Version 5.4
Homo sapiens Gene: GABRD
Summary
InnateDB Gene IDBG-86091.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRD
Gene Name gamma-aminobutyric acid (GABA) A receptor, delta
Synonyms EIG10; EJM7; GEFSP5
Species Homo sapiens
Ensembl Gene ENSG00000187730
Encoded Proteins
IDBP-86093
gamma-aminobutyric acid (GABA) A receptor, delta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:2019324-2030751
Strand Forward strand
Band p36.33
Transcripts
ENST00000378585 ENSP00000367848
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004890 GABA-A receptor activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029054
View Gene Order
ENSBTAG00000008672
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt O14764
TrEMBL
UniProt Splice Variant
Entrez Gene 2563
UniGene Hs.113882
RefSeq NM_000815
HUGO HGNC:4084
OMIM 137163
CCDS CCDS36
HPRD
IMGT
EMBL AF016917 AL391845 BC033801
GenPept AAB70007 AAH33801 CAI15436
RNA Seq Atlas 2563

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca