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

Gene ID: 2562, updated on 19-Apr-2015
Official Symbol
GABRB3provided by HGNC
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, beta 3provided by HGNC
Primary source
HGNC: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
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]
Orthologs
See GABRB3 in MapViewer
Location:
15q12
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein L9 pseudogene 26 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, alpha 5

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

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
  • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
    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
GABA-A receptor activity IMP
Inferred from Mutant Phenotype
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
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to histamine 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
 
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
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
palate development ISS
Inferred from Sequence or Structural Similarity
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
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
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit beta-3
Names
gamma-aminobutyric acid receptor subunit beta-3
GABA-alpha receptor beta-2 subunit
GABAA receptor beta-3 subunit
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, OTTHUMP00000159558, ENST00000311550, OTTHUMT00000251352
    Conserved Domains (3) summary
    TIGR00860
    Location:10471
    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
  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, ENST00000628124
    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
    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, ENST00000622697
    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/TrEMBL
    B2RCW8
    UniProtKB/Swiss-Prot
    P28472
    UniProtKB/TrEMBL
    X5DQY4
    Related
    ENSP00000442408, OTTHUMP00000246783, ENST00000541819, OTTHUMT00000414986
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011521428.1XP_011519730.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    26738348..26968576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)