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Aliases for MSH6 Gene

Aliases for MSH6 Gene

  • MutS Homolog 6 2 3 5
  • G/T Mismatch-Binding Protein 3 4
  • MutS-Alpha 160 KDa Subunit 3 4
  • MutS Protein Homolog 6 3 4
  • GTMBP 3 4
  • GTBP 3 4
  • P160 3 4
  • DNA Mismatch Repair Protein Msh6 3
  • MutS (E. Coli) Homolog 6 2
  • MutS Homolog 6 (E. Coli) 2
  • Sperm-Associated Protein 3
  • HNPCC5 3
  • HMSH6 4
  • HSAP 3

External Ids for MSH6 Gene

Previous HGNC Symbols for MSH6 Gene

  • GTBP

Previous GeneCards Identifiers for MSH6 Gene

  • GC02P048026
  • GC02P048179
  • GC02P047984
  • GC02P047921
  • GC02P048010
  • GC02P047746
  • GC02P047924

Summaries for MSH6 Gene

Entrez Gene Summary for MSH6 Gene

  • This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

CIViC summary for MSH6 Gene

GeneCards Summary for MSH6 Gene

MSH6 (MutS Homolog 6) is a Protein Coding gene. Diseases associated with MSH6 include Colorectal Cancer, Hereditary Nonpolyposis, Type 5 and Endometrial Cancer. Among its related pathways are Mismatch repair and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity.

UniProtKB/Swiss-Prot for MSH6 Gene

  • Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated Lys-36 of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.

Gene Wiki entry for MSH6 Gene

Additional gene information for MSH6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH6 Gene

Genomics for MSH6 Gene

GeneHancer (GH) Regulatory Elements for MSH6 Gene

Promoters and enhancers for MSH6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I047781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 579 +87.9 87878 3.1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B E2F8 MSH6 ENSG00000228925 ENSG00000225187 FBXO11 ENSG00000283502 GC02M047790
GH02I047694 Enhancer 0.9 ENCODE dbSUPER 550.8 +1.8 1848 5 TEAD4 TAL1 BATF ETS1 TCF12 GATA3 POLR2A CBFA2T2 ATF7 ZSCAN29 MSH6 LOC440864 HCG2040054 FOXN2 ENSG00000224443 LOC100289315
GH02I047791 Promoter 0.5 EPDnew 550.2 +95.5 95540 0.1 GC02M047790 MSH6 ENSG00000283502 FBXO11
GH02I047268 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 96.5 -423.3 -423325 6.7 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF207 ZNF143 MSH6 ENSG00000228925 FBXO11 ENSG00000233845 ENSG00000225187 SOCS5 MSH2 CALM2 RPL36AP15 RPL18AP6
GH02I047169 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 58.4 -521.7 -521678 8.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 CALM2 MSH6 SOCS5 ENSG00000225187 ENSG00000228925 RPL18AP6 FBXO11 LOC101927043 MSH2 ATP6V1E2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MSH6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSH6 gene promoter:

Genomic Locations for MSH6 Gene

Genomic Locations for MSH6 Gene
chr2:47,695,530-47,810,101
(GRCh38/hg38)
Size:
114,572 bases
Orientation:
Plus strand
chr2:47,922,669-48,037,240
(GRCh37/hg19)

Genomic View for MSH6 Gene

Genes around MSH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSH6 Gene

Proteins for MSH6 Gene

  • Protein details for MSH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52701-MSH6_HUMAN
    Recommended name:
    DNA mismatch repair protein Msh6
    Protein Accession:
    P52701
    Secondary Accessions:
    • B4DF41
    • B4E3I4
    • F5H2F9
    • O43706
    • O43917
    • Q8TCX4
    • Q9BTB5

    Protein attributes for MSH6 Gene

    Size:
    1360 amino acids
    Molecular mass:
    152786 Da
    Quaternary structure:
    • Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR. Interacts with herpes simplex virus 1 protein UL12 (PubMed:21957315).

