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 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 localize to several cellular components, including GABA-A receptor complex; integral component of plasma membrane; and neuron projection. Is expressed in nervous system. 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
Expression
All Expression Data
1 figure from Cocco et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gabrd Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
idiopathic generalized epilepsy 10 Alliance {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} 613060
idiopathic generalized epilepsy 10 Alliance {Epilepsy, idiopathic generalized, 10} 613060
idiopathic generalized epilepsy 10 Alliance {Epilepsy, juvenile myoclonic, susceptibility to} 613060
Associated With gabrd Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Domain Details Per Protein
Protein Length Gamma-aminobutyric-acid A receptor delta subunit Gamma-aminobutyric acid A receptor/Glycine receptor alpha 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:E9QHL0 438
UniProtKB:F1QHR2 433
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations