Gene
slc38a8b
- ID
- ZDB-GENE-121005-6
- Name
- solute carrier family 38 member 8b
- Symbol
- slc38a8b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in foveal hypoplasia 2. Orthologous to human SLC38A8 (solute carrier family 38 member 8).
- 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 |
|---|---|---|---|
| foveal hypoplasia 2 | Alliance | Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis | 609218 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR013057 | Amino acid transporter, transmembrane domain |
Domain Details Per Protein
| Protein | Additional Resources | Length | Amino acid transporter, transmembrane domain |
|---|---|---|---|
| UniProtKB:A0A8M9PPQ5 | InterPro | 444 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc38a8b-201
(1)
|
Ensembl | 1,876 nt | ||
| mRNA |
slc38a8b-202
(1)
|
Ensembl | 1,932 nt |
Interactions and Pathways
No data available
Plasmids
No data available