Gene
slc12a5b
- ID
- ZDB-GENE-080707-1
- Name
- solute carrier family 12 member 5b
- Symbol
- slc12a5b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have potassium:chloride symporter activity. Involved in posterior lateral line neuromast development and retina development in camera-type eye. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Is expressed in nervous system. Orthologous to human SLC12A5 (solute carrier family 12 member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
| idiopathic generalized epilepsy 14 | Alliance | {Epilepsy, idiopathic generalized, susceptibility to, 14} | 616685 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Amino acid permease/ SLC12A domain | K/Cl co-transporter | SLC12A transporter, C-terminal | SLC12A transporter family |
|---|---|---|---|---|---|
|
UniProtKB:M1EVR1
|
1117 | ||||
|
UniProtKB:A0A8M3B534
|
1126 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a5b-201
(1)
|
Ensembl | 7,709 nt | ||
| mRNA |
slc12a5b-202
(1)
|
Ensembl | 3,441 nt | ||
| mRNA |
slc12a5b-203
(1)
|
Ensembl | 7,796 nt |
Interactions and Pathways
No data available
Plasmids
No data available