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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
- 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 Pathways in cancer and Endometrial cancer. 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
- Monarch Initiative
- Search for MSH3 at DataMed
- Search for MSH3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05J080652 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 530.6 | +0.1 | 91 | 3.8 | HNRNPK ZBTB40 EP300 CTCF SIN3A POLR2G SP1 GTF2E2 PHF8 ZFX | DHFR MSH3 HSALNG0043002 lnc-ANKRD34B-5 CKMT2-AS1 ZCCHC9 | |
| GH05J080667 | Enhancer | 0.8 | Ensembl ENCODE | 33.2 | +13.8 | 13801 | 1.2 | TGIF2 POLR2A JUND ELF1 DNMT3B TBP RAD21 RXRA CEBPB RARA | DHFR MSH3 HSALNG0043002 ENSG00000248967 lnc-DHFR-4 | |
| GH05J080623 | Enhancer | 0.7 | Ensembl | 37.9 | -32.9 | -32948 | 6.6 | CUX1 FOXA2 OSR2 ZBTB17 SPI1 ZNF189 ZNF146 HOMEZ FEZF1 RXRA | LINC01337 DHFR MSH3 piR-60990-002 | |
| GH05J080753 | Enhancer | 0.9 | Ensembl ENCODE | 18.2 | +101.1 | 101112 | 5.5 | SP1 EP300 ZNF423 RCOR1 BCL11A TCF12 CBFB ZNF384 IRF1 ARNT | DHFR MSH3 ENSG00000248967 lnc-DHFR-4 piR-50444-369 | |
| GH05J080615 | Enhancer | 0.4 | Ensembl | 34.3 | -39.0 | -39047 | 1.6 | SCRT1 STAT1 SCRT2 | DHFR MSH3 piR-60990-002 LINC01337 |
- 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 UCSC Golden Path with GeneCards custom track
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
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)
- Size:
- 222,341 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:
Antibody Products
- Creative Diagnostics Anti-MSH3 (aa 916-1137) polyclonal antibody
- Novus Biologicals Antibodies for MSH3
-
Abcam antibodies for MSH3
- Invitrogen Antibodies for MSH3 (AFLGC-MSH3)
-
Biorbyt antibodies for MSH3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MSH3
Protein Products
- Creative Biomart Recombinant Human MSH3 protein, His-tagged
-
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
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
- Blocks:
-
- MutS III
- DNA mismatch repair protein MutS, N-terminal
- InterPro:
- ProtoNet:
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:0003677 | DNA binding | IEA | -- |
| GO:0003697 | contributes_to single-stranded DNA binding | IDA | 11809883 |
| GO:0005515 | protein binding | IPI | 8942985 |
| GO:0005524 | ATP binding | IBA,IEA | 21873635 |
| GO:0008094 | DNA-dependent ATPase activity | IBA | 21873635 |
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
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MSH3 - Select products 50% OFF >
- * MSH3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MSH3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for MSH3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSH3
- genomics-online: gRNA clones - Search for available MSH3 gRNA products
- Overview of 107 available MSH3 gene related products
-
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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search for available MSH3 shRNA products
- Overview of 107 available MSH3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MSH3 - Select products 50% OFF >
- * MSH3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MSH3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for MSH3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSH3
- genomics-online: cdna clones - Search for available MSH3 CDNA products
- Overview of 107 available MSH3 gene related products
- orf clones - Search for available MSH3 ORF products
- Overview of 107 available MSH3 gene related products
Cell Line Products
-
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 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 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
Drugs & Compounds for MSH3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Creative Biomart Recombinant Human MSH3 protein, His-tagged
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 bps (ENST00000265081.7)
- ENST00000512258 677 bps (ENST00000512258.1)
- ENST00000512531 531 bps (ENST00000512531.1)
- ENST00000658259 3295 bps (ENST00000658259.1)
- ENST00000659302 1570 bps (ENST00000659302.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MSH3 - Select products 50% OFF >
- * MSH3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MSH3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for MSH3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSH3
- genomics-online: gRNA clones - Search for available MSH3 gRNA products
- Overview of 107 available MSH3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH3
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search for available MSH3 shRNA products
- Overview of 107 available MSH3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MSH3 - Select products 50% OFF >
- * MSH3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MSH3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for MSH3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSH3
- genomics-online: cdna clones - Search for available MSH3 CDNA products
- Overview of 107 available MSH3 gene related products
- orf clones - Search for available MSH3 ORF products
- Overview of 107 available MSH3 gene related products
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(4.1)
- 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 for available MSH3 Primer products
- Overview of 107 available MSH3 gene related products
Gene Expression Assay 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 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MSH3 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MSH3 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Msh3 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Msh3 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | MSH3 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MSH3 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MSH3 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | msh3 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | msh3 31 31 30 |
|
OneToMany | |
| Dr.28362 30 |
|
||||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH3 33 31 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MSH3 30 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os04g0682900 30 |
|
||
| Os.27360 30 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.1594 30 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | msh3 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08115 30 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MSH3: view image
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 |
|---|---|---|---|---|---|
| 638366 | Uncertain Significance: not specified | 80,654,905(+) | G/GCCGCAGCGCCCGC | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION,FIVE_PRIME_UTR_VARIANT | |
| 638856 | Uncertain Significance: not provided | 80,767,940(+) | C/T | MISSENSE_VARIANT | |
| 638923 | Uncertain Significance: not provided | 80,744,495(+) | GTCTT/G | INTRON_VARIANT | |
| 639070 | Uncertain Significance: not provided | 80,873,211(+) | G/A | MISSENSE_VARIANT | |
| 639097 | Pathogenic: not provided | 80,728,942(+) | GG/C | FRAMESHIFT_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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH3 Gene
Disorders for MSH3 Gene
(23) MalaCards diseases for MSH3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial adenomatous polyposis 4 |
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| endometrial cancer |
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| familial adenomatous polyposis |
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| dracunculiasis |
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| cavernous sinus meningioma |
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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 23 41 54
- 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 41 54
- 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 23 54
- 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 23 54
- 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 54
ExternalLinks
Products for MSH3 Gene
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Sources for MSH3 Gene
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