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Aliases for GABRB3 Gene

Aliases for GABRB3 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 2 3
  • ECA5 3 6
  • Gamma-Aminobutyric Acid Receptor Subunit Beta-3 3
  • Gamma-Aminobutyric Acid A Receptor Beta 3 3
  • GABA-Alpha Receptor Beta-2 Subunit 3
  • GABA(A) Receptor Subunit Beta-3 4
  • GABAA Receptor Beta-3 Subunit 3
  • GABA(A) Receptor 2
  • Beta 3 2

External Ids for GABRB3 Gene

Previous GeneCards Identifiers for GABRB3 Gene

  • GC15M022994
  • GC15M019538
  • GC15M024209
  • GC15M024338
  • GC15M024342
  • GC15M026788
  • GC15M004917

Summaries for GABRB3 Gene

Entrez Gene Summary for GABRB3 Gene

  • This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for GABRB3 Gene

GABRB3 (Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3) is a Protein Coding gene. Diseases associated with GABRB3 include epilepsy, childhood absence 5 and childhood disintegrative disease. 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 GABRB3 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 GABRB3 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 (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRB3 Gene

Genomics for GABRB3 Gene

Regulatory Elements for GABRB3 Gene

Epigenetics Products

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

Genomic Location for GABRB3 Gene

Start:
26,543,546 bp from pter
End:
26,939,539 bp from pter
Size:
395,994 bases
Orientation:
Minus strand

Genomic View for GABRB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRB3 Gene

Proteins for GABRB3 Gene

  • Protein details for GABRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28472-GBRB3_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit beta-3
    Protein Accession:
    P28472
    Secondary Accessions:
    • B7Z2W1
    • B7Z825
    • F5H3D2
    • H7BYV8
    • Q14352
    • Q96FM5

    Protein attributes for GABRB3 Gene

    Size:
    473 amino acids
    Molecular mass:
    54116 Da
    Quaternary structure:
    • Binds UBQLN1 (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Can form functional homopentamers (in vitro).

    Three dimensional structures from OCA and Proteopedia for GABRB3 Gene

    Alternative splice isoforms for GABRB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRB3 Gene

Proteomics data for GABRB3 Gene at MOPED

Post-translational modifications for GABRB3 Gene

  • Glycosylation at Asn33, Asn105, and Asn174
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GABRB3 (GABA-A R beta 3)

No data available for DME Specific Peptides for GABRB3 Gene

Domains for GABRB3 Gene

Gene Families for GABRB3 Gene

HGNC:
  • GABR :GABA receptors
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GABRB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P28472

UniProtKB/Swiss-Prot:

GBRB3_HUMAN :
  • P28472
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily.
genes like me logo Genes that share domains with GABRB3: view

Function for GABRB3 Gene

Molecular function for GABRB3 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 3,subunit,component of a pentameric receptor mediating inhibitory neurotransmission putatively involved in epileptic seizures in Angelman syndrome (ANCR),unlikely to be involved in autism
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 GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IMP 22303015
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0022851 GABA-gated chloride ion channel activity ISS --
genes like me logo Genes that share ontologies with GABRB3: view
genes like me logo Genes that share phenotypes with GABRB3: view

Animal Models for GABRB3 Gene

MGI Knock Outs for GABRB3:

Animal Model Products

CRISPR Products

miRNA for GABRB3 Gene

miRTarBase miRNAs that target GABRB3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GABRB3 Gene

Localization for GABRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRB3 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 GABRB3 Gene COMPARTMENTS Subcellular localization image for GABRB3 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 22303015
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRB3: view

Pathways for GABRB3 Gene

genes like me logo Genes that share pathways with GABRB3: view

PCR Array Products

Gene Ontology (GO) - Biological Process for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1664410
GO:0006811 ion transport --
GO:0007165 signal transduction TAS 1664410
GO:0007268 synaptic transmission TAS --
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with GABRB3: view

Compounds for GABRB3 Gene

(5) Tocris Compounds for GABRB3 Gene

Compound Action Cas Number
L-655,708 Selective for alpha5-containing GABAA receptors [130477-52-0]
(-)-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]

(2) HMDB Compounds for GABRB3 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2

(27) Drugbank Compounds for GABRB3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Bromazepam
  • 7-Bromo-5-(2-pyridyl)-3H-1,4-benzodiaxepin-2(1H)-one
1812-30-2 target potentiator
Chlordiazepoxide
58-25-3 target potentiator
Cinolazepam
75696-02-5 target potentiator

(2) IUPHAR Ligand for GABRB3 Gene

Ligand Type Action Affinity Pubmed IDs
TBPS Channel blocker None
picrotoxin Channel blocker None

(1) Novoseek inferred chemical compound relationships for GABRB3 Gene

Compound -log(P) Hits PubMed IDs
gaba 74.5 25
genes like me logo Genes that share compounds with GABRB3: view

Transcripts for GABRB3 Gene

Unigene Clusters for GABRB3 Gene

Gamma-aminobutyric acid (GABA) A receptor, beta 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRB3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRB3 Gene

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

Relevant External Links for GABRB3 Gene

GeneLoc Exon Structure for
GABRB3
ECgene alternative splicing isoforms for
GABRB3

Expression for GABRB3 Gene

mRNA expression in normal human tissues for GABRB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRB3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (6.0), Brain - Anterior cingulate cortex (BA24) (5.5), Brain - Nucleus accumbens (basal ganglia) (5.1), and Brain - Cortex (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GABRB3 Gene

SOURCE GeneReport for Unigene cluster for GABRB3 Gene Hs.302352

genes like me logo Genes that share expressions with GABRB3: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRB3 Gene

