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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
GABRB2, a key player in neuropsychiatric disorders and beyond.
Title: GABRB2, a key player in neuropsychiatric disorders and beyond.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Title: Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
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.
The association of GABRB2 SNPs with cognitive function in schizophrenia.
Title: The association of GABRB2 SNPs with cognitive function in schizophrenia.
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.
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.
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.
high-resolution cryo-electron microscopy structures of the human alpha1beta2gamma2 GABAA receptor, the predominant isoform in the adult brain, in complex with GABA and the benzodiazepine site antagonist flumazenil, the first-line clinical treatment for benzodiazepine overdose
Title: Structure of a human synaptic GABA(A) receptor.
we report the discovery of a de novo heterozygous missense mutation in the GABRB2 gene that encodes the b2 subunit of the GABAA receptor. Our in vitro studies indicate that this mutation causes Early myoclonic encephalopathy via disruption of GABAergic inhibition in the brain
Title: A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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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
Epileptic encephalopathy, infantile or early childhood, 2 MedGen: C4693362 OMIM: 617829 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

bac51719T (e-PCR)
- UniSTS:181505

SHGC-81786 (e-PCR)
- UniSTS:103938

bac51809S (e-PCR)
- UniSTS:181510

WIAF-1561 (e-PCR)
- UniSTS:51219

D5S1955 (e-PCR), detects polymorphism
- UniSTS:4629

RH122524 (e-PCR)
- UniSTS:138526

D5S1848 (e-PCR)
- UniSTS:23388

GABRB2_1986 (e-PCR)
- UniSTS:280686

D5S2118 (e-PCR), detects polymorphism
- UniSTS:22925

AB047609 (e-PCR)
- UniSTS:479904

G64852 (e-PCR)
- UniSTS:164770

STS-S67368 (e-PCR)
- UniSTS:69552

RH121463 (e-PCR)
- UniSTS:134591

SHGC-84076 (e-PCR)
- UniSTS:104660

RH106547 (e-PCR)
- UniSTS:209622

D5S1626E (e-PCR)
- UniSTS:151036

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 chloride transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
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	ISO Inferred from Sequence Orthology more info
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 more info	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	IEA Inferred from Electronic Annotation 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

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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)

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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

NG_047050.1 RefSeqGene

Range

6400..264689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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/Swiss-Prot

P47870

Related

ENSP00000274546.6, ENST00000353437.10

Conserved Domains (1) summary

TIGR00860
Location:9 → 472

LIC; Cation transporter family protein
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

Related

ENSP00000377531.1, ENST00000393959.6

Conserved Domains (1) summary

TIGR00860
Location:9 → 510

LIC; Cation transporter family protein
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

Conserved Domains (1) summary

TIGR00860
Location:9 → 510

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

161288436..161548404 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

161817252..162077933 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352310.1 → XP_054208285.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X2
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
XM_054352309.1 → XP_054208284.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X2
XM_054352311.1 → XP_054208286.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X2
XM_054352313.1 → XP_054208288.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X2
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
XM_054352312.1 → XP_054208287.1 gamma-aminobutyric acid receptor subunit beta-2 isoform X2
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