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Aliases for GABRQ Gene

Aliases for GABRQ Gene

  • Gamma-Aminobutyric Acid Type A Receptor Theta Subunit 2 3 5
  • 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, 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. [provided by RefSeq, Jul 2017]

GeneCards Summary for GABRQ Gene

GABRQ (Gamma-Aminobutyric Acid Type A Receptor Theta Subunit) is a Protein Coding gene. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. Gene Ontology (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 GABRB1.

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

Additional gene information for GABRQ Gene

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

Genomics for GABRQ Gene

GeneHancer (GH) Regulatory Elements for GABRQ Gene

Promoters and enhancers for GABRQ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI152637 Enhancer 0.7 ENCODE 550.8 -0.1 -73 0.2 FEZF1 ZIC2 CCNT2 CTBP1 POLR2A VEZF1 EZH2 SP3 NRF1 SP2 GABRQ LOC105373370 KRT8P8 GC0XM152591
GH0XI152906 Enhancer 1.1 FANTOM5 Ensembl ENCODE 1.5 +269.3 269339 1.6 ZBTB21 ZIC2 ZNF335 ZFHX2 GLIS2 EGR1 PATZ1 FOS ZNF600 CREM ENSG00000234200 ZNF185 GABRQ LOC105373372 GC0XM152591
GH0XI152643 Enhancer 0.5 ENCODE 0.8 +4.2 4240 0.2 CTCF ZNF654 REST EBF1 RAD21 GABRQ LOC100420250 LOC105373370 GC0XM152591
GH0XI152641 Enhancer 0.4 ENCODE 0.8 +3.5 3501 0.8 SP1 POLR2A POU5F1 MAGEA6 GABRQ LOC100420250 LOC105373370 GC0XM152591
GH0XI152642 Enhancer 0.4 ENCODE 0.8 +4.0 3980 0.2 CTCF POLR2A RAD21 GABRQ LOC100420250 LOC105373370 GC0XM152591
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABRQ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRQ gene promoter:

Genomic Locations for GABRQ Gene

Genomic Locations for GABRQ Gene
chrX:152,637,895-152,659,510
(GRCh38/hg38)
Size:
21,616 bases
Orientation:
Plus strand
chrX:151,806,637-151,825,999
(GRCh37/hg19)

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

Post-translational modifications for GABRQ Gene

Other Protein References for GABRQ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRQ Gene

Domains & Families for GABRQ Gene

Gene Families for GABRQ Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

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:0004888 transmembrane signaling receptor activity TAS 10449790
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
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:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRQ gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1
lysosome 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 IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRQ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRQ Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0007165 signal transduction TAS 10449790
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, potentiator, binder 2
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5
Clobazam Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 22
Clonazepam Approved, Illicit Pharma Target, positive allosteric modulator, agonist 34
Clorazepate Approved, Illicit Pharma Target, positive allosteric modulator, agonist 0

(2) Additional Compounds for GABRQ Gene - From: 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

(4) Tocris Compounds for GABRQ Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
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 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of GABRQ Gene:

GABRQ

SOURCE GeneReport for Unigene cluster for GABRQ Gene:

Hs.283081
genes like me logo Genes that share expression patterns with GABRQ: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.63 (n)
rat
(Rattus norvegicus)
Mammalia Gabrq 33
  • 82.69 (n)
mouse
(Mus musculus)
Mammalia Gabrq 33 16
  • 82.08 (n)
dog
(Canis familiaris)
Mammalia GABRQ 33
  • 80.42 (n)
cow
(Bos Taurus)
Mammalia GABRQ 33
  • 79 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rdl 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea gbr-4 35
  • 32 (a)
T20B12.9 35
  • 32 (a)
K10D6.1 35
  • 30 (a)
gbr-6 35
  • 29 (a)
T15B7.16 35
  • 29 (a)
F58G6.4 35
  • 28 (a)
Species where no ortholog for GABRQ was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000688831 -- 152,641,362(+) G/A intron_variant
rs1001550154 -- 152,659,346(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001769566 -- 152,659,781(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001811277 -- 152,641,742(+) G/A intron_variant
rs1002114175 -- 152,650,800(+) A/T intron_variant

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)

Additional Variant Information for GABRQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Additional Disease Information for GABRQ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GABRQ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 LR (BMC medical genetics 2008) 3 22 44 58
  2. GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. (PMID: 10804200) Sinkkonen ST … Korpi ER (The Journal of neuroscience : the official journal of the Society for Neuroscience 2000) 2 3 4 58
  3. theta, a novel gamma-aminobutyric acid type A receptor subunit. (PMID: 10449790) Bonnert TP … Whiting PJ (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  4. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 44 58
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58

Products for GABRQ Gene

Sources for GABRQ Gene

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