    Three dimensional structures from OCA and Proteopedia for MSH6 Gene

    Alternative splice isoforms for MSH6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSH6 Gene

Post-translational modifications for MSH6 Gene

  • Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.
  • The N-terminus is blocked.
  • Ubiquitination at isoforms=3, 4, 2334, Lys519, Lys610, isoforms=3, 4, 2632, Lys728, Lys771, Lys824, Lys1296, Lys1315, isoforms=3, 41325, isoforms=3, 41352, and Lys1358
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MSH6 Gene

Domains & Families for MSH6 Gene

Gene Families for MSH6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P52701

UniProtKB/Swiss-Prot:

MSH6_HUMAN :
  • The PWWP domain specifically recognizes and binds trimethylated Lys-36 of histone H3 (H3K36me3).
  • Belongs to the DNA mismatch repair MutS family.
Domain:
  • The PWWP domain specifically recognizes and binds trimethylated Lys-36 of histone H3 (H3K36me3).
Family:
  • Belongs to the DNA mismatch repair MutS family.
genes like me logo Genes that share domains with MSH6: view

Function for MSH6 Gene

Molecular function for MSH6 Gene

GENATLAS Biochemistry:
must S (E coli) homolog 6,GT binding protein,complexing with MSH2 in mismatch repair (MUTS alpha heterodimer),functioning as a molecular switch between ADP and ATP bound forms,selective for repair or GT mispair and single deplaced bases,with two alternatively spliced isoforms,GTBPN,mutated in gastric carcinomas in association with microsatellite mutator phenotype (MMP),deleted in sporadic colorectal cancer (early onset)
UniProtKB/Swiss-Prot Function:
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated Lys-36 of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.

Phenotypes From GWAS Catalog for MSH6 Gene

Gene Ontology (GO) - Molecular Function for MSH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 contributes_to magnesium ion binding IDA 16403449
GO:0000400 contributes_to four-way junction DNA binding IDA 12034830
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003684 damaged DNA binding IEA --
genes like me logo Genes that share ontologies with MSH6: view
genes like me logo Genes that share phenotypes with MSH6: view

Human Phenotype Ontology for MSH6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSH6 Gene

MGI Knock Outs for MSH6:

miRNA for MSH6 Gene

miRTarBase miRNAs that target MSH6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSH6 Gene

Localization for MSH6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSH6 Gene

Nucleus. Chromosome. Note=Associates with H3K36me3 via its PWWP domain.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSH6 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MSH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005694 chromosome IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with MSH6: view

Pathways & Interactions for MSH6 Gene

genes like me logo Genes that share pathways with MSH6: view

SIGNOR curated interactions for MSH6 Gene

Activates:

Gene Ontology (GO) - Biological Process for MSH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000710 meiotic mismatch repair ISS --
GO:0006281 DNA repair IDA 8942985
GO:0006298 mismatch repair TAS,IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0008340 determination of adult lifespan ISS --
genes like me logo Genes that share ontologies with MSH6: view

Drugs & Compounds for MSH6 Gene

(6) Drugs for MSH6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MSH6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSH6: view

Transcripts for MSH6 Gene

Unigene Clusters for MSH6 Gene

MutS homolog 6 (E. coli):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSH6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - - -
SP8: - - -
SP9: - - - - - -

Relevant External Links for MSH6 Gene

GeneLoc Exon Structure for
MSH6
ECgene alternative splicing isoforms for
MSH6

Expression for MSH6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSH6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MSH6 Gene

This gene is overexpressed in Fetal ovary (14.8), Testis (9.2), and Lymph node (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MSH6 Gene



Protein tissue co-expression partners for MSH6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MSH6 Gene:

MSH6

SOURCE GeneReport for Unigene cluster for MSH6 Gene:

Hs.445052

Evidence on tissue expression from TISSUES for MSH6 Gene

  • Nervous system(4.7)
  • Intestine(3.4)
  • Lymph node(2.3)
  • Eye(2.1)
  • Stomach(2.1)
  • Blood(2)
  • Lung(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSH6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • larynx
  • meninges
  • neck
  • skull
  • vocal cord
Thorax:
  • breast
  • esophagus
  • trachea
Abdomen:
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • arm
  • upper limb
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MSH6: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MSH6 Gene

