Gene
slc19a3b
- ID
- ZDB-GENE-050419-166
- Name
- solute carrier family 19 member 3b
- Symbol
- slc19a3b Nomenclature History
- Previous Names
-
- slc19a3
- si:dkey-223n17.4
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have thiamine transmembrane transporter activity. Predicted to be involved in thiamine transport and transmembrane transport. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| biotin-responsive basal ganglia disease | Alliance | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 607483 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | MFS transporter superfamily | Reduced folate carrier |
|---|---|---|---|
|
UniProtKB:Q1LV16
|
474 | ||
|
UniProtKB:A0A8M2B5S9
|
498 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc19a3b-201
(1)
|
Ensembl | 1,629 nt | ||
| mRNA |
slc19a3b-202
(1)
|
Ensembl | 1,425 nt |
Interactions and Pathways
No data available
Plasmids
No data available