAQMGCYV PAEVCRLTPI DRVFTRLGAS DRIMSGESTF FVELSETASI 
LMHATAHSLV LVDELGRGTA TFDGTAIANA VVKELAETIK CRTLFSTHYH SLVEDYSQNV 
AVRLGHMACM VENECEDPSQ ETITFLYKFI KGACPKSYGF NAARLANLPE EVIQKGHRKA 
REFEKMNQSL RLFREVCLAS ERSTVDAEAV HKLLTLIKEL

Genular Protein ID: 1829786354

Symbol: Q3SWU9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q3SWU9

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1

Citations:

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

Sequence Information:

  • Length: 252
  • Mass: 27771
  • Checksum: 4BE6FA3C1CD95282
  • Sequence:
    • MSRQSTLYSF FPKSPALSDA NKASARASRE GGRAAAAPGA SPSPGGDAAW SEAGPGPRPL 
ARSASPPKAK NLNGGLRRSV APAAPTSCDF SPGDLVWAKM EGYPWWPCLV YNHPFDGTFI 
REKGKSVRVH VQFFDDSPTR GWVSKRLLKP YTGSKSKEAQ KGGHFYSAKP EILRAMQRAD 
EALNKDKIKR LELAVCDEPS EPEEEEEMEV GTTYVTDKSE EDNEIESEEE VQPKTQGSRR 
SSRQKKKKKK KK

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. For the full schema, download it here.