Version 5.4
Homo sapiens Gene: GABRB3
Summary
InnateDB Gene IDBG-4360.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRB3
Gene Name gamma-aminobutyric acid (GABA) A receptor, beta 3
Synonyms ECA5
Species Homo sapiens
Ensembl Gene ENSG00000166206
Encoded Proteins
IDBP-4364
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-4366
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-228838
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-583644
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-585360
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-600728
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-593083
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-598081
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-592343
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-592360
gamma-aminobutyric acid (GABA) A receptor, beta 3
IDBP-808663
gamma-aminobutyric acid (GABA) A receptor, beta 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2010]
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:26543546-26939539
Strand Reverse strand
Band q12
Transcripts
ENST00000299267 ENSP00000299267
ENST00000311550 ENSP00000308725
ENST00000400188 ENSP00000383049
ENST00000541819 ENSP00000442408
ENST00000555632 ENSP00000452041
ENST00000545868 ENSP00000439169
ENST00000554556 ENSP00000451077
ENST00000557765
ENST00000555094 ENSP00000452272
ENST00000556636 ENSP00000452159
ENST00000556166 ENSP00000451430
ENST00000557641
ENST00000554722
ENST00000621499
ENST00000622697 ENSP00000481004
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [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
GO:0022851 GABA-gated chloride ion channel activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0007605 sensory perception of sound
GO:0034220 ion transmembrane transport
GO:0043523 regulation of neuron apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0048666 neuron development
GO:0055085 transmembrane transport
GO:0060021 palate development
GO:0060119 inner ear receptor cell development
GO:0060384 innervation
GO:0071420 cellular response to histamine
GO:0090102 cochlea development
GO:1901215 negative regulation of neuron death
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
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:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000033676
View Gene Order
ENSBTAG00000013422
Not yet available
Pathways
NETPATH
REACTOME
REACT_25387
Ligand-gated ion channel transport pathway
REACT_24987
GABA A receptor activation pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_13685
Neuronal System pathway
REACT_25199
GABA receptor activation pathway
REACT_267716
Orphan transporters pathway
REACT_25300
Ion channel transport pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_15370
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.302352 Hs.595088 Hs.657298 Hs.700706 Hs.727263
RefSeq NM_000814 NM_001191320 NM_001191321 NM_001278631 NM_021912
HUGO
OMIM
CCDS CCDS10018 CCDS10019 CCDS53920 CCDS53921
HPRD 08844
IMGT
EMBL
GenPept
RNA Seq Atlas

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