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    GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit [ Homo sapiens (human) ]

    Gene ID: 2562, updated on 8-Apr-2018
    Official Symbol
    GABRB3provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor beta3 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4083
    See related
    Ensembl:ENSG00000166206 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; EIEE43
    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]
    Expression
    Biased expression in brain (RPKM 22.9), gall bladder (RPKM 6.3) and 7 other tissues See more
    Orthologs
    Location:
    15q12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (26543546..26773788, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (26788693..27018935, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370739 Neighboring gene long intergenic non-protein coding RNA 929 Neighboring gene uncharacterized LOC105370740 Neighboring gene long intergenic non-protein coding RNA 2248 Neighboring gene uncharacterized LOC112268151 Neighboring gene ribosomal protein L9 pseudogene 26 Neighboring gene gamma-aminobutyric acid type A receptor alpha5 subunit

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epilepsy, childhood absence 5
    MedGen: C2677087 OMIM: 612269 GeneReviews: Not available
    Compare labs
    Epileptic encephalopathy, early infantile, 43
    MedGen: C4310712 OMIM: 617113 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-04-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-25)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog
    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • 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,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC9051

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    CONTRIBUTES_TO GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GABA-A receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GABA-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GABA-gated chloride ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GABA-gated chloride ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to histamine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-aminobutyric acid signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inhibitory postsynaptic potential 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GABA-A receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GABA-A receptor complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    gamma-aminobutyric acid receptor subunit beta-3
    Names
    GABA-alpha receptor beta-2 subunit
    GABAA receptor beta-3 subunit
    gamma-aminobutyric acid (GABA) A receptor, beta 3
    gamma-aminobutyric acid A receptor beta 3

    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_000814.5NP_000805.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, which is of the same length as isoform 2, but has a distinct N-terminus.
      Source sequence(s)
      AC009878, AC104569, M82919
      Consensus CDS
      CCDS10019.1
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000308725.5, OTTHUMP00000159558, ENST00000311550.9, OTTHUMT00000251352
      Conserved Domains (1) summary
      TIGR00860
      Location:10471
      LIC; Cation transporter family protein
    2. NM_001191320.1NP_001178249.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 3

      See identical proteins and their annotated locations for NP_001178249.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks three exons in the 5' coding region and initiates translation at an in-frame downstream start codon, compared to variant 1. Variants 3 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC009878, AK302822, M82919
      Consensus CDS
      CCDS53920.1
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000486819.1, ENST00000628124.2
      Conserved Domains (2) summary
      pfam02931
      Location:1158
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:165383
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. NM_001191321.2NP_001178250.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 4

      See identical proteins and their annotated locations for NP_001178250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks three exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK056018, AK295167, AK302822, AL120032, AW294342, BC010641, BE220174, CB162957, CD013894, CR747353, DA138788
      Consensus CDS
      CCDS53921.1
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000383049.3, OTTHUMP00000246855, ENST00000400188.7, OTTHUMT00000415130
      Conserved Domains (2) summary
      pfam02931
      Location:6172
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:179397
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    4. NM_001278631.1NP_001265560.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 3

      See identical proteins and their annotated locations for NP_001265560.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon and initiates translation at a downstream start codon, compared to variant 1. Variants 3 and 5 encode the same isoform (3), which is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC104569, AK056018, AL120032, AW294342, BC010641, BE220174, CB162957, CD013894, DA138788, DB479831
      Consensus CDS
      CCDS53920.1
      UniProtKB/Swiss-Prot
      P28472
      Related
      ENSP00000481004.1, ENST00000622697.4
      Conserved Domains (2) summary
      pfam02931
      Location:1158
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:165383
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. NM_021912.4NP_068712.1  gamma-aminobutyric acid receptor subunit beta-3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_068712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon compared to variant 1. It encodes isoform 2, which is of the same length, but has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009878, AK315311, BC010641, CD652458
      Consensus CDS
      CCDS10018.1
      UniProtKB/Swiss-Prot
      P28472
      UniProtKB/TrEMBL
      B2RCW8, X5DQY4
      Related
      ENSP00000299267.4, OTTHUMP00000159535, ENST00000299267.8, OTTHUMT00000251329
      Conserved Domains (3) summary
      TIGR00860
      Location:23471
      LIC; Cation transporter family protein
      pfam02931
      Location:41243
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250468
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RNA

    1. NR_103801.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' and 3' exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC011196, BC038837
      Related
      ENST00000556166.2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      26543546..26773788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521428.3XP_011519730.1  gamma-aminobutyric acid receptor subunit beta-3 isoform X1

      Conserved Domains (2) summary
      pfam02931
      Location:22184
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:191409
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
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