Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MSH2 | 4436 | MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | 2 | FCC1; COCA1; HNPCC; LCFS2; HNPCC1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22965873 | 2012 | Cell line : HCT 116, SW 480 Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 38 CRC (19 MSI-H and 19 MSS) compared to matched normal tissue Stage : - | Microarray, real time RT-PCR | Down-regulation | - | DUSP4 overexpression in CRC cell lines through DUSP4 transfection caused upregulated expression of MAPK targets CDC25A, CCND1, EGR1, FOS, MYC and CDKN1A in HCT116 as well as downregulation of mismatch repair gene MSH2 in SW480. |
| 21988782 | 2012 | Cell line : - Source : Data obtained from PubMed, Springer, Lippincott, Williams & Wilkins and HighWire Press databases. Sample Type : - No. of Sample : - Stage : - | Meta -analysis | Mutation | - | Somatic mutations in the hMLH1 and hMSH2 genes play a vital role in CRC and a high prevalence was found in this meta-analysis. A higher prevalence of somatic mutations in hMSH2 was found in hereditary non-polyposis CRC than in sporadic CRC. |
| 22669205 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : 76 Stage : - | PCR-DHPLC and PCR-SSCP | Mutation | - | Two mutations were identified in the MSH2 gene. |
| 22987205 | 2013 | Cell line : - Source : University of Maryland Medical Center or Baltimore Veterans Administration Medical Center and Queen Mary Hospital in Hong Kong. Sample Type : CRC tumor and normal tissue No. of Sample : 196 Stage : TNM Stage I-IV | real time RT-PCR, Measurement of miR-21 | Mutation | - | Eight patients lost expression of MSH2: Found 1 mutation in 2 patients and 2 mutations in four. Describe the first case of somatic mosaicism after de novo mutation in MSH2. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
| Chromosome | 2 |
| Location | 2p21 |
| Start | 47403067 |
| End | 47564579 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 161513 |
| OMIM ID | 609309 |
| HGNC ID | HGNC:7325 |
| Unigene ID | Hs.597656 |
| Ensembl ID | ENSG00000095002 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_000251.2 |
|---|---|
| Exon | join(1..336,5335..5489,7028..7306,9348..9494,11203..11352, 13230..13363,26676..26875,42482..42591,59965..60088, 63592..63742,67899..67996,71959..72204,73301..73505, 75206..75453,77630..77805,79713..80162) | mRNA Sequence | Download Select all |
| Length | 3226 |
CDS Information
| Location | join(126..336,5335..5489,7028..7306,9348..9494, 11203..11352,13230..13363,26676..26875,42482..42591, 59965..60088,63592..63742,67899..67996,71959..72204, 73301..73505,75206..75453,77630..77805,109237..109354, 159023..159045) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | - |
Protein Information
| Protein ID | NP_000242.1 |
|---|---|
| Protein Name | MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) |
| Molecular Wt. (Da) | 104612 |
| Protein Sequence | Download Select all |
| Length | 934 |
| Uniprot ID | P49450 |
| Ensembl Protein ID | ENSP00000233505 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 860;- |
| T | Phosphorylation | 897 |
| S | Phosphorylation | 900 |
| K | Acetylation | 555 |
| K | Acetylation | 635 |
| T | Phosphorylation | 206 |
| T | Phosphorylation | 732 |
| S | Phosphorylation | 734 |
| T | Phosphorylation | 32 |
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 |
|---|---|---|---|---|---|
| 1387 | CREBBP | 2534 | NP_004371.2 | in vitro;in vivo | 16051665 |
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 |
|---|---|---|
| cd03285 | 633-852 | ABC_MSH2_euk |
| cl21455 | 633-852 | P-loop_NTPase superfamily |
| pfam00488 | 619-854 | MutS_V |
| smart00534 | 664-848 | MUTSac |
| cd03284 | 633-846 | ABC_MutS1 |
| cd03243 | 634-836 | ABC_MutS_homologs |
| cd03287 | 632-844 | ABC_MSH3_euk |
| cd03286 | 633-844 | ABC_MSH6_euk |
| cd03282 | 650-801 | ABC_MSH4_euk |
| pfam05192 | 305-610 | MutS_III |
| cl17822 | 305-610 | MutS_III superfamily |
| cd03281 | 633-834 | ABC_MSH5_euk |
| cd03280 | 634-832 | ABC_MutS2 |
| cd03227 | 647-794 | ABC_Class2 |
| pfam01624 | 18-132 | MutS_I |
| cl03286 | 18-132 | MutS_I superfamily |
| cd03283 | 634-834 | ABC_MutS-like |
| pfam05188 | 158-284 | MutS_II |
| cl04975 | 158-284 | MutS_II superfamily |
| pfam05190 | 474-569 | MutS_IV |
| cd00267 | 638-793 | ABC_ATPase |
| COG0249 | 23-853 | MutS |
| PRK05399 | 184-853 | PRK05399 |
| TIGR01070 | 36-910 | mutS1 |
| smart00533 | 323-645 | MUTSd |
| COG1193 | 326-932 | MutS2 |
| PRK00409 | 559-802 | PRK00409 |
| TIGR01069 | 630-931 | mutS2 |
Ontology Information
| HPRD ID | 7629 |
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Molecular function unknown (GO:0005554) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.