Orthologs for MSH6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSH6 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia MSH6 33 34
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia MSH6 33 34
  • 90.55 (n)
mouse
(Mus musculus)
Mammalia Msh6 33 16 34
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia LOC100360342 33
  • 84.37 (n)
oppossum
(Monodelphis domestica)
Mammalia MSH6 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSH6 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSH6 33 34
  • 67.95 (n)
lizard
(Anolis carolinensis)
Reptilia MSH6 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msh6 33
  • 66.42 (n)
Str.3583 33
zebrafish
(Danio rerio)
Actinopterygii msh6 33 34
  • 60.96 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1092 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003190 33
  • 50.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Msh6 33 34
  • 50.23 (n)
CG7003 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea msh-6 35 33 34
  • 49.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH6 33 34 36
  • 46.48 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR116W 33
  • 45.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17732g 33
  • 45.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH6 33
  • 49.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1020 34
  • 48 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes msh6 33
  • 46.59 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08135 33
  • 45.9 (n)
Species where no ortholog for MSH6 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSH6 Gene

ENSEMBL:
Gene Tree for MSH6 (if available)
TreeFam:
Gene Tree for MSH6 (if available)

Paralogs for MSH6 Gene

genes like me logo Genes that share paralogs with MSH6: view

No data available for Paralogs for MSH6 Gene

Variants for MSH6 Gene

Sequence variations from dbSNP and Humsavar for MSH6 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1001812170 likely-benign, Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome 47,804,981(+) T/A/C coding_sequence_variant, synonymous_variant
rs1011670864 likely-benign, Hereditary nonpolyposis colon cancer 47,783,344(+) C/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1021631442 uncertain-significance, Hereditary cancer-predisposing syndrome 47,806,279(+) G/A coding_sequence_variant, missense_variant
rs1026907245 likely-benign, Hereditary nonpolyposis colon cancer 47,803,643(+) T/A coding_sequence_variant, synonymous_variant
rs1030492598 likely-benign, Hereditary cancer-predisposing syndrome 47,783,413(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MSH6 Gene

Variant ID Type Subtype PubMed ID
nsv979002 CNV duplication 23825009

Variation tolerance for MSH6 Gene

Residual Variation Intolerance Score: 1.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.06; 80.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSH6 Gene

Human Gene Mutation Database (HGMD)
MSH6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSH6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH6 Gene

Disorders for MSH6 Gene

MalaCards: The human disease database

(34) MalaCards diseases for MSH6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MSH6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSH6_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:10413423, ECO:0000269 PubMed:10537275, ECO:0000269 PubMed:10699937, ECO:0000269 PubMed:11153917, ECO:0000269 PubMed:11470537, ECO:0000269 PubMed:11709755, ECO:0000269 PubMed:11807791, ECO:0000269 PubMed:12522549, ECO:0000269 PubMed:14520694, ECO:0000269 PubMed:14961575, ECO:0000269 PubMed:15483016, ECO:0000269 PubMed:22102614}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000269 PubMed:11153917, ECO:0000269 PubMed:14961575}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:10480359, ECO:0000269 PubMed:10521294, ECO:0000269 PubMed:11586295, ECO:0000269 PubMed:12658575, ECO:0000269 PubMed:14974087, ECO:0000269 PubMed:15365995, ECO:0000269 PubMed:21120944, ECO:0000269 PubMed:22102614, ECO:0000269 PubMed:9354786}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:17557300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MSH6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MSH6: view

No data available for Genatlas for MSH6 Gene

Publications for MSH6 Gene

  1. 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. (PMID: 14961575) Cederquist K … Grönberg H (International journal of cancer 2004) 3 4 22 44 58
  2. MSH6 germline mutations are rare in colorectal cancer families. (PMID: 14520694) Peterlongo P … Ellis NA (International journal of cancer 2003) 3 4 22 44 58
  3. Mutations of GTBP in genetically unstable cells. (PMID: 7604266) Papadopoulos N … Kinzler KW (Science (New York, N.Y.) 1995) 2 3 4 22 58
  4. Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers. (PMID: 19492230) Zhao YS … Zhu S (Journal of toxicology and environmental health. Part A 2009) 3 22 44 58
  5. Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. (PMID: 19526325) Berginc G … Glavac D (Familial cancer 2009) 3 22 44 58

Products for MSH6 Gene

Sources for MSH6 Gene