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Aliases for GABRB2 Gene

Aliases for GABRB2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Beta2 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 2 2
  • GABA(A) Receptor Subunit Beta-2 4
  • GABA(A) Receptor, Beta 2 2

External Ids for GABRB2 Gene

Previous GeneCards Identifiers for GABRB2 Gene

  • GC05M160838
  • GC05M161228
  • GC05M160656
  • GC05M160701
  • GC05M160653
  • GC05M160648
  • GC05M160715
  • GC05M155807

Summaries for GABRB2 Gene

Entrez Gene Summary for GABRB2 Gene

  • 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]

GeneCards Summary for GABRB2 Gene

GABRB2 (Gamma-Aminobutyric Acid Type A Receptor Beta2 Subunit) is a Protein Coding gene. Diseases associated with GABRB2 include Bipolar Disorder and Lennox-Gastaut Syndrome. Among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB3.

UniProtKB/Swiss-Prot for GABRB2 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Tocris Summary for GABRB2 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRB2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRB2 Gene

Genomics for GABRB2 Gene

Regulatory Elements for GABRB2 Gene

Enhancers for GABRB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GABRB2 on UCSC Golden Path with GeneCards custom track

Promoters for GABRB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GABRB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRB2 Gene

Chromosome:
5
Start:
161,288,419 bp from pter
End:
161,549,044 bp from pter
Size:
260,626 bases
Orientation:
Minus strand

Genomic View for GABRB2 Gene

Genes around GABRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB2 Gene

Proteins for GABRB2 Gene

  • Protein details for GABRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47870-GBRB2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-2
    Protein Accession:
    P47870
    Secondary Accessions:
    • A8K115
    • A8K1A0
    • D1LYT0
    • D1LYT1
    • Q16323
    • Q4FZB2

    Protein attributes for GABRB2 Gene

    Size:
    512 amino acids
    Molecular mass:
    59150 Da
    Quaternary structure:
    • Binds UBQLN1. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains.

    Alternative splice isoforms for GABRB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB2 Gene

Post-translational modifications for GABRB2 Gene

  • Ubiquitination at Lys 45
  • Glycosylation at Asn 32, Asn 104, and Asn 173
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRB2 Gene

No data available for DME Specific Peptides for GABRB2 Gene

Domains & Families for GABRB2 Gene

Gene Families for GABRB2 Gene

Graphical View of Domain Structure for InterPro Entry

P47870

UniProtKB/Swiss-Prot:

GBRB2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily.
genes like me logo Genes that share domains with GABRB2: view

Function for GABRB2 Gene

Molecular function for GABRB2 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 2,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Gene Ontology (GO) - Molecular Function for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity ISS --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity ISS --
GO:0005515 protein binding IEA --
GO:0016917 GABA receptor activity IEA --
genes like me logo Genes that share ontologies with GABRB2: view
genes like me logo Genes that share phenotypes with GABRB2: view

Animal Models for GABRB2 Gene

MGI Knock Outs for GABRB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRB2

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABRB2 Gene

Localization for GABRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB2 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRB2 Gene COMPARTMENTS Subcellular localization image for GABRB2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRB2: view

Pathways & Interactions for GABRB2 Gene

genes like me logo Genes that share pathways with GABRB2: view

Gene Ontology (GO) - Biological Process for GABRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8264558
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 8264558
GO:0007268 chemical synaptic transmission TAS 8264558
GO:0007605 sensory perception of sound IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRB2: view

No data available for SIGNOR curated interactions for GABRB2 Gene

Drugs & Compounds for GABRB2 Gene

(68) Drugs for GABRB2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 20

(3) Additional Compounds for GABRB2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxypropofol
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(5) Tocris Compounds for GABRB2 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist 40709-69-1
(-)-Bicuculline methochloride Water-soluble GABAA antagonist 53552-05-9
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5

(1) ApexBio Compounds for GABRB2 Gene

Compound Action Cas Number
Acamprosate calcium GABA receptor agonist and modulator of glutamatergic systems 77337-73-6
genes like me logo Genes that share compounds with GABRB2: view

Transcripts for GABRB2 Gene

mRNA/cDNA for GABRB2 Gene

(2) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRB2 Gene

Gamma-aminobutyric acid (GABA) A receptor, beta 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for GABRB2 Gene

GeneLoc Exon Structure for
GABRB2
ECgene alternative splicing isoforms for
GABRB2

Expression for GABRB2 Gene

mRNA expression in normal human tissues for GABRB2 Gene

mRNA differential expression in normal tissues according to GTEx for GABRB2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.6), Brain - Cerebellar Hemisphere (x8.5), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Cerebellum (x6.4), and Brain - Cortex (x5.4).

