Gene
slc25a38b
- ID
- ZDB-GENE-110214-1
- Name
- solute carrier family 25 member 38b
- Symbol
- slc25a38b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have glycine transmembrane transporter activity. Involved in erythrocyte differentiation and hemoglobin biosynthetic process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in autosomal recessive pyridoxine-refractory sideroblastic anemia 2. Is expressed in blood; blood island; and posterior cardinal vein. Orthologous to human SLC25A38 (solute carrier family 25 member 38).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Fernández-Murray et al., 2016
- 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 |
|---|---|---|---|
| autosomal recessive pyridoxine-refractory sideroblastic anemia 2 | Alliance | Anemia, sideroblastic, 2, pyridoxine-refractory | 205950 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mitochondrial carrier domain superfamily | Mitochondrial carrier protein | Mitochondrial glycine transporter Hem25/SLC25A38 | Mitochondrial substrate/solute carrier |
|---|---|---|---|---|---|
|
UniProtKB:P0CAT2
|
287 | ||||
|
UniProtKB:A0A8M9Q680
|
299 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc25a38b-201
(1)
|
Ensembl | 789 nt | ||
| mRNA |
slc25a38b-202
(1)
|
Ensembl | 3,947 nt |
Interactions and Pathways
No data available
Plasmids
No data available