| URN | urn:agi-llid:5395 |
|---|---|
| Connectivity | 48 |
| Name | Pms2 |
| Description | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
| Notes | This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer, with a Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed. |
| Pathway | colorectal cancer pathway |
|---|
| GO Molecular Function | hydrolase activity |
|---|---|
| DNA binding | |
| MutSalpha complex binding | |
| ATP binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| single base insertion or deletion binding | |
| nuclease activity | |
| endonuclease activity |
| GO Cellular Component | MutLalpha complex |
|---|---|
| nucleus |
| GO Biological Process | meiosis |
|---|---|
| DNA repair | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug |
| Ariadne Ontology | DNA repair |
|---|
| Group | DNA repair |
|---|---|
| meiosis | |
| DNA repair | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug | |
| hydrolase activity | |
| DNA binding | |
| MutSalpha complex binding | |
| ATP binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| single base insertion or deletion binding | |
| nuclease activity | |
| endonuclease activity | |
| MutLalpha complex | |
| nucleus |
| MedScan ID | 5395 |
|---|
| Hugo ID | 9122 |
|---|
| Human chromosome position | 7p22.2 |
|---|
| LocusLink ID | 5395 |
|---|---|
| 18861 | |
| 288479 |
| Alias | PMSL2 |
|---|---|
| HNPCC4 | |
| PMS2CL | |
| mismatch repair endonuclease PMS2 | |
| H_DJ0042M02.9 | |
| PMS1 protein homolog 2 | |
| DNA mismatch repair protein PMS2 | |
| AW555130 | |
| OTTMUSP00000031008 | |
| OTTMUSP00000031027 | |
| postmeiotic segregation increased 2 | |
| colorectal cancer, hereditary nonpolyposis, type 4 | |
| colorectal cancer, hereditary nonpolyposis, type IV | |
| DNA mismatch repair gene homologue | |
| hPMS2 | |
| LOC91271 | |
| mismatch repair endonuclease | |
| mismatch repair PMS2 | |
| PMS1 protein homolog II | |
| Pms2 | |
| PMS2 postmeiotic segregating increased 2 | |
| PMS2 postmeiotic segregating increased 2 (S. cerevisiae) | |
| PMS2 postmeiotic segregating increased II | |
| PMS2 postmeiotic segregation increased 2 | |
| PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | |
| PMS2 postmeiotic segregation increased II | |
| PMS2-C terminal -like | |
| postmeiotic segregating increased 2 | |
| postmeiotic segregating increased II | |
| postmeiotic segregation increased 2 (S. cerevisiae) | |
| postmeiotic segregation increased II | |
| DNA mismatch repair protein | |
| mismatch repair | |
| DNA mismatch repair | |
| HNPCC4s | |
| postmeiotic segregation increased (S. cerevisiae) 2 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600259 |
|---|---|
| 276300 | |
| 608623 |
| Mouse chromosome position | 5 82.0 cM |
|---|
| GO ID | 0005524 |
|---|---|
| 0003677 | |
| 0032407 | |
| 0004519 | |
| 0016787 | |
| 0030983 | |
| 0032138 | |
| 0003697 | |
| 0006298 | |
| 0005634 | |
| 0004518 | |
| 0006281 | |
| 0007126 | |
| 0006974 | |
| 0016446 | |
| 0016447 | |
| 0032389 | |
| 0042493 | |
| 0005515 | |
| 0045786 | |
| 0007049 | |
| 0003674 | |
| 0008150 | |
| 0005575 |
| Rat chromosome position | 12p11 |
|---|
| Swiss-Prot Accession | P54278 |
|---|---|
| Q5FBW8 | |
| Q7Z3Q2 | |
| B9EJ22 | |
| P54279 | |
| Q3UJP0 | |
| B2R610 | |
| Q52LH6 | |
| Q5FBW9 | |
| Q5FBX1 | |
| Q5FBX2 | |
| Q75MR2 |
| PIR ID | S47598 |
|---|
| Unigene ID | Hs.632637 |
|---|---|
| Mm.2950 | |
| Rn.102072 |
| KEGG ID | hsa:5395 |
|---|---|
| mmu:18861 | |
| rno:288479 |
| EC Number | 3.1.-.- |
|---|
| Swiss-Prot ID | PMS2_HUMAN |
|---|---|
| B9EJ22_MOUSE |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00418329 |
|---|---|
| IPI00746337 | |
| IPI00873034 | |
| IPI00874088 | |
| IPI00719852 | |
| IPI00604708 | |
| IPI00743812 | |
| IPI00902889 | |
| IPI00894382 | |
| IPI00133511 | |
| IPI00857513 | |
| IPI00857251 | |
| IPI00857794 | |
| IPI00869602 |
| Homologene ID | 450 |
|---|
| RGD ID | 1305483 |
|---|
| MGI ID | 104288 |
|---|