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Aliases for GABRB2 Gene

Aliases for GABRB2 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 2 2 3
  • GABA(A) Receptor Subunit Beta-2 4
  • GABA(A) Receptor 2
  • 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 (GABA) A Receptor, Beta 2) is a Protein Coding gene. Diseases associated with GABRB2 include childhood disintegrative disease and childhood electroclinical syndrome. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR1.

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, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GABRB2 Gene at MOPED

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

Antibody Products

  • R&D Systems Antibodies for GABRB2 (GABA-A R beta 2)

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:0005230 contributes_to extracellular ligand-gated ion channel activity IBA --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity ISS --
GO:0005515 protein binding --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 2
nucleus 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 --
GO:0016021 integral component of membrane --
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:0006811 ion transport --
GO:0007165 signal transduction --
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 8264558
GO:0007268 synaptic transmission 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

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

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 17

(5) Additional Compounds for GABRB2 Gene - From: Tocris and 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
gaba
56-12-2
TACA
38090-53-8
genes like me logo Genes that share compounds with GABRB2: view

Transcripts for GABRB2 Gene

mRNA/cDNA for GABRB2 Gene

Unigene Clusters for GABRB2 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB2

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



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

Protein tissue co-expression partners for GABRB2 Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 92.19 (n)
  • 97.46 (a)
GABRB2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRB2 35
  • 94.66 (n)
  • 99.61 (a)
GABRB2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrb2 35
  • 91.28 (n)
  • 99.79 (a)
Gabrb2 16
Gabrb2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRB2 35
  • 99.93 (n)
  • 100 (a)
GABRB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrb2 35
  • 91.21 (n)
  • 99.79 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRB2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRB2 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRB2 35
  • 84.11 (n)
  • 95.72 (a)
GABARB 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRB2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrb2 35
  • 79.32 (n)
  • 91.56 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrb2 35
  • 72.35 (n)
  • 81.95 (a)
gabrb2 36
  • 79 (a)
OneToMany
GABRB2 (1 of 2) 36
  • 87 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 29 (a)
CG6927 37
  • 29 (a)
CG7589 37
  • 25 (a)
Lcch3 37
  • 48 (a)
ort 37
  • 34 (a)
Rdl 37
  • 45 (a)
Lcch3 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 37
  • 34 (a)
C53D6.3 37
  • 29 (a)
F11H8.2 37
  • 43 (a)
F55D10.5 37
  • 25 (a)
F58G6.4 37
  • 28 (a)
gab-1 37
  • 42 (a)
gbr-4 37
  • 31 (a)
gbr-5 37
  • 38 (a)
gbr-6 37
  • 30 (a)
glc-1 37
  • 41 (a)
glc-4 37
  • 32 (a)
K10D6.1 37
  • 29 (a)
T15B7.16 37
  • 30 (a)
T20B12.9 37
  • 25 (a)
T24D8.1 37
  • 34 (a)
T27E9.9 37
  • 28 (a)
W10G11.16 37
  • 33 (a)
Y46G5A.26 37
  • 33 (a)
Y71D11A.5 37
  • 28 (a)
Y73F8A.2 37
  • 26 (a)
gab-1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for GABRB2:
  • 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

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

Variant ID Type Subtype PubMed ID
nsv883074 CNV Loss 21882294
nsv5100 CNV Loss 18451855
nsv507303 CNV Insertion 20534489
esv2659732 CNV Deletion 23128226
esv2730986 CNV Deletion 23290073
esv2667994 CNV Deletion 23128226
esv2730987 CNV Deletion 23290073
esv34078 CNV Loss 18971310
esv7129 CNV Gain 19470904

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

HapMap Linkage Disequilibrium report
GABRB2
Human Gene Mutation Database (HGMD)
GABRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for GABRB2 Gene

Disorders for GABRB2 Gene

MalaCards: The human disease database

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

- elite association

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. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  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) 23 67
  3. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  4. Estimating the efficiency of benzodiazepines on GABA(A) receptors comprising gamma1 or gamma2 subunits. (PMID: 18604239) Baburin I. … Hering S. (Br. J. Pharmacol. 2008) 25 26
  5. 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) 23 67

Products for GABRB2 Gene

Sources for GABRB2 Gene

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