Free for academic non-profit institutions. Other users need a Commercial license
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 referen... See more...
Aliases for MSH3 Gene
Aliases for MSH3 Gene
External Ids for MSH3 Gene
- HGNC: 7326
- NCBI Entrez Gene: 4437
- Ensembl: ENSG00000113318
- OMIM®: 600887
- UniProtKB/Swiss-Prot: 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and single-stranded DNA binding. An important paralog of this gene is MSH6.
UniProtKB/Swiss-Prot Summary 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
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSH3 Gene
Genomics for MSH3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MSH3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MSH3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MSH3
- Top Transcription factor binding sites by QIAGEN in the MSH3 gene promoter:
-
- p53
- Pax-3
- POU2F1
- POU2F1a
- Sp1
- USF-1
- USF-1:USF-2
- USF1
- USF2
Genomic Locations for MSH3 Gene
Latest Assembly
- chr5:80,654,652-80,876,815
- (GRCh38/hg38)
- Size:
- 222,164 bases
- Orientation:
- Plus strand
Previous Assembly
- chr5:79,950,471-80,172,634
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 222,164 bases
- Orientation:
- Plus strand
Genomic View for MSH3 Gene
Genes around MSH3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q14.1 by HGNC
- 5q14.1 by Entrez Gene
- 5q14.1 by Ensembl
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:
-
- Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Heterodimer consisting of MSH2-MSH3 (MutS beta) (PubMed:8942985). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1 (PubMed:11427529). Interacts with MCM9 (PubMed:26300262).
- 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
Other Protein References for MSH3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences MSH3 Antibody
- Novus Biologicals Antibodies for MSH3
-
Abcam antibodies for MSH3
- Invitrogen Antibodies for MSH3 (AFLGC-MSH3)
-
Biorbyt antibodies for MSH3
-
Boster Bio Antibodies for MSH3
-
Custom Antibody ServicesProSci Antibodies for MSH3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MSH3
Protein products for research
-
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
-
Abcam proteins for MSH3
Assay products for research
- 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 intracellular proteins
Protein Domains for MSH3 Gene
- InterPro:
- Blocks:
-
- MutS III
- DNA mismatch repair protein MutS, N-terminal
Suggested Antigen Peptide Sequences for MSH3 Gene
- GenScript: Design optimal peptide antigens:
-
- MutS homolog 3 (E. coli) (A1L480_HUMAN)
- Mismatch repair protein 1 (MSH3_HUMAN)
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
- 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.
- 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
Phenotypes From GWAS Catalog for MSH3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| 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 | -- |
Phenotypes for MSH3 Gene
- MGI mutant phenotypes for MSH3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MSH3:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MSH3 - Starting at $85 >
- * MSH3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MSH3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSH3
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSH3
- Browse OriGene Inhibitory RNA Products For MSH3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSH3
Clone products for research
- Applied Biological Materials (abm): Clones for MSH3 - Starting at $45 >
- * MSH3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MSH3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSH3
Cell Lines for research
-
Horizon Cell Lines for MSH3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSH3 Gene
Localization for MSH3 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 26300262 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0032300 | mismatch repair complex | IBA | 21873635 |
| 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
Mismatch Repair in Eukaryotes
.54
|
.01
|
| 2 | Endometrial cancer | ||
| 3 | Pathways in cancer | ||
| 4 | Platinum drug resistance | ||
| 5 | Colorectal Cancer Metastasis |
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
- DNA damage_Role of Brca1 and Brca2 in DNA repair
3 Qiagen pathways for MSH3 Gene
- Colorectal Cancer Metastasis
- DNA Repair Mechanisms
- Mismatch Repair in Eukaryotes
Interacting Proteins for MSH3 Gene
Selected Interacting proteins:
P20585-MSH3_HUMAN
ENSP00000265081
for MSH3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MSH3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000710 | meiotic mismatch repair | IBA | 21873635 |
| GO:0000735 | removal of nonhomologous ends | IBA | 21873635 |
| GO:0006281 | DNA repair | IDA | 8942985 |
| GO:0006298 | mismatch repair | IEA,TAS | -- |
| GO:0006312 | mitotic recombination | IBA | 21873635 |
No data available for SIGNOR curated interactions for MSH3 Gene
Transcripts for MSH3 Gene
mRNA/cDNA for MSH3 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000265081 4443 nts (view in UCSC)
- ENST00000512258 677 nts (view in UCSC)
- ENST00000512531 531 nts (view in UCSC)
- ENST00000658259 3295 nts (view in UCSC)
- ENST00000659302 1570 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MSH3 - Starting at $85 >
- * MSH3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MSH3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSH3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSH3
