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Aliases for MSH3 Gene

Aliases for MSH3 Gene

  • MutS Homolog 3 2 3 5
  • Divergent Upstream Protein 2 3 4
  • Mismatch Repair Protein 1 2 3 4
  • HMSH3 3 4
  • MRP1 3 4
  • DUP 3 4
  • DNA Mismatch Repair Protein Msh3 3
  • MutS (E. Coli) Homolog 3 2
  • MutS Homolog 3 (E. Coli) 2
  • FAP4 3
  • DUC1 4
  • DUG 4

External Ids for MSH3 Gene

Previous GeneCards Identifiers for MSH3 Gene

  • GC05P078772
  • GC05P080189
  • GC05P079989
  • GC05P080034
  • GC05P079986
  • GC05P075159

Summaries for MSH3 Gene

Entrez Gene Summary for MSH3 Gene

  • The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]

GeneCards Summary for MSH3 Gene

MSH3 (MutS Homolog 3) is a Protein Coding gene. Diseases associated with MSH3 include Endometrial Cancer and Superficial Urinary Bladder Cancer. Among its related pathways are Mismatch repair and Platinum drug resistance. GO annotations related to this gene include protein homodimerization activity and single-stranded DNA binding.

UniProtKB/Swiss-Prot for MSH3 Gene

  • Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. 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.

Gene Wiki entry for MSH3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH3 Gene

Genomics for MSH3 Gene

Regulatory Elements for MSH3 Gene

Enhancers for MSH3 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
GH05G080654 1.1 ENCODE 30.7 +0.1 91 3.8 HDGF ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 ZNF263 SP3 DHFR MSH3
GH05G080667 0.8 ENCODE 33.2 +13.8 13801 1.2 TBP PKNOX1 MAX ZNF644 DNMT3B RAD21 RARA YY1 POLR2A HNF4G DHFR MSH3 ENSG00000248967
GH05G080623 0.7 Ensembl 37.9 -30.6 -30648 0.8 ELF3 TFAP4 ZNF362 ZNF146 FOXA2 FEZF1 ZNF384 THRB FOXA1 OSR2 MSH3 LINC01337 ENSG00000249655
GH05G080754 1.1 Ensembl ENCODE 17.1 +102.0 101998 3.7 PKNOX1 FEZF1 EBF1 ARID3A POLR2A CBX5 EED NR2F6 ETV6 RELB DHFR MSH3 ENSG00000248967 GC05P080808
GH05G081005 1.1 FANTOM5 Ensembl ENCODE 5.6 +352.3 352268 2.2 MAFF ZNF316 MAFG EMSY ATF2 MAFK RASGRF2 RASGRF2-AS1 MSH3 ENSG00000251001 ENSG00000249772
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSH3 on UCSC Golden Path with GeneCards custom track

Promoters for MSH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000183189 -48 2001 HDGF ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 FOS ZNF263

Genomic Location for MSH3 Gene

Chromosome:
5
Start:
80,654,648 bp from pter
End:
80,876,815 bp from pter
Size:
222,168 bases
Orientation:
Plus strand

Genomic View for MSH3 Gene

Genes around MSH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSH3 Gene

Proteins for MSH3 Gene

  • Protein details for MSH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20585-MSH3_HUMAN
    Recommended name:
    DNA mismatch repair protein Msh3
    Protein Accession:
    P20585
    Secondary Accessions:
    • A1L480
    • A1L482
    • A6NMM6
    • Q6PJT5
    • Q86UQ6
    • Q92867

    Protein attributes for MSH3 Gene

    Size:
    1137 amino acids
    Molecular mass:
    127412 Da
    Quaternary structure:
    • Heterodimer consisting of MSH2-MSH3 (MutS beta). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1.
    SequenceCaution:
    • Sequence=AAH11817.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MSH3 Gene

neXtProt entry for MSH3 Gene

Post-translational modifications for MSH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSH3 Gene

Domains & Families for MSH3 Gene

Gene Families for MSH3 Gene

Suggested Antigen Peptide Sequences for MSH3 Gene

Graphical View of Domain Structure for InterPro Entry

P20585

UniProtKB/Swiss-Prot:

