| URN | urn:agi-llid:5395 |
|---|---|
| Total Entities | 0 |
| Connectivity | 149 |
| 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. |
| Ariadne Ontology | DNA repair |
|---|
| GO Molecular Function | MutSalpha complex binding |
|---|---|
| ATP binding | |
| DNA binding | |
| single-stranded DNA binding | |
| single base insertion or deletion binding | |
| endonuclease activity | |
| ATPase activity |
| GO Cellular Component | MutLalpha complex |
|---|---|
| mismatch repair complex | |
| nucleus |
| GO Biological Process | reciprocal meiotic recombination |
|---|---|
| meiosis | |
| ATP catabolic process | |
| nucleic acid phosphodiester bond hydrolysis | |
| DNA repair | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug |
| Pathway | Single-Strand Mismatch DNA Repair |
|---|---|
| colorectal cancer pathway | |
| colorectal cancer pathway |
| Group | DNA repair |
|---|---|
| reciprocal meiotic recombination | |
| meiosis | |
| ATP catabolic process | |
| nucleic acid phosphodiester bond hydrolysis | |
| DNA repair | |
| mismatch repair | |
| somatic recombination of immunoglobulin gene segments | |
| response to DNA damage stimulus | |
| somatic hypermutation of immunoglobulin genes | |
| response to drug | |
| MutSalpha complex binding | |
| ATP binding | |
| DNA binding | |
| single-stranded DNA binding | |
| single base insertion or deletion binding | |
| endonuclease activity | |
| ATPase activity | |
| MutLalpha complex | |
| mismatch repair 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 | |
| postmeiotic segregation increased II | |
| PMS2-C terminal -like | |
| PMS2 postmeiotic segregating increased II | |
| PMS2 postmeiotic segregation increased 2 | |
| PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | |
| PMS2 postmeiotic segregation increased II | |
| PMS2 postmeiotic segregating increased 2 (S. cerevisiae) | |
| postmeiotic segregating increased 2 | |
| postmeiotic segregating increased II | |
| postmeiotic segregation increased 2 (S. cerevisiae) | |
| PMS1 protein homolog II | |
| Pms2 | |
| postmeiotic segregation increased 2 | |
| colorectal cancer, hereditary nonpolyposis, type IV | |
| PMS2 postmeiotic segregating increased 2 | |
| colorectal cancer, hereditary nonpolyposis, type 4 | |
| DNA mismatch repair gene homologue | |
| hPMS2 | |
| mismatch repair endonuclease | |
| mismatch repair PMS2 | |
| OTTMUSP00000031008 | |
| OTTMUSP00000031027 | |
| LOC91271 | |
| 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 |
|---|---|
| 614337 | |
| 276300 | |
| 608623 |
| Unigene ID | Hs.632637 |
|---|---|
| Mm.2950 | |
| Rn.102072 |
| KEGG ID | hsa:5395 |
|---|---|
| mmu:18861 | |
| rno:288479 |
| Swiss-Prot Accession | P54278 |
|---|---|
| B9EJ22 | |
| P54279 | |
| B2R610 | |
| Q52LH6 | |
| Q5FBW9 | |
| Q5FBX1 | |
| Q5FBX2 | |
| Q75MR2 | |
| Q5FBW8 | |
| Q7Z3Q2 | |
| Q3UJP0 |
| EC Number | 3.1.-.- |
|---|
| GO ID | 0005524 |
|---|---|
| 0016887 | |
| 0003677 | |
| 0032407 | |
| 0004519 | |
| 0032138 | |
| 0003697 | |
| 0006200 | |
| 0006298 | |
| 0007131 | |
| 0042493 | |
| 0016446 | |
| 0016447 | |
| 0032389 | |
| 0032300 | |
| 0005634 | |
| 0006281 | |
| 0007126 | |
| 0006974 | |
| 0090305 | |
| 0016787 | |
| 0030983 | |
| 0004518 | |
| 0005515 | |
| 0045786 | |
| 0007049 | |
| 0003674 | |
| 0008150 | |
| 0005575 |
| PIR ID | S47598 |
|---|
| 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 |
| Mouse chromosome position | 5 82.0 cM |
|---|
| Rat chromosome position | 12p11 |
|---|
| Homologene ID | 450 |
|---|
| MGI ID | 104288 |
|---|
| RGD ID | 1305483 |
|---|
| Primary Cell Localization | Nucleus |
|---|