Aliases for MSH3 Gene
Aliases for MSH3 Gene
External Ids for MSH3 Gene
- HGNC: 7326
- Entrez Gene: 4437
- Ensembl: ENSG00000113318
- OMIM: 600887
- UniProtKB: P20585
Previous GeneCards Identifiers for MSH3 Gene
- GC05P078772
- GC05P080189
- GC05P079989
- GC05P080034
- GC05P079986
- GC05P075159
Summaries 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 Familial Adenomatous Polyposis 4 and Endometrial Cancer. Among its related pathways are Mismatch repair and DNA Double-Strand Break Repair. Gene Ontology (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.
Additional gene information for MSH3 Gene
- Monarch Initiative
- Search for MSH3 at DataMed
- Search for MSH3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH3 Gene
Genomics for MSH3 Gene
GeneHancer (GH) Regulatory Elements for MSH3 Gene
Promoters and enhancers for MSH3 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05I080654 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 580.7 | +0.1 | 91 | 3.8 | HDGF SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 ZNF207 | DHFR MSH3 GC05P080655 CKMT2-AS1 ZCCHC9 | |
| GH05I080623 | Enhancer | 0.7 | Ensembl | 37.9 | -30.6 | -30647 | 0.8 | ELF3 TFAP4 ZNF146 ZNF362 FOXA2 RXRA ZNF189 MZF1 ZNF384 FEZF1 | LINC01337 MSH3 ENSG00000249655 | |
| GH05I080667 | Enhancer | 0.7 | ENCODE | 33.2 | +13.8 | 13801 | 1.2 | PKNOX1 MAX ZNF644 DNMT3B RAD21 RARA YY1 POLR2A HNF4G GATAD2A | DHFR MSH3 ENSG00000248967 | |
| GH05I080754 | Enhancer | 0.9 | Ensembl ENCODE | 17.1 | +102.0 | 101998 | 3.7 | PKNOX1 MZF1 EBF1 FEZF1 IRF4 POLR2A NFATC1 ATF7 ETV6 BCLAF1 | DHFR MSH3 ENSG00000248967 GC05P080808 | |
| GH05I081005 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 5.6 | +352.3 | 352267 | 2.2 | MAFF ZNF316 MAFG ATF2 MAFK EMSY | RASGRF2 RASGRF2-AS1 MSH3 ENSG00000251001 ENSG00000249772 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MSH3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MSH3 gene promoter:
Regulatory Element Products
Genomic Locations for MSH3 Gene
Genomic Locations for MSH3 Gene
- chr5:80,654,648-80,876,815
- (GRCh38/hg38)
- Size:
- 222,168 bases
- Orientation:
- Plus strand
- chr5:79,950,294-80,172,634
- (GRCh37/hg19)
Genomic View for MSH3 Gene
Genes around MSH3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q14.1 by Ensembl
- 5q14.1 by Entrez Gene
- 5q14.1 by HGNC
MSH3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MSH3 Gene
Post-translational modifications for MSH3 Gene
No Post-translational modifications
Other Protein References for MSH3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MSH3
-
Abcam antibodies for MSH3
- Invitrogen Antibodies for MSH3
- GeneTex MSH3 antibody for MSH3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MSH3
Protein Products
-
OriGene Purified Proteins for MSH3
- Search Origene for MassSpec and Protein Over-expression Lysates for MSH3
- Origene Custom Protein Services for MSH3
- Novus Biologicals lysates for MSH3
- antibodies-online: Search results for available MSH3 related products ranked by validation data
- Search GeneTex for Proteins for MSH3
-
Abcam proteins for MSH3
Assay Products
- antibodies-online: Search results for available MSH3 related products ranked by validation data
No data available for DME Specific Peptides for MSH3 Gene
Domains & Families for MSH3 Gene
Gene Families for MSH3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for MSH3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MSH3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P20585- Family:
-
- Belongs to the DNA mismatch repair MutS family. MSH3 subfamily.
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.
