Gene
msh6
- ID
- ZDB-GENE-020905-3
- Name
- mutS homolog 6 (E. coli)
- Symbol
- msh6 Nomenclature History
- Previous Names
-
- cb326 (1)
- wu:fb36c12
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits guanine/thymine mispair binding activity. Predicted to contribute to MutLalpha complex binding activity; oxidized purine DNA binding activity; and single thymine insertion binding activity. Involved in maintenance of DNA repeat elements. Predicted to localize to MutSalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal carcinoma; endometrial cancer; and hereditary nonpolyposis colorectal cancer type 5. Is expressed in several structures, including central nervous system; immature eye; neural tube; optic primordium; and ventral mesoderm. Orthologous to human MSH6 (mutS homolog 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb326 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Feitsma et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| endometrial cancer | Alliance | {Endometrial cancer, familial} | 608089 |
| hereditary nonpolyposis colorectal cancer type 5 | Alliance | Lynch syndrome 5 | 614350 |
| Mismatch repair cancer syndrome 3 | 619097 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000313 | PWWP domain |
| Domain | IPR000432 | DNA mismatch repair protein MutS, C-terminal |
| Domain | IPR007695 | DNA mismatch repair protein MutS-like, N-terminal |
| Domain | IPR007696 | DNA mismatch repair protein MutS, core |
| Domain | IPR007860 | DNA mismatch repair protein MutS, connector domain |
| Domain | IPR007861 | DNA mismatch repair protein MutS, clamp |
| Family | IPR017261 | DNA mismatch repair protein MutS/MSH |
| Homologous_superfamily | IPR016151 | DNA mismatch repair protein MutS, N-terminal |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036187 | DNA mismatch repair protein MutS, core domain superfamily |
| Homologous_superfamily | IPR036678 | MutS, connector domain superfamily |
Domain Details Per Protein
| Protein | Length | DNA mismatch repair protein MutS, clamp | DNA mismatch repair protein MutS, connector domain | DNA mismatch repair protein MutS, core | DNA mismatch repair protein MutS, core domain superfamily | DNA mismatch repair protein MutS, C-terminal | DNA mismatch repair protein MutS-like, N-terminal | DNA mismatch repair protein MutS/MSH | DNA mismatch repair protein MutS, N-terminal | MutS, connector domain superfamily | P-loop containing nucleoside triphosphate hydrolase | PWWP domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q803S7
|
1369 |
Interactions and Pathways
No data available
Plasmids
No data available