Gene
slc18a3a
- ID
- ZDB-GENE-060929-990
- Name
- solute carrier family 18 member 3a
- Symbol
- slc18a3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have acetylcholine transmembrane transporter activity. Predicted to be involved in chemical synaptic transmission. Predicted to localize to AP-1 adaptor complex; AP-2 adaptor complex; and terminal bouton. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 21. Is expressed in brain; retina; and spinal cord. Orthologous to human SLC18A3 (solute carrier family 18 member A3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- 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 |
|---|---|---|---|
| congenital myasthenic syndrome 21 | Alliance | Myasthenic syndrome, congenital, 21, presynaptic | 617239 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Major facilitator superfamily | Major facilitator superfamily domain | Major Facilitator Superfamily Vesicular Transporter | MFS transporter superfamily | Multidrug resistance protein |
|---|---|---|---|---|---|---|
|
UniProtKB:Q08C75
|
513 | |||||
|
UniProtKB:B2GS60
|
513 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc18a3a-201
(1)
|
Ensembl | 2,406 nt |
Interactions and Pathways
No data available
Plasmids
No data available