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Aliases for GABRB3 Gene

Aliases for GABRB3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 2 3 5
  • 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
  • ECA5 3

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 Type A Receptor Beta3 Subunit) is a Protein Coding gene. Diseases associated with GABRB3 include epilepsy, childhood absence 5 and childhood absence epilepsy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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 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 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 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

Genomic Location for GABRB3 Gene

Chromosome:
15
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

Genes around GABRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 33, Asn 105, and Asn 174
  • 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 & Families for GABRB3 Gene

Gene Families for GABRB3 Gene

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 :
  • 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.
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
genes like me logo Genes that share ontologies with GABRB3: view
genes like me logo Genes that share phenotypes with GABRB3: view

Human Phenotype Ontology for GABRB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRB3 Gene

MGI Knock Outs for GABRB3:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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:0045202 synapse IEA --
genes like me logo Genes that share ontologies with GABRB3: view

Pathways & Interactions for GABRB3 Gene

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

Gene Ontology (GO) - Biological Process for GABRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 1664410
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 GABRB3: view

No data available for SIGNOR curated interactions for GABRB3 Gene

Drugs & Compounds for GABRB3 Gene

(65) Drugs for GABRB3 Gene - From: ApexBio, 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 19

(7) Additional Compounds for GABRB3 Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
4-Hydroxypropofol
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Isoguvacine hydrochloride
68547-97-7

(5) Tocris Compounds for GABRB3 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

(3) ApexBio Compounds for GABRB3 Gene

Compound Action Cas Number
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
ARN-509 Androgen receptor inhibitor 956104-40-8
Bemegride 64-65-3
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:

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) (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.1), and Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for GABRB3 Gene

This gene is overexpressed in Frontal cortex (27.8), Fetal Brain (27.2), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GABRB3: view

Protein tissue co-expression partners for GABRB3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GABRB3 35
  • 99.58 (n)
  • 99.79 (a)
GABRB3 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrb3 35
  • 91.61 (n)
  • 97.04 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRB3 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRB3 36
  • 90 (a)
OneToOne
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
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 26 (a)
CG6927 37
  • 28 (a)
CG7589 37
  • 26 (a)
CG8916 37
  • 39 (a)
Lcch3 37
  • 49 (a)
ort 37
  • 36 (a)
Rdl 37
  • 47 (a)
Lcch3 35
  • 54.21 (n)
  • 50.76 (a)
Lcch3 36
  • 46 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000038 35
  • 56.24 (n)
  • 53.88 (a)
worm
(Caenorhabditis elegans)
Secernentea C53D6.3 37
  • 29 (a)
F09G2.5 37
  • 26 (a)
F11H8.2 37
  • 35 (a)
F55D10.5 37
  • 25 (a)
F58G6.4 37
  • 27 (a)
gab-1 37
  • 43 (a)
gbr-4 37
  • 31 (a)
gbr-5 37
  • 33 (a)
gbr-6 37
  • 30 (a)
glc-1 37
  • 37 (a)
glc-4 37
  • 37 (a)
T15B7.16 37
  • 31 (a)
T20B12.9 37
  • 24 (a)
T24D8.1 37
  • 35 (a)
T27E9.9 37
  • 28 (a)
W10G11.16 37
  • 34 (a)
Y46G5A.26 37
  • 35 (a)
Y71D11A.5 37
  • 29 (a)
Y73F8A.2 37
  • 26 (a)
gab-1 35
  • 52.59 (n)
  • 50.58 (a)
gab-1 36
  • 38 (a)
OneToMany
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
VAR_047957 Epilepsy, childhood absence 5 (ECA5)
rs17850679 - 26,583,358(+) AGTTC(A/T)GCTCG reference, missense
VAR_047959 -
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

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

Variation tolerance for GABRB3 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.12; 87.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRB3 Gene

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

Disorders for GABRB3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for GABRB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, childhood absence 5
  • epilepsy, childhood absence, susceptibility to, 5
childhood absence epilepsy
  • absence seizure
angelman syndrome
  • as
prader-willi syndrome
  • prader willi syndrome
childhood disintegrative disease
  • disintegrative psychosis nos
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for GABRB3

Genetic Association Database (GAD)
GABRB3
Human Genome Epidemiology (HuGE) Navigator
GABRB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRB3
genes like me logo Genes that share disorders with GABRB3: view

No data available for Genatlas for GABRB3 Gene

Publications for GABRB3 Gene

  1. Association of the GABRB3 gene with nonsyndromic oral clefts. (PMID: 18452349) Inoue H. … Suzuki Y. (Cleft Palate Craniofac. J. 2008) 3 23 48 67
  2. Mutations in GABAA receptor subunits associated with genetic epilepsies. (PMID: 20308251) Macdonald R.L. … Gallagher M.J. (J. Physiol. (Lond.) 2010) 3 23
  3. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  4. Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features. (PMID: 19268543) Bergen S.E. … Kendler K.S. (Schizophr. Res. 2009) 3 23
  5. Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. (PMID: 19430570) Yoo H.K. … Cho S.C. (Yonsei Med. J. 2009) 3 23

Products for GABRB3 Gene

Sources for GABRB3 Gene

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