ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium channel activity and calcium, potassium:sodium antiporter activity. Predicted to be involved in calcium ion transmembrane transport and intracellular calcium ion homeostasis. Located in cone photoreceptor outer segment. Is expressed in brain; gill; neural crest; and retina. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A5 and pigmentation disease. 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 | Additional Resources | Length | NCX, central ion-binding domain superfamily | Sodium/calcium exchanger membrane region | Sodium/potassium/calcium exchanger |
|---|---|---|---|---|---|
| UniProtKB:A0A8M3AJ61 | InterPro | 620 | |||
| UniProtKB:A0A8M2B5T1 | InterPro | 621 | |||
| UniProtKB:Q567G1 | InterPro | 569 | |||
| UniProtKB:A0AB32TAM9 | InterPro | 602 | |||
| UniProtKB:A0AB32TAP7 | InterPro | 601 | |||
| UniProtKB:A0AC58HMW8 | InterPro | 620 | |||
| UniProtKB:A0AC58HMX3 | InterPro | 601 | |||
| UniProtKB:A0AC58HMX5 | InterPro | 316 | |||
| UniProtKB:A0AC58HMY4 | InterPro | 316 |
- Genome Browsers
| 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
- Genome Browsers