Gene
slc24a4a
- ID
- ZDB-GENE-050417-291
- Name
- solute carrier family 24 member 4a
- Symbol
- slc24a4a Nomenclature History
- Previous Names
-
- zgc:112072
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have calcium channel activity and calcium, potassium:sodium antiporter activity. Predicted to be involved in calcium ion transmembrane transport and cellular calcium ion homeostasis. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A5. Is expressed in brain; neural crest; and retina. Orthologous to human SLC24A4 (solute carrier family 24 member 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112072 (11 images)
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 |
|---|---|---|---|
| amelogenesis imperfecta hypomaturation type 2A5 | Alliance | Amelogenesis imperfecta, type IIA5 | 615887 |
| [Skin/hair/eye pigmentation 6, blond/brown hair] | 210750 | ||
| [Skin/hair/eye pigmentation 6, blue/green eyes] | 210750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NCX, central ion-binding domain superfamily | Sodium/calcium exchanger membrane region | Sodium/potassium/calcium exchanger |
|---|---|---|---|---|
|
UniProtKB:A0A8M3AJ61
|
620 | |||
|
UniProtKB:A0A8M2B5T1
|
621 | |||
|
UniProtKB:Q567G1
|
569 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc24a4a-201
(1)
|
Ensembl | 2,224 nt |
Interactions and Pathways
No data available
Plasmids
No data available