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
- Enables guanine/thymine mispair binding activity. Acts upstream of or within maintenance of DNA repeat elements. Predicted to be part of MutSalpha complex. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; immature eye; neural tube; optic primordium; and ventral mesoderm. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal carcinoma; endometrial cancer; hereditary nonpolyposis colorectal cancer type 5; and mismatch repair cancer syndrome. 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