MSH3_HUMAN :
  • Belongs to the DNA mismatch repair MutS family. MSH3 subfamily.
Family:
  • Belongs to the DNA mismatch repair MutS family. MSH3 subfamily.
genes like me logo Genes that share domains with MSH3: view

Function for MSH3 Gene

Molecular function for MSH3 Gene

GENATLAS Biochemistry:
yeast mutator gene homolog (bacteria mutS),complexing with MSH2 in mismatch repair,with reduced expression in hematological malignancies and in non-small cell lung cancer,overlapping dehydrofolate reductase and transcribed in opposite orientation (see TSG5B),deleted in sporadic colorectal cancer in breast cancer
UniProtKB/Swiss-Prot Function:
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. 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.

Gene Ontology (GO) - Molecular Function for MSH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 contributes_to single-stranded DNA binding IDA 11809883
GO:0005515 protein binding IPI 8942985
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IPI 11427529
genes like me logo Genes that share ontologies with MSH3: view
genes like me logo Genes that share phenotypes with MSH3: view

Human Phenotype Ontology for MSH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSH3 Gene

MGI Knock Outs for MSH3:

Animal Model Products

CRISPR Products

miRNA for MSH3 Gene

miRTarBase miRNAs that target MSH3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSH3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSH3 Gene

Localization for MSH3 Gene

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 MSH3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MSH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
GO:0032302 MutSbeta complex IDA 8942985
genes like me logo Genes that share ontologies with MSH3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MSH3 Gene

Pathways & Interactions for MSH3 Gene

genes like me logo Genes that share pathways with MSH3: view

Pathways by source for MSH3 Gene

Gene Ontology (GO) - Biological Process for MSH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IDA 8942985
GO:0006298 mismatch repair TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0043570 maintenance of DNA repeat elements IMP 16388310
GO:0045910 negative regulation of DNA recombination IDA 17715146
genes like me logo Genes that share ontologies with MSH3: view

No data available for SIGNOR curated interactions for MSH3 Gene

Drugs & Compounds for MSH3 Gene

(3) Drugs for MSH3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MSH3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSH3: view

Transcripts for MSH3 Gene

mRNA/cDNA for MSH3 Gene

Unigene Clusters for MSH3 Gene

MutS homolog 3 (E. coli):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MSH3

Alternative Splicing Database (ASD) splice patterns (SP) for MSH3 Gene

No ASD Table

Relevant External Links for MSH3 Gene

GeneLoc Exon Structure for
MSH3
ECgene alternative splicing isoforms for
MSH3

Expression for MSH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MSH3 Gene

This gene is overexpressed in Tlymphocyte (12.9), Peripheral blood mononuclear cells (12.5), and Monocytes (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MSH3 Gene



Protein tissue co-expression partners for MSH3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MSH3 Gene:

MSH3

SOURCE GeneReport for Unigene cluster for MSH3 Gene:

Hs.280987

Evidence on tissue expression from TISSUES for MSH3 Gene

  • Muscle(4.1)
  • Intestine(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSH3 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • uterus
genes like me logo Genes that share expression patterns with MSH3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MSH3 Gene

Orthologs for MSH3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSH3 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia MSH3 34 35
  • 90.36 (n)
cow
(Bos Taurus)
Mammalia MSH3 34 35
  • 88.6 (n)
mouse
(Mus musculus)
Mammalia Msh3 34 16 35
  • 82.78 (n)
rat
(Rattus norvegicus)
Mammalia Msh3 34
  • 82.62 (n)
oppossum
(Monodelphis domestica)
Mammalia MSH3 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves MSH3 34 35
  • 72.21 (n)
lizard
(Anolis carolinensis)
Reptilia MSH3 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msh3 34
  • 66.5 (n)
zebrafish
(Danio rerio)
Actinopterygii msh3 34 35 35
  • 61.69 (n)
Dr.28362 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH3 35 37
  • 31 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH3 34
  • 50.18 (n)
rice
(Oryza sativa)
Liliopsida Os04g0682900 34
  • 46.26 (n)
Os.27360 34
barley
(Hordeum vulgare)
Liliopsida Hv.1594 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes msh3 34
  • 49.53 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08115 34
  • 47.35 (n)
Species where no ortholog for MSH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MSH3 Gene

