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    GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 [ Homo sapiens ]

    Gene ID: 2562, updated on 12-May-2012
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    Summary

    Official Symbol
    GABRB3provided by HGNC
    Official Full Name
    gamma-aminobutyric acid (GABA) A receptor, beta 3provided by HGNC
    Primary source
    HGNC:4083
    See related
    Ensembl:ENSG00000166206; HPRD:08844; MIM:137192; Vega:OTTHUMG00000129231
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECA5; MGC9051
    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]
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    Genomic context

    Location :
    15q12
    Sequence :
    Chromosome: 15; NC_000015.9 (26788693..27018935, complement)
    See GABRB3 in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128714 Neighboring gene mitochondrial ribosomal protein S18C pseudogene 5 Neighboring gene uncharacterized LOC503519 Neighboring gene ribosomal protein L9 pseudogene 26 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, alpha 5

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue. Chiara DC, et al. Biochemistry, 2012 Jan 31. PMID 22243422.
    2. Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia. Beneyto M, et al. Cereb Cortex, 2011 May. PMID 20843900.
    3. Joint influence of small-effect genetic variants on human longevity. Yashin AI, et al. Aging (Albany NY), 2010 Sep. PMID 20834067.
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. Jugessur A, et al. PLoS One, 2010 Jul 9. PMID 20634891.
    5. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy. Lachance-Touchette P, et al. Epilepsia, 2010 Sep. PMID 20550555.

    See all (78) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Photoaffinity labeling and pepetide mapping data suggest that a homologous etomidate/general anesthetic binding site exists at the beta3-beta3 subunit interface in alpha1beta3 GABA receptor type A, specifically involving beta3-Met227.
      Title: Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue.
    2. Gaba (A) beta1 and beta3 receptor subunit mRNA levels in the dorsolateral prefrontal cortex are not altered in schizophrenia.
      Title: Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
    3. This study provides evidence of an association between a specific GABA(A) receptor defect and autism, direct evidence that this defect causes synaptic dysfunction that is autism relevant and maternal risk effect in the 15q11-q13 autism duplication region.
      Title: Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. The data provide preliminary evidence that GABRB3 gene is associated with autism spectrum disorders in Korea.
      Title: Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios.
    6. Data show that GABRB3 is significantly altered in cerebellum and significant reductions in parietal cortex in subjects with autism.
      Title: GABA(A) receptor downregulation in brains of subjects with autism.
    7. GABRB3 may contribute differently to the cleft phenotype in Iowans and in Filipinos, with a stronger effect in cases with palate involvement in Iowa, versus an effect in cases with involvement only of the lip in the Philippines.
      Title: Studies of gamma-aminobutyric acid type A receptor beta3 (GABRB3) and glutamic acid decarboxylase 67 (GAD67) with oral clefts.
    8. three distinct sets of amino acid residues in the N-terminal extracellular domain of the hbeta1 subunit, which when mutated to the homologous residue in hbeta3 allow expression as a functional homomeric receptor
      Title: Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors.
    9. gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population
      Title: Association of the GABRB3 gene with nonsyndromic oral clefts.
    10. Mutated GABRB3 could cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents.
      Title: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
    Submit: New GeneRIF Correction See all (36)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

    Epilepsy, childhood absence, susceptibility to, 5

    Insomnia

    Joint influence of small-effect genetic variants on human longevity.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P28472 P24588 AKAP5    HPRD  PubMed  
    P28472 Q9Y6D5 ARFGEF2    HPRD  PubMed  
    P28472 P63244 GNB2L1    HPRD  PubMed  
    P28472 Protein phosphatase 2A, catalytic subunit, alpha isoform PPP2CA    HPRD  PubMed  
    BioGRID:108836 BioGRID:114874 AKAP5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108836 BioGRID:111553 PRKACA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108836 BioGRID:111564 PRKCA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108836 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • GABA A receptor activation, organism-specific biosystem (from REACTOME)
      GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
      Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GABA-A receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    extracellular ligand-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    chloride transport TAS
    Traceable Author Statement
    more info
    		  