Phenotypes From GWAS Catalog for MSH3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000403 | Y-form DNA binding | IBA | -- |
| GO:0000404 | heteroduplex DNA loop binding | IBA | -- |
| GO:0000406 | double-strand/single-strand DNA junction binding | IBA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003684 | damaged DNA binding | IBA | -- |
Phenotypes for MSH3 Gene
- MGI mutant phenotypes for MSH3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MSH3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MSH3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MSH3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH3 gene
- Search ViGene Biosciences for MSH3
CRISPR Products
-
OriGene CRISPR knockouts for MSH3
- genomics-online: gRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- Applied Biological Materials CRISPR for MSH3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
- GenScript: Design CRISPR guide RNA sequences for MSH3
miRNA for MSH3 Gene
- miRTarBase miRNAs that target MSH3
-
- hsa-mir-326 (MIRT004747)
- hsa-mir-92b-3p (MIRT040556)
- hsa-mir-345-5p (MIRT042726)
- hsa-mir-520g-3p (MIRT216879)
- hsa-mir-520h (MIRT216880)
- hsa-mir-4635 (MIRT447591)
- hsa-mir-3686 (MIRT447592)
- hsa-mir-3182 (MIRT447593)
- hsa-mir-4742-3p (MIRT447594)
- hsa-mir-216b-3p (MIRT447595)
- hsa-mir-1246 (MIRT447596)
- hsa-mir-18a-3p (MIRT685510)
- hsa-mir-324-3p (MIRT685511)
- hsa-mir-1913 (MIRT685512)
- hsa-mir-150-5p (MIRT685513)
- hsa-mir-7107-5p (MIRT685514)
- hsa-mir-1234-3p (MIRT685515)
- hsa-mir-1224-3p (MIRT685516)
- hsa-mir-186-3p (MIRT685517)
- hsa-mir-3159 (MIRT685518)
- hsa-mir-520e (MIRT685519)
- hsa-mir-520d-3p (MIRT685520)
- hsa-mir-520c-3p (MIRT685521)
- hsa-mir-520b (MIRT685522)
- hsa-mir-520a-3p (MIRT685523)
- hsa-mir-373-3p (MIRT685524)
- hsa-mir-372-3p (MIRT685525)
- hsa-mir-302e (MIRT685526)
- hsa-mir-302d-3p (MIRT685527)
- hsa-mir-302c-3p (MIRT685528)
- hsa-mir-302b-3p (MIRT685529)
- hsa-mir-302a-3p (MIRT685530)
- hsa-mir-93-5p (MIRT685531)
- hsa-mir-526b-3p (MIRT685532)
- hsa-mir-519d-3p (MIRT685533)
- hsa-mir-20b-5p (MIRT685534)
- hsa-mir-20a-5p (MIRT685535)
- hsa-mir-17-5p (MIRT685536)
- hsa-mir-106b-5p (MIRT685537)
- hsa-mir-106a-5p (MIRT685538)
- hsa-mir-4659b-3p (MIRT711533)
- hsa-mir-4659a-3p (MIRT711534)
- hsa-mir-4743-3p (MIRT711535)
- hsa-mir-498 (MIRT711536)
- hsa-mir-6783-3p (MIRT711537)
- hsa-mir-6888-3p (MIRT711538)
- hsa-mir-1343-3p (MIRT711539)
- hsa-mir-23b-5p (MIRT711540)
- hsa-mir-23a-5p (MIRT711541)
- hsa-mir-3120-5p (MIRT711542)
- hsa-mir-6787-3p (MIRT711543)
- hsa-mir-6742-3p (MIRT711544)
- hsa-mir-6852-5p (MIRT711545)
- hsa-mir-939-3p (MIRT711546)
- hsa-mir-4775 (MIRT719503)
- hsa-mir-4735-5p (MIRT719504)
- hsa-mir-6872-3p (MIRT719505)
- hsa-mir-590-3p (MIRT719506)
- hsa-mir-3163 (MIRT733575)
- hsa-mir-145-5p (MIRT734568)
- hsa-mir-7-5p (MIRT735323)
miRNA Products
- Search ViGene Biosciences for MSH3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MSH3
- Browse OriGene Inhibitory RNA Products For MSH3
- genomics-online: shRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH3 gene
Clone Products
- Sino Biological Human cDNA Clone for MSH3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MSH3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for MSH3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MSH3
-
ViGene Biosciences adenoviral particle packaged cDNA for MSH3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MSH3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH3 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSH3 Gene
Localization for MSH3 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016020 | membrane | HDA,IDA | 19946888 |
| GO:0032302 | MutSbeta complex | IDA | 8942985 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for MSH3 Gene
Pathways & Interactions for MSH3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mismatch repair |
.54
|
.01
|
| 2 | Endometrial cancer | ||
| 3 | Pathways in cancer | ||
| 4 | Platinum drug resistance | ||
| 5 | Colorectal Cancer Metastasis | ||
Pathways by source for MSH3 Gene
3 Reactome pathways for MSH3 Gene
4 KEGG pathways for MSH3 Gene
1 GeneGo (Thomson Reuters) pathway for MSH3 Gene
3 Qiagen pathways for MSH3 Gene
Interacting Proteins for MSH3 Gene
Selected Interacting proteins:
ENSP00000265081
P20585-MSH3_HUMAN
for MSH3 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IDA | 8942985 |
| GO:0006298 | mismatch repair | IMP,TAS | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0016447 | somatic recombination of immunoglobulin gene segments | IBA | -- |
| GO:0043570 | maintenance of DNA repeat elements | IMP | 16388310 |
No data available for SIGNOR curated interactions for MSH3 Gene
Transcripts for MSH3 Gene
mRNA/cDNA for MSH3 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (36) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MSH3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MSH3
- genomics-online: gRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- Applied Biological Materials CRISPR for MSH3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
- GenScript: Design CRISPR guide RNA sequences for MSH3
miRNA Products
- Search ViGene Biosciences for MSH3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MSH3
- Browse OriGene Inhibitory RNA Products For MSH3
- genomics-online: shRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH3 gene
Clone Products
- Sino Biological Human cDNA Clone for MSH3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MSH3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for MSH3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MSH3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Endoderm (Gastrulation Derivatives)
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
NURSA nuclear receptor signaling pathways regulating expression of MSH3 Gene:
