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
- Exhibits D-glucose transmembrane transporter activity. Involved in sprouting angiogenesis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder; myelomeningocele; obesity; and type 2 diabetes mellitus. Is expressed in several structures, including heart; intestine; kidney; liver; and yolk. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 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:A0A2R8Q853
|
463 | |||||
UniProtKB:F1R0Q1
|
489 | |||||
UniProtKB:A0A2R8QGQ5
|
456 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
slc2a1b-201
(1)
|
1823 nt |
Interactions and Pathways
No data available
Plasmids
No data available