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

Gene ID: 2562, updated on 22-Aug-2020

Summary

Official Symbol
GABRB3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit beta3provided by HGNC
Primary source
HGNC:HGNC:4083
See related
Ensembl:ENSG00000166206 MIM:137192
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

Genomic context

See GABRB3 in Genome Data Viewer
Location:
15q12
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (26543552..26773763, 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 subunit alpha5

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
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
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
inhibitory synapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
GABA-ergic synapse 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
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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
gamma-aminobutyric acid type A receptor beta3 subunit

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
    5018..235229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000814.6NP_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, ENST00000311550.10
    Conserved Domains (1) summary
    TIGR00860
    Location:10471
    LIC; Cation transporter family protein
  2. NM_001191320.2NP_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_001191321.3NP_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, BC010641, BE220174, CB162957, CD013894, DA138788
    Consensus CDS
    CCDS53921.1
    UniProtKB/Swiss-Prot
    P28472
    Related
    ENSP00000383049.3, ENST00000400188.7
    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_001278631.2NP_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)
    AK056018, AL120032, 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_021912.5NP_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, ENST00000299267.8
    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_103801.2 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    26543552..26773763 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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