Gene
slc12a6
- ID
- ZDB-GENE-160113-148
- Name
- solute carrier family 12 member 6
- Symbol
- slc12a6 Nomenclature History
- Previous Names
-
- si:cabz01090193.1
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable potassium:chloride symporter activity. Predicted to act upstream of or within cellular hypotonic salinity response and chloride transmembrane transport. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and agenesis of the corpus callosum with peripheral neuropathy. Orthologous to human SLC12A6 (solute carrier family 12 member 6).
- 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 |
|---|---|---|---|
| agenesis of the corpus callosum with peripheral neuropathy | Alliance | Agenesis of the corpus callosum with peripheral neuropathy | 218000 |
| Charcot-Marie-Tooth disease, axonal, type 2II | 620068 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | SLC12A transporter, C-terminal | SLC12A transporter family |
|---|---|---|---|
|
UniProtKB:A0A8M3ARB5
|
226 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:cabz01090193.1-201
(1)
|
Ensembl | 659 nt |
Interactions and Pathways
No data available
Plasmids
No data available