Gene
gabrd
- ID
- ZDB-GENE-081105-170
- Name
- gamma-aminobutyric acid type A receptor subunit delta
- Symbol
- gabrd Nomenclature History
- Previous Names
-
- si:dkeyp-87a12.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to contribute to GABA-A receptor activity. Predicted to be involved in several processes, including chemical synaptic transmission; nervous system process; and regulation of membrane potential. Predicted to localize to integral component of plasma membrane; neuron projection; and synapse. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 10. Is expressed in nervous system. Orthologous to human GABRD (gamma-aminobutyric acid type A receptor subunit delta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- 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 |
|---|---|---|---|
| idiopathic generalized epilepsy 10 | Alliance | {?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} | 613060 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
| Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
| Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
| Family | IPR006028 | Gamma-aminobutyric acid A receptor/Glycine receptor alpha |
| Family | IPR006201 | Neurotransmitter-gated ion-channel |
| Family | IPR008098 | Gamma-aminobutyric-acid A receptor delta subunit |
| Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
| Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
| Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
| Protein | Length | Gamma-aminobutyric-acid A receptor delta subunit | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8N7TER6
|
459 |
Interactions and Pathways
No data available
Plasmids
No data available