MSH3SOURCE GeneReport for Unigene cluster for MSH3 Gene:
Hs.280987Evidence 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
Regions:
Pelvis:
- uterus
Primer Products
-
OriGene qPCR primer pairs for MSH3
- genomics-online: primer clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MSH3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | MSH3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MSH3 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Msh3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Msh3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MSH3 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | MSH3 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MSH3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | msh3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | msh3 33 34 34 |
|
||
| Dr.28362 33 |
|
||||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH3 34 36 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MSH3 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os04g0682900 33 |
|
||
| Os.27360 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.1594 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | msh3 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08115 33 |
|
- 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)
Paralogs for MSH3 Gene
(1) SIMAP similar genes for MSH3 Gene using alignment to 2 proteins:
No data available for Paralogs for MSH3 Gene
Variants for MSH3 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs587776701 | pathogenic, Familial adenomatous polyposis 4, Endometrial carcinoma | 80,675,096(+) | AAAAAAAA/AAAAAAA | coding_sequence_variant, frameshift | |
| rs70991108 | uncertain-significance, Gastrointestinal stromal tumor | 80,654,345(+) | /TGGCGCGTCCCGCCCAGGT | upstream_transcript_variant | |
| rs751326348 | pathogenic, Familial adenomatous polyposis 4 | 80,813,687(+) | CC/C | coding_sequence_variant, frameshift | |
| rs866260675 | pathogenic, Familial adenomatous polyposis 4 | 80,778,719(+) | G/A | splice_acceptor_variant | |
| rs886037878 | pathogenic, Familial adenomatous polyposis 4 | 80,864,811(+) | A/C | splice_acceptor_variant |
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)
Additional Variant Information for MSH3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH3 Gene
Disorders for MSH3 Gene
(7) MalaCards diseases for MSH3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial adenomatous polyposis 4 |
|
|
| endometrial cancer |
|
|
| gastric leiomyoma |
|
|
| superficial urinary bladder cancer |
|
|
| lynch syndrome |
|
|
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.
Additional Disease Information for MSH3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MSH3 Gene
Publications for MSH3 Gene
- Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H … Gayther SA (Carcinogenesis 2006) 3 22 44 58
- Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability. (PMID: 10944853) Orimo H … Shimada T (Journal of human genetics 2000) 3 4 44 58
- hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. (PMID: 8942985) Acharya S … Fishel R (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58
- Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. (PMID: 8782829) Risinger JI … Barrett JC (Nature genetics 1996) 3 4 22 58
- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. (PMID: 27476653) Adam R … Aretz S (American journal of human genetics 2016) 3 4 58
Products for MSH3 Gene
- Browse R&D Systems for Antibodies
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- OriGene Purified Proteins for MSH3
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSH3
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- Browse OriGene miRNA Products For MSH3
- GenScript: Next-day shipping of latest version cDNA ORF clones for MSH3 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MSH3
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- GenScript: Design CRISPR guide RNA sequences for MSH3
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MSH3
- Sino Biological Human cDNA Clone for MSH3
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for MSH3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for MSH3
- VectorBuilder custom plasmid, inducible vectors for MSH3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 51 available MSH3 Antibodies ranked by validation data
- Compare Top MSH3 Antibodies
- antibodies-online: Search results for available MSH3 related products ranked by validation data
- antibodies-online: Search results for available MSH3 related products ranked by validation data
- GeneTex MSH3 antibody for MSH3
- Search GeneTex for Proteins for MSH3
- ViGene Biosciences adenoviral particle packaged cDNA for MSH3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for MSH3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for MSH3 gene
- Search ViGene Biosciences for MSH3
- Santa Cruz Biotechnology (SCBT) Antibodies for MSH3
- Search Santa Cruz Biotechnology (SCBT) for MSH3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
- Horizon Cell Lines for MSH3
- genomics-online: cdna clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- orf clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- genomics-online: gRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- genomics-online: primer clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
- genomics-online: shRNA clones - Search results for 99 available MSH3 gene related products
- Overview of 99 available MSH3 gene related products
Sources for MSH3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (119) Disease Ontology
- (120) Genetics Home Reference
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- (123) CDC
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- (125) NCBI Bookshelf
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew