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GABRQ gamma-aminobutyric acid type A receptor subunit theta [ Homo sapiens (human) ]

Gene ID: 55879, updated on 11-Apr-2024

Summary

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Official Symbol
GABRQprovided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit thetaprovided by HGNC
Primary source
HGNC:HGNC:14454
See related
Ensembl:ENSG00000268089 MIM:300349; AllianceGenome:HGNC:14454
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THETA
Summary
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]
Expression
Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.9) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152637895..152658965)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150904491..150933803)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151806349..151826007)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha3 Neighboring gene microRNA 105-2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:151599729-151600928 Neighboring gene keratin 8 pseudogene 8 Neighboring gene MAGEA3 divergent transcript Neighboring gene MAGE family member A4 pseudogene Neighboring gene MAGE family member A3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. Gami-Patel P, et al. Neuropathol Appl Neurobiol, 2022 Jun. PMID 35152451, Free PMC Article
  2. A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands. Saha S, et al. Sci Rep, 2021 Mar 26. PMID 33772085, Free PMC Article
  3. Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. Piton A, et al. Eur J Hum Genet, 2013 Jul. PMID 23169495, Free PMC Article
  4. GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit. Li YH, et al. World J Gastroenterol, 2012 Jun 7. PMID 22690081, Free PMC Article
  5. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. Fernandez F, et al. BMC Med Genet, 2008 Dec 16. PMID 19087248, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons.
    Title: The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons.
  2. A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.
    Title: A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.
  3. The intracellular domain of GABRQ disrupts GABRB3 homomeric plasma membrane expression.
    Title: Anterograde trafficking signals in GABA(A) subunits are required for functional expression.
  4. data from the present study suggest a possible role of GABRQ rs3810651 single nucleotide polymorphism in the modification of the age at onset of migraine in the Caucasian Spanish people
    Title: Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.
  5. We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3.this is the first report of ASD patients with truncating mutations in GABA receptors genes.
    Title: Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
  6. GABRQ plays important roles in hepatocellular carcinoma development and progression
    Title: GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit.
  7. single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
    Title: Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
  8. Although GABRQ genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility
    Title: Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association study of 182 candidate genes in anorexia nervosa.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129629, MGC129630

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables neurotransmitter transmembrane transporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
gamma-aminobutyric acid receptor subunit theta
Names
GABA(A) receptor subunit theta
gamma-aminobutyric acid (GABA) A receptor, theta
gamma-aminobutyric acid type A receptor theta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015965.2 RefSeqGene

    Range
    5001..20180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018558.4 → NP_061028.3  gamma-aminobutyric acid receptor subunit theta precursor

    See identical proteins and their annotated locations for NP_061028.3

    Status: REVIEWED

    Source sequence(s)
    AC244102, AF189259
    Consensus CDS
    CCDS14707.1
    UniProtKB/Swiss-Prot
    A6NFN1, Q32MB4, Q9NZK8, Q9UN88
    Related
    ENSP00000469332.1, ENST00000598523.3
    Conserved Domains (1) summary
    cl27321
    Location:60 → 353
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    152637895..152658965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531184.4 → XP_011529486.1  gamma-aminobutyric acid receptor subunit theta isoform X1

    Conserved Domains (2) summary
    pfam02931
    Location:60 → 265
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:272 → 354
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791818.1 Reference GRCh38.p14 PATCHES

    Range
    252995..282318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333346.1 → XP_054189321.1  gamma-aminobutyric acid receptor subunit theta isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    150904491..150933803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327398.1 → XP_054183373.1  gamma-aminobutyric acid receptor subunit theta isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UN88.3 GenPept UniProtKB/Swiss-Prot:Q9UN88

Gene LinkOut

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