Orthologs for GABRB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRB3 35
  • 99.58 (n)
  • 99.79 (a)
GABRB3 36
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRB3 35
  • 92.51 (n)
  • 97.67 (a)
GABRB3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRB3 35
  • 92.31 (n)
  • 96.45 (a)
GABRB3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrb3 35
  • 91.97 (n)
  • 97.25 (a)
Gabrb3 16
Gabrb3 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRB3 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRB3 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrb3 35
  • 91.61 (n)
  • 97.04 (a)
chicken
(Gallus gallus)
Aves GABRB3 35
  • 82.8 (n)
  • 91.97 (a)
GABRB3 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRB3 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrb3 35
  • 77.87 (n)
  • 88.09 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrb3 35
  • 74.86 (n)
  • 85.9 (a)
gabrb3 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000038 35
  • 56.24 (n)
  • 53.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta Lcch3 35
  • 54.21 (n)
  • 50.76 (a)
Lcch3 36
  • 46 (a)
OneToMany
CG7589 37
  • 26 (a)
CG11340 37
  • 26 (a)
Rdl 37
  • 47 (a)
CG8916 37
  • 39 (a)
CG6927 37
  • 28 (a)
Lcch3 37
  • 49 (a)
ort 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea gab-1 35
  • 52.59 (n)
  • 50.58 (a)
gab-1 36
  • 38 (a)
OneToMany
glc-4 37
  • 37 (a)
F09G2.5 37
  • 26 (a)
Y73F8A.2 37
  • 26 (a)
gbr-4 37
  • 31 (a)
T24D8.1 37
  • 35 (a)
glc-1 37
  • 37 (a)
F55D10.5 37
  • 25 (a)
gbr-5 37
  • 33 (a)
Y71D11A.5 37
  • 29 (a)
T20B12.9 37
  • 24 (a)
W10G11.16 37
  • 34 (a)
F58G6.4 37
  • 27 (a)
Y46G5A.26 37
  • 35 (a)
F11H8.2 37
  • 35 (a)
C53D6.3 37
  • 29 (a)
gab-1 37
  • 43 (a)
gbr-6 37
  • 30 (a)
T27E9.9 37
  • 28 (a)
T15B7.16 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for GABRB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 GABRB3 Gene

ENSEMBL:
Gene Tree for GABRB3 (if available)
TreeFam:
Gene Tree for GABRB3 (if available)

Paralogs for GABRB3 Gene

genes like me logo Genes that share paralogs with GABRB3: view

Variants for GABRB3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GABRB3 Gene

P28472-GBRB3_HUMAN
GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIM:137192]

Sequence variations from dbSNP and Humsavar for GABRB3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs20317 -- 26,773,790(-) GTCGC(C/G)GTTTG upstream-variant-2KB
rs20318 -- 26,773,650(-) GAGCC(C/T)CGCAG upstream-variant-2KB, reference, synonymous-codon
rs25407 -- 26,772,785(-) TCCCC(C/G)TCCCT intron-variant
rs25408 -- 26,772,390(-) GCCCG(C/T)CCTCC intron-variant
rs25409 other 26,773,694(-) TGCTG(C/T)CCATC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GABRB3 Gene

Variant ID Type Subtype PubMed ID
dgv144n21 CNV Gain 19592680
nsv469894 CNV Complex 16826518
esv28925 CNV Gain 19812545
esv268286 CNV Insertion 20981092
esv274626 CNV Insertion 20981092
esv2657740 CNV Deletion 23128226
esv2669363 CNV Deletion 23128226
esv2749481 CNV Deletion 23290073
esv2749482 CNV Deletion 23290073
esv2749483 CNV Deletion 23290073
esv2665879 CNV Deletion 23128226
esv1400114 CNV Insertion 17803354
esv2663146 CNV Deletion 23128226
nsv827264 CNV Gain 20364138

Relevant External Links for GABRB3 Gene

HapMap Linkage Disequilibrium report
GABRB3
Human Gene Mutation Database (HGMD)
GABRB3

Disorders for GABRB3 Gene

(1) OMIM Diseases for GABRB3 Gene (137192)

UniProtKB/Swiss-Prot

GBRB3_HUMAN
  • Epilepsy, childhood absence 5 (ECA5) [MIM:612269]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:18514161}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for GABRB3 Gene

Disease -log(P) Hits PubMed IDs
angelman syndrome 92.5 12
prader-willi syndrome 77.8 2
childhood absence epilepsy 76.1 4
autistic 65.1 6
rett syndrome 52 1

Relevant External Links for GABRB3

Genetic Association Database (GAD)
GABRB3
Human Genome Epidemiology (HuGE) Navigator
GABRB3
genes like me logo Genes that share disorders with GABRB3: view

Publications for GABRB3 Gene

  1. The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. (PMID: 1664410) Wagstaff J. … Lalande M. (Genomics 1991) 3 4 23
  2. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. (PMID: 1714232) Wagstaff J. … Lalande M. (Am. J. Hum. Genet. 1991) 3 4 23
  3. A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). (PMID: 8382702) Kirkness E.F. … Fraser C.M. (J. Biol. Chem. 1993) 3 4 23
  4. Association between a GABRB3 polymorphism and autism. (PMID: 11920158) Buxbaum J.D. … Vitale R. (Mol. Psychiatry 2002) 3 23 48
  5. Alcohol-related expectancies are associated with the D2 dopamine receptor and GABAA receptor beta3 subunit genes. (PMID: 15296817) Young R.M. … Noble E.P. (Psychiatry Res 2004) 3 23 48

Products for GABRB3 Gene

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