Gene
slc2a1b
- ID
- ZDB-GENE-090915-1
- Name
- solute carrier family 2 member 1b
- Symbol
- slc2a1b Nomenclature History
- Previous Names
-
- si:dkey-92f12.1
- zglut1a (2)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Enables D-glucose transmembrane transporter activity. Acts upstream of or within sprouting angiogenesis. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including heart; intestine; kidney; liver; and yolk. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder; myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| childhood onset GLUT1 deficiency syndrome 2 | Alliance | GLUT1 deficiency syndrome 2, childhood onset | 612126 |
| dystonia 9 | Alliance | Dystonia 9 | 601042 |
| idiopathic generalized epilepsy 12 | Alliance | {Epilepsy, idiopathic generalized, susceptibility to, 12} | 614847 |
| GLUT1 deficiency syndrome 1, infantile onset, severe | 606777 | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Major facilitator, sugar transporter-like | Major facilitator superfamily domain | MFS transporter superfamily | Sugar/inositol transporter | Sugar transporter, conserved site |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QGQ5
|
456 | |||||
|
UniProtKB:A0A2R8Q853
|
463 | |||||
|
UniProtKB:F1R0Q1
|
489 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
slc2a1b-201
(1)
|
1823 nt |
Interactions and Pathways
No data available
Plasmids
No data available