ENSEMBL:
Gene Tree for MSH3 (if available)
TreeFam:
Gene Tree for MSH3 (if available)

Paralogs for MSH3 Gene

(1) SIMAP similar genes for MSH3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MSH3: view

No data available for Paralogs for MSH3 Gene

Variants for MSH3 Gene

Sequence variations from dbSNP and Humsavar for MSH3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587776701 Pathogenic 80,675,103(+) AAAAA(-/A)GGGCA reference, frameshift-variant
rs866260675 Pathogenic 80,778,719(+) TTCTA(A/G)CACAA splice-acceptor-variant
rs886037878 Pathogenic 80,864,811(+) GCTTT(A/C)GGTGA splice-acceptor-variant
rs886037879 Pathogenic 80,813,688(+) GGCTC(-/C)TATGT reference, frameshift-variant
rs201745474 Uncertain significance 80,654,054(+) AATTC(A/C)TTCCT intron-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MSH3 Gene

Variant ID Type Subtype PubMed ID
dgv1025e199 CNV deletion 23128226
dgv3106n106 CNV deletion 24896259
dgv945e201 CNV deletion 23290073
esv1008736 CNV deletion 20482838
esv1113629 CNV deletion 17803354
esv1765430 CNV insertion 17803354
esv2360560 CNV deletion 18987734
esv2452635 CNV deletion 19546169
esv2673567 CNV deletion 23128226
esv2730370 CNV deletion 23290073
esv2730371 CNV deletion 23290073
esv2730372 CNV deletion 23290073
esv2730374 CNV deletion 23290073
esv2730375 CNV deletion 23290073
esv2730377 CNV deletion 23290073
esv2730379 CNV deletion 23290073
esv3303257 CNV mobile element insertion 20981092
esv3398114 CNV insertion 20981092
esv3410004 CNV insertion 20981092
esv3566166 CNV deletion 23714750
esv3605581 CNV gain 21293372
esv3605585 CNV loss 21293372
esv3605586 CNV loss 21293372
esv4350 CNV loss 18987735
esv7059 CNV loss 19470904
nsv10710 CNV gain 18304495
nsv10711 CNV gain 18304495
nsv1073898 CNV deletion 25765185
nsv1112422 CNV deletion 24896259
nsv1125251 CNV insertion 24896259
nsv1142439 CNV tandem duplication 24896259
nsv1151160 CNV deletion 26484159
nsv1153165 CNV deletion 26484159
nsv329246 CNV deletion 16902084
nsv483112 CNV loss 15286789
nsv598747 CNV gain 21841781
nsv823107 CNV gain 20364138
nsv956450 CNV deletion 24416366

Variation tolerance for MSH3 Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.43; 92.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSH3 Gene

Human Gene Mutation Database (HGMD)
MSH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH3 Gene

Disorders for MSH3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MSH3 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
endometrial cancer
  • endometrial cancer, familial
superficial urinary bladder cancer
  • superficial urinary bladder carcinoma
gastric leiomyoma
  • leiomyoma of the stomach
phlebotomus fever
  • pappataci fever
lynch syndrome
  • coca 1
- elite association - COSMIC cancer census association via MalaCards
Search MSH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSH3_HUMAN
  • 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:0000305 PubMed:8782829}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Familial adenomatous polyposis 4 (FAP4) [MIM:617100]: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. {ECO:0000269 PubMed:27476653}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MSH3

Genetic Association Database (GAD)
MSH3
Human Genome Epidemiology (HuGE) Navigator
MSH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSH3
genes like me logo Genes that share disorders with MSH3: view

No data available for Genatlas for MSH3 Gene

Publications for MSH3 Gene

  1. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H. … Gayther S.A. (Carcinogenesis 2006) 3 22 46 64
  2. Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability. (PMID: 10944853) Orimo H. … Shimada T. (J. Hum. Genet. 2000) 3 4 46 64
  3. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. (PMID: 8782829) Risinger J.I. … Barrett J.C. (Nat. Genet. 1996) 3 4 22 64
  4. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. (PMID: 8942985) Acharya S. … Fishel R. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 22 64
  5. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. (PMID: 27476653) Adam R. … Aretz S. (Am. J. Hum. Genet. 2016) 3 4 64

Products for MSH3 Gene

Sources for MSH3 Gene

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