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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Gamma-aminobutyric acid type A receptor subunit beta3
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
15
Cytoband
q12
Chromosome location (bp)
26543552 - 26939539
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain 1,2,3,4,5. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel 6. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity 7. The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine 8. Plays an important role in somatosensation and in the production of antinociception (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Chloride
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
X5DQY4 [Target identity:100%; Query identity:100%] Gamma-aminobutyric acid A receptor beta 3 isoform A
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Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:0097060[synaptic membrane] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]
Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004888[transmembrane signaling receptor activity] GO:0004890[GABA-A receptor activity] GO:0005216[ion channel activity] GO:0005230[extracellular ligand-gated ion channel activity] GO:0005231[excitatory extracellular ligand-gated ion channel activity] GO:0005254[chloride channel activity] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006821[chloride transport] GO:0007165[signal transduction] GO:0007214[gamma-aminobutyric acid signaling pathway] GO:0007267[cell-cell signaling] GO:0007268[chemical synaptic transmission] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0022851[GABA-gated chloride ion channel activity] GO:0030594[neurotransmitter receptor activity] GO:0030659[cytoplasmic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0034220[ion transmembrane transport] GO:0034707[chloride channel complex] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0050877[nervous system process] GO:0051932[synaptic transmission, GABAergic] GO:0060021[roof of mouth development] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0071420[cellular response to histamine] GO:1902476[chloride transmembrane transport] GO:1902711[GABA-A receptor complex] GO:1904315[transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential] GO:1904862[inhibitory synapse assembly]