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Aliases for GABRQ Gene

Aliases for GABRQ Gene

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

External Ids for GABRQ Gene

Previous GeneCards Identifiers for GABRQ Gene

  • GC0XP146146
  • GC0XP148463
  • GC0XP149554
  • GC0XP150424
  • GC0XP151477
  • GC0XP151806
  • GC0XP140659

Summaries for GABRQ Gene

Entrez Gene Summary for GABRQ 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 the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009]

GeneCards Summary for GABRQ Gene

GABRQ (Gamma-Aminobutyric Acid Type A Receptor Theta Subunit) is a Protein Coding gene. Diseases associated with GABRQ include waisman syndrome and neurologic diseases. 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 transmembrane signaling receptor activity and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GABRQ Gene

  • GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Tocris Summary for GABRQ 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 GABRQ Gene

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

Genomics for GABRQ Gene

Regulatory Elements for GABRQ Gene

Genomic Location for GABRQ Gene

Chromosome:
X
Start:
152,637,895 bp from pter
End:
152,659,510 bp from pter
Size:
21,616 bases
Orientation:
Plus strand

Genomic View for GABRQ Gene

Genes around GABRQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GABRQ Gene

Proteins for GABRQ Gene

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

    Protein Symbol:
    Q9UN88-GBRT_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit theta
    Protein Accession:
    Q9UN88
    Secondary Accessions:
    • A6NFN1
    • Q32MB4
    • Q9NZK8

    Protein attributes for GABRQ Gene

    Size:
    632 amino acids
    Molecular mass:
    72022 Da
    Quaternary structure:
    • Generally pentameric. This subunit coassembles with alpha-2, beta-1 and gamma-1.

neXtProt entry for GABRQ Gene

Proteomics data for GABRQ Gene at MOPED

Post-translational modifications for GABRQ Gene

  • Glycosylation at Asn 127
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRQ Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GABRQ Gene

Domains & Families for GABRQ Gene

Gene Families for GABRQ Gene

Suggested Antigen Peptide Sequences for GABRQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN88

UniProtKB/Swiss-Prot:

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

Function for GABRQ Gene

Molecular function for GABRQ Gene

UniProtKB/Swiss-Prot Function:
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Gene Ontology (GO) - Molecular Function for GABRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0005326 neurotransmitter transporter activity TAS 10449790
genes like me logo Genes that share ontologies with GABRQ: view
genes like me logo Genes that share phenotypes with GABRQ: view

Animal Models for GABRQ Gene

MGI Knock Outs for GABRQ:

Animal Model Products

miRNA for GABRQ Gene

miRTarBase miRNAs that target GABRQ

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for GABRQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRQ 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 GABRQ Gene COMPARTMENTS Subcellular localization image for GABRQ gene
Compartment Confidence
plasma membrane 5
extracellular 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GABRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRQ: view

Pathways & Interactions for GABRQ Gene

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

Interacting Proteins for GABRQ Gene

Gene Ontology (GO) - Biological Process for GABRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRQ: view

No data available for SIGNOR curated interactions for GABRQ Gene

Drugs & Compounds for GABRQ Gene

(50) Drugs for GABRQ Gene - From: Tocris, DrugBank, PharmGKB, HMDB, IUPHAR, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19
Clonazepam Approved, Illicit Pharma agonist, Target, positive allosteric modulator 26
Clorazepate Approved, Illicit Pharma agonist, Target, positive allosteric modulator 0

(6) Additional Compounds for GABRQ Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
gaba
56-12-2
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8
genes like me logo Genes that share compounds with GABRQ: view

Transcripts for GABRQ Gene

mRNA/cDNA for GABRQ Gene

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

Unigene Clusters for GABRQ Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GABRQ Gene

GeneLoc Exon Structure for
GABRQ
ECgene alternative splicing isoforms for
GABRQ

Expression for GABRQ Gene

mRNA expression in normal human tissues for GABRQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Hypothalamus (x19.1), Brain - Hippocampus (x6.7), Brain - Anterior cingulate cortex (BA24) (x5.1), and Brain - Amygdala (x4.4).

SOURCE GeneReport for Unigene cluster for GABRQ Gene Hs.283081

genes like me logo Genes that share expression patterns with GABRQ: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GABRQ Gene

Orthologs for GABRQ Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRQ Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRQ 35
  • 79 (n)
  • 68.42 (a)
dog
(Canis familiaris)
Mammalia GABRQ 35
  • 80.42 (n)
  • 70.63 (a)
mouse
(Mus musculus)
Mammalia Gabrq 35
  • 82.08 (n)
  • 78.88 (a)
Gabrq 16
chimpanzee
(Pan troglodytes)
Mammalia GABRQ 35
  • 99.63 (n)
  • 99.21 (a)
rat
(Rattus norvegicus)
Mammalia Gabrq 35
  • 82.69 (n)
  • 78.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rdl 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G6.4 37
  • 28 (a)
gbr-4 37
  • 32 (a)
gbr-6 37
  • 29 (a)
K10D6.1 37
  • 30 (a)
T15B7.16 37
  • 29 (a)
T20B12.9 37
  • 32 (a)
Species with no ortholog for GABRQ:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for GABRQ Gene

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

Paralogs for GABRQ Gene

(19) SIMAP similar genes for GABRQ Gene using alignment to 1 proteins:

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

Variants for GABRQ Gene

Sequence variations from dbSNP and Humsavar for GABRQ Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_030761 -
VAR_030762 -

Variation tolerance for GABRQ Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRQ Gene

HapMap Linkage Disequilibrium report
GABRQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GABRQ Gene

Disorders for GABRQ Gene

MalaCards: The human disease database

(3) MalaCards diseases for GABRQ Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
waisman syndrome
  • parkinsonism, early onset with mental retardation
neurologic diseases
  • nervous system disorder
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards
Search GABRQ in MalaCards View complete list of genes associated with diseases

Relevant External Links for GABRQ

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

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

Publications for GABRQ Gene

  1. GABAA receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. (PMID: 10804200) Sinkkonen S.T. … Korpi E.R. (J. Neurosci. 2000) 2 3 4 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. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PMID: 19087248) Fernandez F. … Griffiths L.R. (BMC Med. Genet. 2008) 3 23
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. Ethanol acts directly on extrasynaptic subtypes of GABAA receptors to increase tonic inhibition. (PMID: 17591544) Santhakumar V. … Otis T.S. (Alcohol 2007) 25 26

Products for GABRQ Gene

Sources for GABRQ Gene

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