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
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