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

    Gene ID: 2559, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See GABRA6 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (161685721..161702592)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (162214591..162231464)
    RS_2024_09 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 GABRA6 antisense RNA 1 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. 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
    2. Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis. Hicks AA, et al. Genomics, 1994 Mar 15. PMID 8020978
    3. Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. Hadingham KL, et al. Mol Pharmacol, 1996 Feb. PMID 8632757
    4. Association between a variant at the GABA(A)alpha6 receptor subunit gene, abdominal obesity, and cortisol secretion. Rosmond R, et al. Ann N Y Acad Sci, 2002 Jun. PMID 12079890
    5. GABRA6 gene polymorphism and an attenuated stress response. Uhart M, et al. Mol Psychiatry, 2004 Nov. PMID 15197399

    See all (49) 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

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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

    • 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 signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 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 ISS
    Inferred from Sequence or Structural Similarity
    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 specialization membrane ISS
    Inferred from Sequence or Structural Similarity
    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

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    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
    GABAAR subunit alpha-6
    gamma-aminobutyric acid (GABA) A receptor, alpha 6
    gamma-aminobutyric acid type A receptor alpha6 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.

    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_2024_08

    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.

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