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

    Gene ID: 2561, updated on 2-May-2024

    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; AllianceGenome:HGNC:4082
    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
    DEE92; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GABRB2 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (161288436..161548404, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (161817252..162077933, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (160715443..160975410, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:160365148-160366347 Neighboring gene long intergenic non-protein coding RNA 2159 Neighboring gene uncharacterized LOC105377693 Neighboring gene NANOG hESC enhancer GRCh37_chr5:160535280-160535816 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:160616217-160616801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23574 Neighboring gene uncharacterized LOC105377694 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:161038283-161038784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161078661-161079446 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161139938-161140544 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    enables GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 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
     
    enables chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to histamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chloride transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner ear receptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innervation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic transmission, GABAergic NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GABA-A receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic specialization membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS4355.1
      UniProtKB/Swiss-Prot
      A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
      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
      A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
      Conserved Domains (1) summary
      TIGR00860
      Location:9510
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      161817252..162077933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352310.1XP_054208285.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    2. XM_054352307.1XP_054208282.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
    3. XM_054352309.1XP_054208284.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    4. XM_054352311.1XP_054208286.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    5. XM_054352313.1XP_054208288.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    6. XM_054352306.1XP_054208281.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
    7. XM_054352312.1XP_054208287.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    8. XM_054352308.1XP_054208283.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2