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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 Mismatch Repair Cancer Syndrome. Among its related pathways are DNA Damage and DNA damage_Role of Brca1 and Brca2 in DNA repair. 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

Regulatory Elements for MSH6 Gene

Enhancers for MSH6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H047268 1.9 FANTOM5 Ensembl ENCODE dbSUPER 87 -423.3 -423325 6 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 FOS MSH6 ENSG00000228925 FBXO11 SOCS5 ENSG00000233845 ENSG00000225187 CALM2 RPL18AP6 MSH2 STPG4
GH02H047169 1.7 Ensembl ENCODE dbSUPER 69.2 -521.7 -521679 8 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 SSRP1 MSH6 SOCS5 FBXO11 ENSG00000225187 ENSG00000228925 RPL18AP6 ENSG00000253515 LOC101805491 LOC100506142 CALM2
GH02H047322 1.5 Ensembl ENCODE dbSUPER 33.8 -372.2 -372174 1 HDGF PKNOX1 ATF1 ARNT ZFP64 ARID4B SIN3A BRCA1 ZNF2 TCF12 MSH6 TTC7A ENSG00000228925 RPL18AP6 STPG4 SOCS5 FBXO11 LOC100506142 ENSG00000225187 LOC101927043
GH02H047297 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.5 -395.9 -395873 3 PKNOX1 ATF1 ZNF766 ELK1 ATF7 RUNX3 CAVIN1 ZNF592 MEF2D NBN MSH6 SOCS5 LOC101927043 ENSG00000228925 CALM2 EPCAM MIR559 FBXO11 KCNK12 PIR58315
GH02H046870 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.4 -820.6 -820636 9 HDGF FOXA2 PKNOX1 SIN3A YBX1 ZNF2 YY1 ZNF766 ZNF207 FOS TTC7A SOCS5 MSH6 MCFD2 STPG4 MSH2 GC02M046879 ENSG00000226548
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSH6 on UCSC Golden Path with GeneCards custom track

Genomic Location for MSH6 Gene

Chromosome:
2
Start:
47,695,530 bp from pter
End:
47,810,101 bp from pter
Size:
114,572 bases
Orientation:
Plus strand

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 posLast=334334, Lys519, Lys610, posLast=632632, posLast=728728, posLast=771771, posLast=824824, Lys1296, posLast=13151315, posLast=13251325, Lys1352, 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:

Animal Model Products

CRISPR Products

miRNA for MSH6 Gene

miRTarBase miRNAs that target MSH6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSH6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSH6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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)
  • 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
Organs:
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

Primer Products

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 Sequence Context AA Info Type
rs201735525 Uncertain significance, Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350] 47,799,813(+) CTAAA(A/C/G/T)AGTTC reference, synonymous-codon, missense
rs2020908 Uncertain significance, Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350] 47,799,169(+) CTACA(C/G)TCTAT reference, missense
rs2020912 Pathogenic, Colorectal cancer (CRC) [MIM:114500], Endometrial cancer (ENDMC) [MIM:608089], Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350] 47,800,616(+) AGAAG(C/G/T)TGCTG reference, missense
rs267608026 Uncertain significance, Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350] 47,783,306(+) CCTCG(G/T)CCAGG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs267608054 Uncertain significance, Hereditary non-polyposis colorectal cancer 5 (HNPCC5) [MIM:614350] 47,801,059(+) GGAGG(C/G/T)ATGTA reference, missense

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)

Relevant External Links for MSH6 Gene

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

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

Disorders for MSH6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 5
  • hereditary non-polyposis colorectal cancer 5
mismatch repair cancer syndrome
  • turcot syndrome
endometrial cancer
  • endometrial cancer, familial
lynch syndrome
  • coca 1
muir-torre syndrome
  • keratoacanthoma
- 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.

Relevant External Links for MSH6

Genetic Association Database (GAD)
MSH6
Human Genome Epidemiology (HuGE) Navigator
MSH6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSH6
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 45 60
  2. MSH6 germline mutations are rare in colorectal cancer families. (PMID: 14520694) Peterlongo P … Ellis NA (International journal of cancer 2003) 3 4 22 45 60
  3. Mutations of GTBP in genetically unstable cells. (PMID: 7604266) Papadopoulos N … Kinzler KW (Science (New York, N.Y.) 1995) 2 3 4 22 60
  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 45 60
  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 45 60

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