GABRB3
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
gamma-aminobutyric acid type A receptor beta3 subunit | MIM:137192 | Ensembl:ENSG00000166206 | HGNC:HGNC:4083 | PA28497 | 15q12 |
GO terms in GABRB3
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0004890 | GABA-A receptor activity |
MF | IMP | GO:0004890 | GABA-A receptor activity |
MF | IBA | GO:0005230 | extracellular ligand-gated ion channel activity |
MF | IDA | GO:0022851 | GABA-gated chloride ion channel activity |
MF | IMP | GO:0022851 | GABA-gated chloride ion channel activity |
MF | ISS | GO:0022851 | GABA-gated chloride ion channel activity |
MF | IPI | GO:0042802 | identical protein binding |
BP | IBA | GO:0007165 | signal transduction |
BP | TAS | GO:0007165 | signal transduction |
BP | IMP | GO:0007214 | gamma-aminobutyric acid signaling pathway |
BP | IBA | GO:0007268 | chemical synaptic transmission |
BP | IEA | GO:0007605 | sensory perception of sound |
BP | IBA | GO:0034220 | ion transmembrane transport |
BP | IBA | GO:0042391 | regulation of membrane potential |
BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
BP | IBA | GO:0050877 | nervous system process |
BP | ISS | GO:0060021 | roof of mouth development |
BP | IEA | GO:0060080 | inhibitory postsynaptic potential |
BP | IEA | GO:0060119 | inner ear receptor cell development |
BP | IEA | GO:0060384 | innervation |
BP | IDA | GO:0071420 | cellular response to histamine |
BP | IEA | GO:0090102 | cochlea development |
BP | IDA | GO:1902476 | chloride transmembrane transport |
BP | IMP | GO:1902476 | chloride transmembrane transport |
BP | ISS | GO:1902476 | chloride transmembrane transport |
CC | IDA | GO:0005886 | plasma membrane |
CC | TAS | GO:0005886 | plasma membrane |
CC | IBA | GO:0005887 | integral component of plasma membrane |
CC | IMP | GO:0005887 | integral component of plasma membrane |
CC | IEA | GO:0030054 | cell junction |
CC | IEA | GO:0030659 | cytoplasmic vesicle membrane |
CC | IEA | GO:0034707 | chloride channel complex |
CC | IBA | GO:0043005 | neuron projection |
CC | IBA | GO:0045202 | synapse |
CC | IEA | GO:0045211 | postsynaptic membrane |
CC | IBA | GO:1902711 | GABA-A receptor complex |
CC | IDA | GO:1902711 | GABA-A receptor complex |
CC | IMP | GO:1902711 | GABA-A receptor complex |
CC | ISS | GO:1902711 | GABA-A receptor complex |
Gene expression in normal tissue: GABRB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GABRB3
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
kegg | hsa05032 | Morphine addiction - Homo sapiens (human) |
kegg | hsa05033 | Nicotine addiction - Homo sapiens (human) |
wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
wikipathways | WP3998 | Prader-Willi and Angelman Syndrome |
wikipathways | WP4159 | GABA receptor Signaling |
reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
reactome | R-HSA-112315 | Transmission across Chemical Synapses |
reactome | R-HSA-112315 | Transmission across Chemical Synapses |
reactome | R-HSA-112316 | Neuronal System |
reactome | R-HSA-112316 | Neuronal System |
reactome | R-HSA-977441 | GABA A receptor activation |
reactome | R-HSA-977443 | GABA receptor activation |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in GABRB3