- Browse OriGene Inhibitory RNA Products For MSH3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSH3
Clone products for research
- Applied Biological Materials (abm): Clones for MSH3 - Starting at $45 >
- * MSH3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MSH3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSH3
Relevant External Links for MSH3 Gene
- GeneLoc Exon Structure for
- MSH3
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, MaxQB, and MOPED for MSH3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MSH3
SOURCE GeneReport for Unigene cluster for MSH3 Gene:
Hs.280987Evidence on tissue expression from TISSUES for MSH3 Gene
- Muscle(4.3)
- Intestine(2.5)
- Stomach(2.5)
- Blood(2.4)
- Kidney(2.2)
- Nervous system(2.1)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MSH3 Gene
Germ Layers:
- mesoderm
Systems:
- reproductive
Regions:
Pelvis:
- uterus
Primer products for research
-
OriGene qPCR primer pairs for MSH3
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MSH3 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MSH3 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Msh3 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Msh3 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | MSH3 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MSH3 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MSH3 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msh3 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | msh3 29 30 30 |
|
OneToMany | |
| Dr.28362 29 |
|
||||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH3 30 32 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MSH3 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0682900 29 |
|
||
| Os.27360 29 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.1594 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | msh3 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08115 29 |
|
- Species where no ortholog for MSH3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MSH3: view image
- Alliance of Genome Resources:
- Additional Orthologs for MSH3
Paralogs for MSH3 Gene
Variants for MSH3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MSH3 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000095 | Uncertain Significance: not provided | 80,761,632(+) |
A/G NM_002439.5(MSH3):c.1850A>G (p.Lys617Arg) |
MISSENSE | |
| 1000481 | Uncertain Significance: not provided | 80,656,523(+) |
G/A NM_002439.5(MSH3):c.350G>A (p.Gly117Asp) |
MISSENSE | |
| 1000529 | Uncertain Significance: not provided | 80,744,506(+) |
A/G NM_002439.5(MSH3):c.1654A>G (p.Thr552Ala) |
MISSENSE | |
| 1000530 | Uncertain Significance: not provided | 80,725,453(+) |
T/C NM_002439.5(MSH3):c.1341T>C (p.Ser447=) |
SYNONYMOUS | |
| 1000592 | Uncertain Significance: not provided | 80,864,873(+) |
T/G NM_002439.5(MSH3):c.3061T>G (p.Tyr1021Asp) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH3 Gene
Disorders for MSH3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial adenomatous polyposis 4 |
|
|
| endometrial cancer |
|
|
| inherited cancer-predisposing syndrome |
|
|
| cutaneous telangiectasia and cancer syndrome, familial |
|
|
| tumor predisposition 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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for MSH3
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for MSH3 Gene
Publications for MSH3 Gene
- 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 72
- 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 72
- Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H … Gayther SA (Carcinogenesis 2006) 3 22 40
- 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 40
- 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
ExternalLinks
Products for MSH3 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MSH3
- Search Origene for MassSpec and Protein Over-expression Lysates for MSH3
- Origene Custom Protein Services for MSH3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSH3
- Browse OriGene Inhibitory RNA Products For MSH3
- OriGene qPCR primer pairs for MSH3
- OriGene CRISPR knockouts for MSH3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MSH3
- Sino Biological Human cDNA Clone for MSH3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MSH3
- Novus Biologicals lysates for MSH3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MSH3
- Abcam proteins for MSH3
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for MSH3 (AFLGC-MSH3)
- VectorBuilder Custom and pre-made DNA vectors for MSH3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MSH3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MSH3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MSH3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MSH3
- antibodies-online: Show 11 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
- Santa Cruz Biotechnology (SCBT) Antibodies for MSH3
- Search Santa Cruz Biotechnology (SCBT) for MSH3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
- Custom Antibody ServicesProSci Antibodies for MSH3
- Search for MSH3 Proteins at ProSci
- Horizon Cell Lines for MSH3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSH3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSH3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MSH3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSH3
- Boster Bio Antibodies for MSH3
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for MSH3
Sources for MSH3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources