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].

gamma-aminobutyric acid type A receptor beta3 subunitMIM:137192Ensembl:ENSG00000166206HGNC:HGNC:4083PA2849715q12

GO terms in GABRB3

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0004890GABA-A receptor activity
MFIMPGO:0004890GABA-A receptor activity
MFIBAGO:0005230extracellular ligand-gated ion channel activity
MFIDAGO:0022851GABA-gated chloride ion channel activity
MFIMPGO:0022851GABA-gated chloride ion channel activity
MFISSGO:0022851GABA-gated chloride ion channel activity
MFIPIGO:0042802identical protein binding
BPIBAGO:0007165signal transduction
BPTASGO:0007165signal transduction
BPIMPGO:0007214gamma-aminobutyric acid signaling pathway
BPIBAGO:0007268chemical synaptic transmission
BPIEAGO:0007605sensory perception of sound
BPIBAGO:0034220ion transmembrane transport
BPIBAGO:0042391regulation of membrane potential
BPIEAGO:0043524negative regulation of neuron apoptotic process
BPIBAGO:0050877nervous system process
BPISSGO:0060021roof of mouth development
BPIEAGO:0060080inhibitory postsynaptic potential
BPIEAGO:0060119inner ear receptor cell development
BPIDAGO:0071420cellular response to histamine
BPIEAGO:0090102cochlea development
BPIDAGO:1902476chloride transmembrane transport
BPIMPGO:1902476chloride transmembrane transport
BPISSGO:1902476chloride transmembrane transport
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIBAGO:0005887integral component of plasma membrane
CCIMPGO:0005887integral component of plasma membrane
CCIEAGO:0030054cell junction
CCIEAGO:0030659cytoplasmic vesicle membrane
CCIEAGO:0034707chloride channel complex
CCIBAGO:0043005neuron projection
CCIEAGO:0045211postsynaptic membrane
CCIBAGO:1902711GABA-A receptor complex
CCIDAGO:1902711GABA-A receptor complex
CCIMPGO:1902711GABA-A receptor complex
CCISSGO:1902711GABA-A receptor complex

Gene expression in normal tissue: GABRB3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in GABRB3

DatabasePathway IDPathway Des.
kegghsa04080Neuroactive ligand-receptor interaction - Homo sapiens (human)
kegghsa04723Retrograde endocannabinoid signaling - Homo sapiens (human)
kegghsa04726Serotonergic synapse - Homo sapiens (human)
kegghsa04727GABAergic synapse - Homo sapiens (human)
kegghsa05032Morphine addiction - Homo sapiens (human)
kegghsa05033Nicotine addiction - Homo sapiens (human)
wikipathwaysWP2380Brain-Derived Neurotrophic Factor (BDNF) signaling pathway
wikipathwaysWP3998Prader-Willi and Angelman Syndrome
wikipathwaysWP4159GABA receptor Signaling
reactomeR-HSA-112314Neurotransmitter receptors and postsynaptic signal transmission
reactomeR-HSA-112314Neurotransmitter receptors and postsynaptic signal transmission
reactomeR-HSA-112315Transmission across Chemical Synapses
reactomeR-HSA-112315Transmission across Chemical Synapses
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-977441GABA A receptor activation
reactomeR-HSA-977443GABA receptor activation

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GABRB3