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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. 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. Among its related pathways are Ion channel transport and Transmission across Chemical Synapses. 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 GABRB2.

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

Enhancers for GABRQ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF152906 1.3 FANTOM5 Ensembl ENCODE 1.5 +269.3 269340 1.6 MAZ RFX1 BHLHE40 SP2 ZIC2 ATF2 ZFHX2 GLIS2 PATZ1 FOS ENSG00000234200 ZNF185 GABRQ LOC105373372
GH0XF152637 0.7 ENCODE 0.8 -0.1 -74 0.2 SP3 NRF1 SP2 FEZF1 ZIC2 ZBTB7A CCNT2 POLR2A KDM1A ZBTB26 GABRQ KRT8P8
GH0XF152643 0.6 ENCODE 0.8 +4.2 4240 0.2 CTCF ZNF654 SMC3 EBF1 REST MYC RAD21 GABRQ LOC100420250
GH0XF152641 0.5 ENCODE 0.8 +3.5 3502 0.8 SMARCA4 POLR2A TEAD4 POU5F1 MAGEA6 GABRQ LOC100420250
GH0XF152642 0.4 ENCODE 0.8 +4.0 3980 0.2 SMARCA4 POLR2A GABRQ LOC100420250
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRQ on UCSC Golden Path with GeneCards custom track

Promoters for GABRQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001919496 205 600 CCNT2 SP3 POLR2A NRF1 SP2 FEZF1 ZIC2 ZBTB7A ZBTB26

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

Post-translational modifications for GABRQ Gene

  • Glycosylation at Asn 127
  • 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 & 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:0004888 transmembrane signaling receptor activity TAS 10449790
GO:0004890 contributes_to GABA-A receptor activity IEA,IBA --
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
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

Clone 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
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

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

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

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 5
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 20
Clonazepam Approved, Illicit Pharma agonist, Target, positive allosteric modulator 31
Clorazepate Approved, Illicit Pharma agonist, Target, positive allosteric modulator 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

(5) Tocris Compounds for GABRQ Gene

Compound Action Cas Number
(-)-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
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and 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

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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 34
  • 99.63 (n)
rat
(Rattus norvegicus)
Mammalia Gabrq 34
  • 82.69 (n)
mouse
(Mus musculus)
Mammalia Gabrq 34 16
  • 82.08 (n)
dog
(Canis familiaris)
Mammalia GABRQ 34
  • 80.42 (n)
cow
(Bos Taurus)
Mammalia GABRQ 34
  • 79 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rdl 36
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea gbr-4 36
  • 32 (a)
T20B12.9 36
  • 32 (a)
K10D6.1 36
  • 30 (a)
gbr-6 36
  • 29 (a)
T15B7.16 36
  • 29 (a)
F58G6.4 36
  • 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 Sequence Context AA Info Type
rs10482208 -- 152,642,426(+) GCATA(C/T)GGGGG intron-variant
rs11094595 -- 152,655,571(+) TGTAC(A/G)ACAGT intron-variant
rs111390627 -- 152,646,111(+) GATAG(A/C)AAAAT intron-variant
rs111488411 -- 152,640,792(+) GGCTA(C/G)AGTTT intron-variant
rs111497150 -- 152,651,235(+) AGAAC(C/T)AAAGA 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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for GABRQ Gene - From: GeneCards

Disorder Aliases PubMed IDs
waisman syndrome
  • parkinsonism, early onset with mental retardation
- 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. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PMID: 19087248) Fernandez F. … Griffiths L.R. (BMC Med. Genet. 2008) 3 22 46 64
  2. 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 64
  3. 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 64
  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 M.C. (Mol. Psychiatry 2010) 3 46 64
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for GABRQ Gene

Sources for GABRQ Gene

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