Protein differential expression in normal tissues from HIPED for GABRB2 Gene

This gene is overexpressed in Monocytes (35.5) and Frontal cortex (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRB2 Gene



Protein tissue co-expression partners for GABRB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GABRB2 Gene:

GABRB2

SOURCE GeneReport for Unigene cluster for GABRB2 Gene:

Hs.303527

mRNA Expression by UniProt/SwissProt for GABRB2 Gene:

P47870-GBRB2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression.
genes like me logo Genes that share expression patterns with GABRB2: view

Primer Products

Orthologs for GABRB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRB2 34
  • 92.19 (n)
  • 97.46 (a)
GABRB2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRB2 34
  • 94.66 (n)
  • 99.61 (a)
GABRB2 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrb2 34
  • 91.28 (n)
  • 99.79 (a)
Gabrb2 16
Gabrb2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRB2 34
  • 99.93 (n)
  • 100 (a)
GABRB2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrb2 34
  • 91.21 (n)
  • 99.79 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRB2 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRB2 35
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRB2 34
  • 84.11 (n)
  • 95.72 (a)
GABARB 35
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRB2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrb2 34
  • 79.32 (n)
  • 91.56 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrb2 34
  • 72.35 (n)
  • 81.95 (a)
gabrb2 35
  • 79 (a)
OneToMany
GABRB2 (1 of 2) 35
  • 87 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11340 36
  • 29 (a)
CG6927 36
  • 29 (a)
CG7589 36
  • 25 (a)
Lcch3 36
  • 48 (a)
ort 36
  • 34 (a)
Rdl 36
  • 45 (a)
Lcch3 35
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 36
  • 34 (a)
C53D6.3 36
  • 29 (a)
F11H8.2 36
  • 43 (a)
F55D10.5 36
  • 25 (a)
F58G6.4 36
  • 28 (a)
gab-1 36
  • 42 (a)
gbr-4 36
  • 31 (a)
gbr-5 36
  • 38 (a)
gbr-6 36
  • 30 (a)
glc-1 36
  • 41 (a)
glc-4 36
  • 32 (a)
K10D6.1 36
  • 29 (a)
T15B7.16 36
  • 30 (a)
T20B12.9 36
  • 25 (a)
T24D8.1 36
  • 34 (a)
T27E9.9 36
  • 28 (a)
W10G11.16 36
  • 33 (a)
Y46G5A.26 36
  • 33 (a)
Y71D11A.5 36
  • 28 (a)
Y73F8A.2 36
  • 26 (a)
gab-1 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for GABRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRB2 Gene

ENSEMBL:
Gene Tree for GABRB2 (if available)
TreeFam:
Gene Tree for GABRB2 (if available)

Paralogs for GABRB2 Gene

genes like me logo Genes that share paralogs with GABRB2: view

Variants for GABRB2 Gene

Sequence variations from dbSNP and Humsavar for GABRB2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs166171 -- 161,303,093(-) TCTGG(C/T)TGTAA intron-variant
rs168697 -- 161,291,124(+) CTAGC(A/G)GTCAT utr-variant-3-prime
rs168789 -- 161,297,821(-) atacc(A/G)cttga intron-variant
rs171677 -- 161,305,866(-) GGAAA(A/G)AAACA intron-variant
rs173766 -- 161,328,828(+) TTTTA(A/C)AATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRB2 Gene

Variant ID Type Subtype PubMed ID
esv2659732 CNV deletion 23128226
esv2667994 CNV deletion 23128226
esv2730986 CNV deletion 23290073
esv2730987 CNV deletion 23290073
esv34078 CNV loss 18971310
esv3607398 CNV gain 21293372
esv3607403 CNV loss 21293372
esv3607404 CNV gain 21293372
esv7129 CNV gain 19470904
nsv507303 OTHER sequence alteration 20534489
nsv5100 CNV deletion 18451855
nsv950437 CNV duplication 24416366

Variation tolerance for GABRB2 Gene

Residual Variation Intolerance Score: 8.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRB2 Gene

Human Gene Mutation Database (HGMD)
GABRB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB2 Gene

Disorders for GABRB2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GABRB2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • bipolar depression
lennox-gastaut syndrome
  • lennox syndrome
alcohol dependence
  • alcohol dependence, protection against
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRB2

Genetic Association Database (GAD)
GABRB2
Human Genome Epidemiology (HuGE) Navigator
GABRB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRB2
genes like me logo Genes that share disorders with GABRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRB2 Gene

Publications for GABRB2 Gene

  1. Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders. (PMID: 19763268) Zhao C. … Xue H. (PLoS ONE 2009) 3 4 46 65
  2. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PMID: 18334916) Inada T. … Arinami T. (Pharmacogenet. Genomics 2008) 3 22 46 65
  3. No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia. (PMID: 17167345) Jamra R.A. … Schumacher J. (Psychiatr. Genet. 2007) 3 22 46 65
  4. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N. … O'Donovan M.C. (Mol. Psychiatry 2010) 3 46 65
  5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 65

Products for GABRB2 Gene

Sources for GABRB2 Gene

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