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 enable neurotransmitter receptor activity. Predicted to contribute to GABA-A receptor activity and chloride channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to act upstream of or within chloride transport and monoatomic ion transmembrane transport. Predicted to be located in postsynaptic membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in neuron projection and synapse. Is expressed in brain; brainstem; and eye. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 10. Orthologous to human GABRD (gamma-aminobutyric acid type A receptor subunit delta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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 | {Epilepsy, idiopathic generalized, 10} | 613060 |
| idiopathic generalized epilepsy 10 | Alliance | {Epilepsy, juvenile myoclonic, susceptibility to} | 613060 |
| idiopathic generalized epilepsy 10 | Alliance | {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} | 613060 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Length |
|---|---|
|
UniProtKB:A0A8N7TER6
|
459 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
gabrd-202
(1)
|
1316 nt | |
| ncRNA |
ottdart00000035168
(1)
|
624 nt |
Interactions and Pathways
No data available
Plasmids
No data available