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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 7 | H_DJ0042M02.9, HNPCC4 |
- 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 |
|---|---|---|---|---|---|---|
| 25871621 | 2015 | Cell line : - Source : - Sample Type : CRC tumor and adjacent normal tissue No. of Sample : 16 Stage : - | Immunohistochemistry | Mutation | - | In total, 32 tumors from 31 patients demonstrated isolated loss of PMS2 immunohistochemical expression, including 16 colorectal carcinomas and 16 endometrial carcinomas. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008] |
| Chromosome | 7 |
| Location | 7p22.1 |
| Start | 6012870 |
| End | 6048737 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 35868 |
| OMIM ID | 600259 |
| HGNC ID | HGNC:9122 |
| Unigene ID | Hs.632637 |
| Ensembl ID | ENSG00000122512 |
| PharmGKB ID | PA33448 |
mRNA Information
| mRNA ID | ?NM_000535.5 |
|---|---|
| Exon | join(1..110,3076..3215,5049..5135,6471..6654,9832..9999, 11684..11781,13474..13573,17050..17134,19152..19307, 21487..22348,26116..26283,30411..30511,31350..31519, 35565..38182) | mRNA Sequence | Download Select all |
| Length | 5047 |
Protein Information
| Protein ID | NP_000526.1 |
|---|---|
| Protein Name | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
| Molecular Wt. (Da) | 22115 |
| Protein Sequence | Download Select all |
| Length | 862 |
| Uniprot ID | Q9Y6Q9 |
| Ensembl Protein ID | ENSP00000361065 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| T | Phosphorylation | 597 |
| T | Phosphorylation | 462 |
| T | Phosphorylation | 573 |
| T | Phosphorylation | 438 |
| S | Phosphorylation | 403 |
| S | Phosphorylation | 268 |
| S | Phosphorylation | 445 |
| S | Phosphorylation | 310 |
| S | Phosphorylation | 601 |
| S | Phosphorylation | 466 |
| S | Phosphorylation | 603 |
| S | Phosphorylation | 468 |
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 |
|---|---|---|---|---|---|
| 4292 | MLH1 | 390 | NP_000240.1 | in vitro;yeast 2-hybrid | 112 928 421 003 772 000 000 000 000 000 000 000 000 000 000 000 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Fanconi anemia pathway | hsa03460 |
| Mismatch repair | hsa03430 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd03484 | 222-364 | MutL_Trans_hPMS_2_like |
| cl02783 | 222-364 | TopoII_MutL_Trans superfamily |
| cd00075 | 35-159 | HATPase_c |
| cl00075 | 35-159 | HATPase_c superfamily |
| smart00853 | 678-821 | MutL_C |
| cl07336 | 678-821 | MutL_C superfamily |
| cd00782 | 223-359 | MutL_Trans |
| pfam08676 | 679-822 | MutL_C |
| pfam01119 | 227-359 | DNA_mis_repair |
| cd00329 | 223-344 | TopoII_MutL_Trans |
| pfam13589 | 34-139 | HATPase_c_3 |
| cd03485 | 222-354 | MutL_Trans_hPMS_1_like |
| cd03483 | 222-348 | MutL_Trans_MLH1 |
| pfam02518 | 31-137 | HATPase_c |
| cd03482 | 259-343 | MutL_Trans_MutL |
| cd03486 | 255-355 | MutL_Trans_MLH3 |
| smart00387 | 35-95 | HATPase_c |
| TIGR00585 | 13-344 | mutl |
| COG0323 | 15-856 | MutL |
| PRK00095 | 14-853 | mutL |
| PRK04184 | 34-79 | PRK04184 |
| COG3290 | 18-91 | CitA |
| COG1389 | 34-78 | COG1389 |
Ontology Information
| HPRD ID | 2080 |
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Transferase activity, transferring aldehyde or ketonic groups (GO:0016744) |
| Biological Process | Metabolism (GO:0008152); Energy pathways (GO:0006091) |
Drug Information
No matching records could be found.