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Aliases for GABRB2 Gene

Aliases for GABRB2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Beta2 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 2 2 5
  • 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 Type A Receptor Beta2 Subunit) is a Protein Coding gene. Diseases associated with GABRB2 include Childhood Disintegrative Disease and Childhood Electroclinical Syndrome. Among its related pathways are Apoptosis Pathway and Transmission across Chemical Synapses. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers 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

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

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:0005254 chloride channel activity ISS --
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

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:0016021 integral component of membrane IEA --
GO:0045202 synapse IEA --
GO:0070062 extracellular exosome IDA 19056867
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 IEA,TAS 8264558
GO:0006811 ion transport IEA --
GO:0007605 sensory perception of sound IEA --
GO:0043524 negative regulation of neuron apoptotic process IEA --
GO:0055085 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

(62) Drugs for GABRB2 Gene - From: DrugBank, 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 19

(7) 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
Isoguvacine hydrochloride
68547-97-7

(5) Tocris Compounds for GABRB2 Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
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:

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

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 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

Sequence variations from dbSNP and Humsavar for GABRB2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1096 -- 161,289,578(+) TTACT(A/G)TTTGA utr-variant-3-prime
rs869647 -- 161,312,619(+) CCTCA(A/G)CTTTT intron-variant
rs869648 -- 161,312,702(+) TTTTG(C/T)GAGCA intron-variant
rs873571 -- 161,312,527(+) AAACT(A/C)TCAAA intron-variant
rs873572 -- 161,312,670(+) TATAT(A/C)ACCTA intron-variant

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

Human Gene Mutation Database (HGMD)
GABRB2

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

Disorders for GABRB2 Gene

MalaCards: The human disease database

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

- 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 48 67
  2. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  3. 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 23
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. 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

Products for GABRB2 Gene

Sources for GABRB2 Gene

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