Gene
slc18a3b
- ID
- ZDB-GENE-040426-1410
- Name
- solute carrier family 18 member 3b
- Symbol
- slc18a3b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 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 central nervous system. Orthologous to human SLC18A3 (solute carrier family 18 member A3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 8 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:P59845
|
493 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available