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 have ATPase activity. Predicted to be involved in mismatch repair. Predicted to localize to MutLalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; hereditary nonpolyposis colorectal cancer type 4; ovarian cancer; and urinary bladder cancer. Orthologous to human 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