U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 [ Homo sapiens (human) ]

Gene ID: 2559, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
GABRA6provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha6provided by HGNC
Primary source
HGNC:HGNC:4080
See related
Ensembl:ENSG00000145863 MIM:137143; AllianceGenome:HGNC:4080
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
Summary
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q34
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (161685721..161702592)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (162214591..162231464)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161112727..161129598)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377693 Neighboring gene NANOG hESC enhancer GRCh37_chr5:160535280-160535816 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:160616217-160616801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23574 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta2 Neighboring gene uncharacterized LOC105377694 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:161038283-161038784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161078661-161079446 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161139938-161140544 Neighboring gene uncharacterized LOC105377696 Neighboring gene glutaredoxin pseudogene 3 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene. Gonda X, et al. Sci Rep, 2017 Oct 10. PMID 29018204, Free PMC Article
  2. The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression. Hernandez CC, et al. J Physiol, 2011 Dec 1. PMID 21930603, Free PMC Article
  3. Prefrontal GABA(A) receptor alpha-subunit expression in normal postnatal human development and schizophrenia. Duncan CE, et al. J Psychiatr Res, 2010 Jul. PMID 20100621
  4. Craving for alcohol and food during treatment for alcohol dependence: modulation by T allele of 1519T>C GABAAalpha6. Han DH, et al. Alcohol Clin Exp Res, 2008 Sep. PMID 18616664
  5. GABRA6 gene polymorphism and an attenuated stress response. Uhart M, et al. Mol Psychiatry, 2004 Nov. PMID 15197399

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
    Title: GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
  2. stress-associated suicide risk is elevated in carriers of the GABRA6 rs3219151 T allele with several independent markers and predictors of suicidal behaviours converging to this increased risk.
    Title: A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene.
  3. TMEM132D, COMT and GABRA6 gene polymorphisms may influence susceptibility to panic disorder(PD) and major depressive disorder(MDD)in Japanese adults; these variants may increase vulnerability to PD by modulating oligodendrocytes and GABA and dopaminergic functions in related brain regions, altering neuronal processing of anxiety-related emotional signals
    Title: Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic and major depressive disorder.
  4. NOS3, GABRA6, child abuse, neighborhood crime Gene x Gene, Environment x Environment, and Gene x Environment interactions are associated with different patterns of respiratory sinus arrhythmia reactivity.
    Title: A multilevel prediction of physiological response to challenge: Interactions among child maltreatment, neighborhood crime, endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor subunit alpha-6 gene (GABRA6).
  5. The gene-gene interaction at two loci involving GABRA6 and Synapsin II revealed a significant association for development of idiopathic generalized epilepsy.
    Title: Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.
  6. genetic association study in Chinese Han population: Data suggest an SNP in GABRA6 (rs3219151) is associated with decreased predisposition to schizophrenia via alteration of miroRNA binding to target in 3-prime-untranslated region of GABRA6 mRNA.
    Title: Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets.
  7. GABRA6 mutation, R46W, was identified as a susceptibility gene that may contribute to the pathogenesis of childhood absence epilepsy and cause neuronal disinhibition and increase in seizures via a reduction of alphabetagamma and alphabetadelta receptor function and expression
    Title: The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression.
  8. Part of the interindividual differences observed for anxiety traits measured by the Harm Avoidance dimension could be explained by the GABRA6 gene variability.
    Title: The role of genetic variability in the SLC6A4, BDNF and GABRA6 genes in anxiety-related traits.
  9. significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population
    Title: Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
  10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC116903, MGC116904

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to benzodiazepine 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 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in inhibitory synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, GABAergic NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of GABA-A receptor complex ISO
Inferred from Sequence Orthology
more info
  
part_of GABA-A receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cerebellar Golgi cell to granule cell synapse IEA
Inferred from Electronic Annotation
more info
  
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in dendrite membrane IBA
Inferred from Biological aspect of Ancestor
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
  
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
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

Go to the top of the page Help
Preferred Names
gamma-aminobutyric acid receptor subunit alpha-6
Names
GABA subunit A receptor alpha 6
GABA(A) receptor subunit alpha-6
GABA(A) receptor, alpha 6
gamma-aminobutyric acid (GABA) A receptor, alpha 6
gamma-aminobutyric acid type A receptor alpha6 subunit

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_000811.3 → NP_000802.2  gamma-aminobutyric acid receptor subunit alpha-6 precursor

    See identical proteins and their annotated locations for NP_000802.2

    Status: REVIEWED

    Source sequence(s)
    AC091944, BC096241, DA068807
    Consensus CDS
    CCDS4356.1
    UniProtKB/Swiss-Prot
    A8K096, Q16445, Q4VAV2
    UniProtKB/TrEMBL
    E7EV53
    Related
    ENSP00000274545.5, ENST00000274545.10
    Conserved Domains (1) summary
    cl27321
    Location:5 → 440
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    161685721..161702592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    162214591..162231464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16445.2 GenPept UniProtKB/Swiss-Prot:Q16445

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous