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 chloride:monoatomic cation symporter activity. Predicted to act upstream of or within monoatomic ion transport. Predicted to be located in 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 | Additional Resources | Length | SLC12A transporter, C-terminal | SLC12A transporter family |
|---|---|---|---|---|
| UniProtKB:A0A8M3ARB5 | InterPro | 226 |
- Genome Browsers
| 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