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    inner ear receptor cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    innervation IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    neuroprotection IEA
    Inferred from Electronic Annotation
    more info
    		  
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit beta-3
    Names
    gamma-aminobutyric acid receptor subunit beta-3
    GABA(A) receptor, beta 3
    GABAA receptor beta-3 subunit
    GABA(A) receptor beta-3 subunit
    GABA-alpha receptor beta-2 subunit
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012836.1 RefSeqGene

      Range
      4993..235235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000814.5 → NP_000805.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, which is of the same length as isoform 2, but with distinct N-terminus.
      Source sequence(s)
      AC009878, AC104569, M82919
      Consensus CDS
      CCDS10019.1
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000308725, OTTHUMP00000159558, ENST00000311550, OTTHUMT00000251352
      Conserved Domains (3) summary
      TIGR00860
      Location:10 – 471
      Blast Score: 1265
      LIC; Cation transporter family protein
      pfam02931
      Location:41 – 243
      Blast Score: 506
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250 – 468
      Blast Score: 481
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    2. NM_001191320.1 → NP_001178249.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' sequence and uses a downstream in-frame AUG start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009878, AK302822, M82919
      Consensus CDS
      CCDS53920.1
      UniProtKB/TrEMBL
      B7Z825
      UniProtKB/TrEMBL
      F5H3D2
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000439169, OTTHUMP00000246857, ENST00000545868, OTTHUMT00000415132
      Conserved Domains (2) summary
      pfam02931
      Location:1 – 158
      Blast Score: 377
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:165 – 383
      Blast Score: 483
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    3. NM_001191321.1 → NP_001178250.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' sequence compared to variant 1. The resulting isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009878, AK295167, BC010641
      Consensus CDS
      CCDS53921.1
      UniProtKB/TrEMBL
      B7Z2W1
      UniProtKB/TrEMBL
      H7BYV8
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000383049, OTTHUMP00000246855, ENST00000400188, OTTHUMT00000415130
      Conserved Domains (2) summary
      pfam02931
      Location:6 – 172
      Blast Score: 396
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:179 – 397
      Blast Score: 485
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    4. NM_021912.4 → NP_068712.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. It encodes isoform 2, which has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009878, AK315311, BC010641, CD652458
      Consensus CDS
      CCDS10018.1
      UniProtKB/TrEMBL
      B2RCW8
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000299267, OTTHUMP00000159535, ENST00000299267, OTTHUMT00000251329
      Conserved Domains (3) summary
      TIGR00860
      Location:23 – 471
      Blast Score: 1249
      LIC; Cation transporter family protein
      pfam02931
      Location:41 – 243
      Blast Score: 504
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250 – 468
      Blast Score: 484
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      26788693..27018935, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      4917779..5148361, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009878.9 None
    genomic AC011196.7 (3859..144137) None
    genomic AC104569.7 (22213..97605) None
    genomic CH471151.1 EAW57653.1
      EAW57654.1
      EAW57655.1
    genomic L04311.1 AAA52507.1
      AAA52508.1
    mRNA AK056018.1 None
    mRNA AK095011.1 None
    mRNA AK295167.1 BAH11997.1
    mRNA AK302822.1 BAH13811.1
    mRNA AK315311.1 BAG37715.1
    mRNA BC010641.1 AAH10641.1
    mRNA BE783170.1 None
    mRNA CD652458.1 None
    mRNA DN994054.1 None
    mRNA M82919.1 AAA52511.1
    other-genetic DQ891086.2 ABM82012.1
    other-genetic EU176555.1 ABW03356.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28472.1 GenPept UniProtKB/Swiss-Prot:P28472
    Q68CS5 GenPept UniProtKB/TrEMBL:Q68CS5
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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