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General Information
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
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- Domain
- Ontology
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 18922920 | 2008 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Microcell-mediated chromosome transfer,SSCP, sequencing | Down-regulation | - | Loss of MutS homologue 3 causes genetic instability in human colorectal cancer.
|
| 20708618 | 2010 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 24 adenomas and 84 colorectal cancers Stage : TNM Stage I-IV | Immunohistochemistry, PCR and DNA Sequencing | Down-regulation | - | Loss of hMSH3 corresponds with multiple tetranucleotide frameshifts mutaion. |
| 22249440 | 2012 | Cell line : - Source : Sample Type : CRC tumor and normal tissue No. of Sample : 228 and 204 patients with sporadic and hereditary disease respectively Stage : - | - | Down-regulation | - | High frequency of LOH as well as the aberrant protein expression in some tumors indicates an involvement of MSH3 impairment in MSI-L CRC. |
| 22343000 | 2012 | Cell line : - Source : Toho University's Ohmori Hospital (Tokyo) and University of California San Diego. Sample Type : CRC tumor and normal tissue No. of Sample : 26 CRCs Stage : - | Immunohistochemistry, qRT-PCR, Western blotting, Luciferase assay | Down-regulation | - | Hypoxia may down-regulate hMSH3, which may result in MSI-L/EMAST in CRC tissues. |
| 17384679 | 2007 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry, multiplex PCR | Mutation | - | Frame shift mutation in MSH3 gene by which missmatch repair deficient cells accumulate functional alteration. The so-called real-target mutational events were found to be distributed among genes involved in different functional pathways of the DNA metabolism including mismatch repair gene MSH3. Here screened 39 MSI colorectal tumours for the presence of mutations in 25 genes involved in DNA damage signalling and repair pathways. |
| 22496206 | 2012 | Cell line : - Source : Istituto Clinico Humanitas (Milan, Italy). Sample Type : - No. of Sample : - Stage : - | Immunohistochemistry, PCR, RFLP and methylation-sensitive PCR | Mutation | - | Mutation due to inactivation of DNA mismatch repair syste,results MSI. Out of 84 MLH1-deficient CRCs, 31 had MSH3 loss, biallelic frameshift mutations at mononucleotide repeats accounting for most (78%) MSH3 losses. |
| 17205513 | 2007 | Cell line : - Source : Washington County, Maryland Sample Type : Case control study No. of Sample : 237 colorectal cancer cases and a subcohort of 2,189 participants Stage : - | Genotyping | Polymorhpism | - | This study suggests that common polymorphisms in the mismatch repair gene, MSH3, may increase the risk of colorectal cancer, especially proximal colon cancer. The MSH3 1036A variant was found to be associated with an increased risk of colorectal cancer . |
| 19115210 | 2009 | Cell line : - Source : - Sample Type : Case control study No. of Sample : 2,060 CRC patients case Stage : - | Genotyping | Polymorhpism | - | Genotyped 2,060 patients for 68 SNPs in 7 mismatch repair genes (MLH1, MLH3, MSH2, MSH3, MSH6, PMS1 and PMS2), using a single nucleotide polymorphism (SNP) tagging approach. The most significant SNP associated with disease specific survival after adjustment was rs863221, located in MSH3. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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] | Chromosome | 5 |
| Location | 5q11-q12 |
| Start | 80654648 |
| End | 80876815 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 222168 |
| OMIM ID | 600887 |
| HGNC ID | HGNC:7326 |
| Unigene ID | Hs.280987 |
| Ensembl ID | ENSG00000113318 |
| PharmGKB ID | PA31134 |
mRNA Information
| mRNA ID | NM_001290354.1 |
|---|---|
| Exon | complement(<1..334) | mRNA Sequence | Download Select all |
| Length | 4472 |
CDS Information
| Location | join(81..317,1764..1884,10496..10716,15450..15662, 17597..17713,18094..18211,20336..20481,24280..24446, 70806..70918,74204..74318,86817..86901,89859..89968, 106899..107031,113286..113473,114188..114356, 121047..121111,124073..124189,132918..133025, 138086..138197,158937..159094,199483..199669, 210166..210295,218469..218640,221104..221215) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS34195.1 |
Protein Information
| Protein ID | NP_002430.3 |
|---|---|
| Protein Name | MutS homolog 3 (E. coli) |
| Molecular Wt. (Da) | 127281 |
| Protein Sequence | Download Select all |
| Length | 1137 |
| Uniprot ID | P13569 |
| Ensembl Protein ID | ENSP00000003084 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 201;- |
| S | Phosphorylation | 201;- |
| S | Phosphorylation | 111 |
| S | Phosphorylation | 116 |
| S | Phosphorylation | 111 |
| S | Phosphorylation | 116 |
| T | Phosphorylation | 1099 |
| T | Phosphorylation | 1099 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 4436 | MSH2 | 389 | NP_000242.1 | in vitro;in vivo;yeast 2-hybrid | 97 746 768 942 985 |
| 5111 | PCNA | 1456 | NP_002583.1 | in vitro;in vivo | 112 740 571 100 580 000 000 000 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Colorectal cancer | hsa05210 |
| Mismatch repair | hsa03430 |
| Pathways in cancer | hsa05200 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam00488 | 846-1095 | MutS_V |
| cl21455 | 846-1095 | P-loop_NTPase superfamily |
| cd03287 | 857-1086 | ABC_MSH3_euk |
| smart00534 | 891-1090 | MUTSac |
| cd03284 | 859-1086 | ABC_MutS1 |
| cd03286 | 859-1086 | ABC_MSH6_euk |
| cd03243 | 858-1076 | ABC_MutS_homologs |
| cd03285 | 858-1094 | ABC_MSH2_euk |
| cd03281 | 859-1076 | ABC_MSH5_euk |
| cd03282 | 859-1056 | ABC_MSH4_euk |
| pfam05192 | 539-839 | MutS_III |
| cl17822 | 539-839 | MutS_III superfamily |
| pfam01624 | 230-343 | MutS_I |
| cl03286 | 230-343 | MutS_I superfamily |
| cd03280 | 859-1074 | ABC_MutS2 |
| cd03283 | 858-1076 | ABC_MutS-like |
| cd03227 | 858-1034 | ABC_Class2 |
| pfam05188 | 366-523 | MutS_II |
| cl04975 | 366-523 | MutS_II superfamily |
| cd00267 | 859-1017 | ABC_ATPase |
| pfam05190 | 717-783 | MutS_IV |
| COG0249 | 225-1111 | MutS |
| PRK05399 | 229-1102 | PRK05399 |
| TIGR01070 | 230-1094 | mutS1 |
| smart00533 | 557-870 | MUTSd |
| COG1193 | 563-1105 | MutS2 |
| TIGR01069 | 674-1132 | mutS2 |
| PRK00409 | 786-1105 | PRK00409 |
| COG1193 | 889-1010 | MutS2 |
Ontology Information
| HPRD ID | 3668 |
|---|---|
| Molecular Class | Unknown |
| Molecular Function | DNA binding (GO:0003677) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.