Gene
gabrb2b
- ID
- ZDB-GENE-111215-5
- Name
- gamma-aminobutyric acid type A receptor subunit beta2b
- Symbol
- gabrb2b Nomenclature History
- Previous Names
-
- gabrb2l
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have GABA-A receptor activity and extracellular ligand-gated ion channel activity. Predicted to be involved in ion transmembrane transport. Predicted to localize to integral component of membrane and plasma membrane. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
- Genome Resources
-
- Alliance (1)
- Gene:100332196 (1)
- 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 92 | Alliance | Developmental and epileptic encephalopathy 92 | 617829 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A0A8M2BLN4
|
191 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance