Gene
slc12a5a
- ID
- ZDB-GENE-120927-3
- Name
- solute carrier family 12 member 5a
- Symbol
- slc12a5a Nomenclature History
- Previous Names
-
- kcc2a (1)
- si:ch211-59d13.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable potassium:chloride symporter activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Predicted to act upstream of or within potassium ion transport and transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Orthologous to human SLC12A5 (solute carrier family 12 member 5).
- 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 34 | Alliance | Developmental and epileptic encephalopathy 34 | 616645 |
| {Epilepsy, idiopathic generalized, susceptibility to, 14} | 616685 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a5a-201
(1)
|
Ensembl | 3,863 nt |
Interactions and Pathways
No data available
Plasmids
No data available