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

Gene ID: 2561, updated on 8-Apr-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See GABRB2 in Genome Data Viewer
Location:
5q34
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (161288436..161548404, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (161817252..162077933, complement)
RS_2024_09 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 GABRA6 antisense RNA 1 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating. Lo WY, et al. J Biol Chem, 2010 Oct 8. PMID 20639197, Free PMC Article
  2. GABRB2 plays an important role in the lymph node metastasis of papillary thyroid cancer. Jin Y, et al. Biochem Biophys Res Commun, 2017 Oct 21. PMID 28859983
  3. Human neuronal gamma-aminobutyric acid(A) receptors: coordinated subunit mRNA expression and functional correlates in individual dentate granule cells. Brooks-Kayal AR, et al. J Neurosci, 1999 Oct 1. PMID 10493732, Free PMC Article
  4. Genetic and epigenetic regulation on the transcription of GABRB2: Genotype-dependent hydroxymethylation and methylation alterations in schizophrenia. Zong L, et al. J Psychiatr Res, 2017 May. PMID 28063323
  5. GABRB2 Haplotype Association with Heroin Dependence in Chinese Population. Kim YS, et al. PLoS One, 2015. PMID 26561861, Free PMC Article

See all (117) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
    Title: Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
  2. The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAAR function.
    Title: The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABA(A)R function.
  3. Relationship between GABRB2 gene polymorphisms and schizophrenia susceptibility: a case-control study and in silico analyses.
    Title: Relationship between GABRB2 gene polymorphisms and schizophrenia susceptibility: a case-control study and in silico analyses.
  4. GABRB2, a key player in neuropsychiatric disorders and beyond.
    Title: GABRB2, a key player in neuropsychiatric disorders and beyond.
  5. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
    Title: Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
  6. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Title: Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
  7. The association of GABRB2 SNPs with cognitive function in schizophrenia.
    Title: The association of GABRB2 SNPs with cognitive function in schizophrenia.
  8. Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor.
    Title: Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.
  9. GABRB2 polymorphisms might not be associated with schizophrenia.
    Title: Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium.
  10. Study finds that optimal processing of aversive prediction errors is reduced in individuals genetically predisposed (polymorphisms in GABRB2 and ErbB4) towards decreased GABA neurotransmission.
    Title: Polymorphisms that affect GABA neurotransmission predict processing of aversive prediction errors in humans.
Submit: New GeneRIF Correction See all GeneRIFs (59)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy 92
MedGen: C4693362 OMIM: 617829 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

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 
enables GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-A receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables GABA-A receptor activity TAS
Traceable Author Statement
more info
 PubMed 
contributes_to GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to GABA-gated chloride ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 extrasynaptic signaling via GABA NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in inhibitory synapse assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inhibitory synapse assembly IEA
Inferred from Electronic Annotation
more info
  
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 monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of synaptic transmission, GABAergic NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in neuron development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in GABA-ergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in dendritic spine IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in postsynaptic membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic specialization membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
Preferred Names
gamma-aminobutyric acid receptor subunit beta-2
Names
GABA(A) receptor subunit beta-2
GABAAR subunit beta-2
gamma-aminobutyric acid A receptor beta 2
gamma-aminobutyric acid type A receptor beta2 subunit

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_000813.3 → NP_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/TrEMBL
    E7EV50
    Related
    ENSP00000274546.6, ENST00000353437.10
    Conserved Domains (1) summary
    TIGR00860
    Location:9 → 472
    LIC; Cation transporter family protein

  2. NM_001371727.1 → NP_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
    UniProtKB/TrEMBL
    E7EV50
    Related
    ENSP00000377531.1, ENST00000393959.6
    Conserved Domains (1) summary
    TIGR00860
    Location:9 → 510
    LIC; Cation transporter family protein

  3. NM_021911.3 → NP_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
    UniProtKB/TrEMBL
    E7EV50
    Conserved Domains (1) summary
    TIGR00860
    Location:9 → 510
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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_054352310.1 → XP_054208285.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    UniProtKB/TrEMBL
    E7EV50

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

    UniProtKB/Swiss-Prot
    A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
    UniProtKB/TrEMBL
    E7EV50

  3. XM_054352309.1 → XP_054208284.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    UniProtKB/TrEMBL
    E7EV50

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

    UniProtKB/TrEMBL
    E7EV50

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

    UniProtKB/TrEMBL
    E7EV50

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

    UniProtKB/Swiss-Prot
    A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
    UniProtKB/TrEMBL
    E7EV50

  7. XM_054352312.1 → XP_054208287.1  gamma-aminobutyric acid receptor subunit beta-2 isoform X2

    UniProtKB/TrEMBL
    E7EV50

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

    UniProtKB/Swiss-Prot
    A8K115, A8K1A0, D1LYT0, D1LYT1, P47870, Q16323, Q4FZB2
    UniProtKB/TrEMBL
    E7EV50
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47870.2 GenPept UniProtKB/Swiss-Prot:P47870

Gene LinkOut

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