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Aliases for GABRQ Gene

Aliases for GABRQ Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Theta 2 3
  • GABA(A) Receptor Subunit Theta 3 4
  • Gamma-Aminobutyric Acid (GABA) Receptor, Theta 2
  • Gamma-Aminobutyric Acid Receptor Subunit Theta 3
  • 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 (GABA) A Receptor, Theta) is a Protein Coding gene. Diseases associated with GABRQ include waisman syndrome. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include transmembrane signaling receptor activity and extracellular ligand-gated ion channel activity.

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, 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 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

Start:
152,638,183 bp from pter
End:
152,657,534 bp from pter
Size:
19,352 bases
Orientation:
Plus strand

Genomic View for GABRQ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn127
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRQ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRQ Gene

Domains for GABRQ Gene

Gene Families for GABRQ Gene

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

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 :
  • Q9UN88
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:0004888 transmembrane signaling receptor activity TAS 10449790
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005326 neurotransmitter transporter activity TAS 10449790
genes like me logo Genes that share ontologies with GABRQ: view

Phenotypes for GABRQ Gene

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

miRNA for GABRQ Gene

miRTarBase miRNAs that target GABRQ

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for GABRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10449790
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRQ: view

Pathways for GABRQ Gene

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

Pathways by source for GABRQ Gene

Interacting Proteins for GABRQ Gene

Gene Ontology (GO) - Biological Process for GABRQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006811 ion transport --
GO:0006836 neurotransmitter transport TAS 10449790
GO:0007165 signal transduction TAS 10449790
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABRQ: view

Compounds for GABRQ Gene

(5) Tocris Compounds for GABRQ 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 GABRQ Gene

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

(14) Drugbank Compounds for GABRQ Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
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
Clobazam
  • Aedon
22316-47-8 target potentiator
Clonazepam
  • Chlonazepam
1622-61-3 target potentiator

(2) IUPHAR Ligand for GABRQ Gene

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

(1) PharmGKB related drug/compound annotations for GABRQ Gene

Drug/compound Annotation
venlafaxine CA
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:

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 (19.1), Brain - Hippocampus (6.7), Brain - Anterior cingulate cortex (BA24) (5.1), and Brain - Amygdala (4.4).

SOURCE GeneReport for Unigene cluster for GABRQ Gene Hs.283081

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

No data available for Protein expression and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GABRQ 35
  • 99.63 (n)
  • 99.21 (a)
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
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 gbr-4 37
  • 32 (a)
T20B12.9 37
  • 32 (a)
F58G6.4 37
  • 28 (a)
K10D6.1 37
  • 30 (a)
gbr-6 37
  • 29 (a)
T15B7.16 37
  • 29 (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

Selected SIMAP similar genes for GABRQ Gene using alignment to 1 proteins:

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

No data available for Paralogs for GABRQ Gene

Variants for GABRQ Gene

Sequence variations from dbSNP and Humsavar for GABRQ Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs3810649 -- 152,637,947(+) GGGCG(A/G)GCCCT upstream-variant-2KB
rs3810650 -- 152,650,860(+) TAAAC(A/G)GACGA intron-variant
rs3810651 - 152,652,814(+) GTATT(A/T)TTCCT reference, missense
rs4325058 -- 152,650,174(+) TCCCA(A/T)TCCAA intron-variant
rs4478723 -- 152,649,449(+) TCCCC(C/G)CATTC intron-variant

Relevant External Links for GABRQ Gene

HapMap Linkage Disequilibrium report
GABRQ
Locus Specific Mutation Databases (LSDB)
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

MalaCards: The human disease database. (1) Diseases for GABRQ Gene including...

Search for GABRQ Gene in MalaCards »

(1) University of Copenhagen DISEASES for GABRQ Gene

Relevant External Links for GABRQ

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

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

Publications for GABRQ Gene

  1. 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 48
  2. Theta, a novel gamma-aminobutyric acid type A receptor subunit. (PMID: 10449790) Bonnert T.P. … Whiting P.J. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4
  3. 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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N. … O'Donovan M.C. (Mol. Psychiatry 2010) 3 48

Products for GABRQ Gene

Sources for GABRQ Gene

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