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GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 [ Homo sapiens (human) ]

Gene ID: 2561, updated on 3-Oct-2020

Summary

Official Symbol
GABRB2provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit beta2provided by HGNC
Primary source
HGNC:HGNC:4082
See related
Ensembl:ENSG00000145864 MIM:600232
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
ICEE2
Summary
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 22.7), spleen (RPKM 1.3) and 1 other tissue See more
Orthologs

Genomic context

See GABRB2 in Genome Data Viewer
Location:
5q34
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (161288436..161548404, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (160715426..160975130, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2159 Neighboring gene uncharacterized LOC105377693 Neighboring gene uncharacterized LOC105377694 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha6 Neighboring gene glutaredoxin pseudogene 3

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119386, MGC119388, MGC119389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
inhibitory extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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 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 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
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 
synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
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
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
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
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit beta-2
Names
GABA(A) receptor subunit beta-2
gamma-aminobutyric acid A receptor beta 2
gamma-aminobutyric acid type A receptor beta2 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_047050.1 RefSeqGene

    Range
    6400..264689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000813.3NP_000804.1  gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_000804.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks 114 bp within the coding region, as compared to variant 1, resulting in an isoform (2) which is 38 aa shorter.
    Source sequence(s)
    AC022120, AC091989, S67368
    Consensus CDS
    CCDS4354.1
    UniProtKB/Swiss-Prot
    P47870
    Related
    ENSP00000274546.6, ENST00000353437.10
    Conserved Domains (1) summary
    TIGR00860
    Location:9472
    LIC; Cation transporter family protein
  2. NM_001371727.1NP_001358656.1  gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008712, AC022120, AC091882, AC091989
    Related
    ENSP00000377531.1, ENST00000393959.6
    Conserved Domains (1) summary
    TIGR00860
    Location:9510
    LIC; Cation transporter family protein
  3. NM_021911.3NP_068711.1  gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_068711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full length isoform.
    Source sequence(s)
    AC022120, AC091989, S77553
    Consensus CDS
    CCDS4355.1
    UniProtKB/Swiss-Prot
    P47870
    Conserved Domains (1) summary
    TIGR00860
    Location:9510
    LIC; Cation transporter family protein

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    161288436..161548404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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