Gene
pms2
- ID
- ZDB-GENE-030131-686
- Name
- PMS1 homolog 2, mismatch repair system component
- Symbol
- pms2 Nomenclature History
- Previous Names
-
- wu:fb39g07
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Predicted to be involved in mismatch repair. Predicted to act upstream of or within cellular response to DNA damage stimulus. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; hereditary nonpolyposis colorectal cancer type 4; mismatch repair cancer syndrome; ovarian cancer; and urinary bladder cancer. Orthologous to several human genes including PMS2 (PMS1 homolog 2, mismatch repair system component).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary nonpolyposis colorectal cancer type 4 | Alliance | Lynch syndrome 4 | 614337 |
| Mismatch repair cancer syndrome 4 | 619101 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR014762 | DNA mismatch repair, conserved site |
| Domain | IPR013507 | DNA mismatch repair protein, S5 domain 2-like |
| Domain | IPR014790 | MutL, C-terminal, dimerisation |
| Family | IPR002099 | DNA mismatch repair protein MutL/Mlh/PMS |
| Family | IPR038973 | DNA mismatch repair protein MutL/Mlh/Pms-like |
| Homologous_superfamily | IPR014721 | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
| Homologous_superfamily | IPR020568 | Ribosomal protein uS5 domain 2-type superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
| Homologous_superfamily | IPR037198 | MutL, C-terminal domain superfamily |
| Homologous_superfamily | IPR042120 | MutL, C-terminal domain, dimerisation subdomain |
| Homologous_superfamily | IPR042121 | MutL, C-terminal domain, regulatory subdomain |
Domain Details Per Protein
| Protein | Length | DNA mismatch repair, conserved site | DNA mismatch repair protein MutL/Mlh/PMS | DNA mismatch repair protein MutL/Mlh/Pms-like | DNA mismatch repair protein, S5 domain 2-like | Histidine kinase/HSP90-like ATPase superfamily | MutL, C-terminal, dimerisation | MutL, C-terminal domain, dimerisation subdomain | MutL, C-terminal domain, regulatory subdomain | MutL, C-terminal domain superfamily | Ribosomal protein uS5 domain 2-type superfamily | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F558
|
851 | |||||||||||
|
UniProtKB:A0A8N7T7Z7
|
852 |
Interactions and Pathways
No data available
Plasmids
No data available