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] See more...

Aliases for GABRA6 Gene

Aliases for GABRA6 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha6 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 6 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-6 3 4
  • GABA(A) Receptor Subunit Alpha-6 3 4
  • GABA(A) Receptor, Alpha 6 2 3
  • Gamma-Aminobutyric Acid Type A Receptor Alpha6 Subunit 3
  • GABA Subunit A Receptor Alpha 6 3
  • GABRA6 5

External Ids for GABRA6 Gene

Previous GeneCards Identifiers for GABRA6 Gene

  • GC05P161230
  • GC05P161620
  • GC05P161048
  • GC05P161093
  • GC05P161045
  • GC05P156205

Summaries for GABRA6 Gene

Entrez Gene Summary for GABRA6 Gene

  • 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]

GeneCards Summary for GABRA6 Gene

GABRA6 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha6) is a Protein Coding gene. Diseases associated with GABRA6 include Childhood Absence Epilepsy and Intraventricular Meningioma. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.

UniProtKB/Swiss-Prot Summary for GABRA6 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 GABRA6 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 GABRA6 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRA6 Gene

Genomics for GABRA6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRA6 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
GH05J161546 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 535 2.8 ZNF692 LARP7 ZSCAN4 POLR2A EZH2 NRF1 RAD21 TCF7 TCF7L2 RUNX3 GABRA6 GABRB2 lnc-GABRB2-4
GH05J161685 Promoter 0.3 EPDnew 613.4 +138.6 138639 0.1 GABRA6 ENSG00000253403 lnc-GABRA1-2 GABRB2 GABRA1
GH05J161697 Enhancer 0.5 FANTOM5 Ensembl 57.8 +150.4 150386 0.7 SIN3A GABRA6 GABRB2 GABRA1 GABRG2 hsa-miR-5095-410 GLRXP3
GH05J161406 Enhancer 0.3 ENCODE 0.1 -140.3 -140261 1 MAFF MAFK LOC105377694 RF00994-875 GABRA6 GABRB2 ATP10B
GH05J161432 Enhancer 0.3 Ensembl 0.1 -115.0 -114962 0.2 TEAD4 LOC105377694 RF00994-875 GABRA6 GABRB2 ATP10B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRA6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRA6

Top Transcription factor binding sites by QIAGEN in the GABRA6 gene promoter:
  • AML1a
  • C/EBPalpha
  • FOXD3
  • FOXL1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HSF1 (long)
  • HSF1short
  • RP58

Genomic Locations for GABRA6 Gene

Genomic Locations for GABRA6 Gene
chr5:161,547,063-161,702,593
(GRCh38/hg38)
Size:
155,531 bases
Orientation:
Plus strand
chr5:160,974,069-161,129,599
(GRCh37/hg19)
Size:
155,531 bases
Orientation:
Plus strand

Genomic View for GABRA6 Gene

Genes around GABRA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA6 Gene

Proteins for GABRA6 Gene

  • Protein details for GABRA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16445-GBRA6_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-6
    Protein Accession:
    Q16445
    Secondary Accessions:
    • A8K096
    • Q4VAV2

    Protein attributes for GABRA6 Gene

    Size:
    453 amino acids
    Molecular mass:
    51024 Da
    Quaternary structure:
    • Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

neXtProt entry for GABRA6 Gene

Post-translational modifications for GABRA6 Gene

  • Glycosylation at Asn31, Asn128, and Asn141
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRA6 Gene

No data available for DME Specific Peptides for GABRA6 Gene

Domains & Families for GABRA6 Gene

Gene Families for GABRA6 Gene

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

Protein Domains for GABRA6 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric-acid A receptor alpha subunit signature
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A receptor alpha 6 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRA6 Gene

GenScript: Design optimal peptide antigens:
  • GABA(A) receptor subunit alpha-6 (GBRA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16445

UniProtKB/Swiss-Prot:

GBRA6_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA6 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. GABRA6 sub-subfamily.
genes like me logo Genes that share domains with GABRA6: view

Function for GABRA6 Gene

Molecular function for GABRA6 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.
GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 6,subunit,component of a pentameric receptor mediating inhibitory neurotransmission,expressed in the cerebellar granule cells and the related cells of cochlear nucleus

Phenotypes From GWAS Catalog for GABRA6 Gene

Gene Ontology (GO) - Molecular Function for GABRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity IEA,IBA 21873635
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005237 inhibitory extracellular ligand-gated ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with GABRA6: view
genes like me logo Genes that share phenotypes with GABRA6: view

Animal Models for GABRA6 Gene

MGI Knock Outs for GABRA6:

Animal Model Products

CRISPR Products

miRNA for GABRA6 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABRA6 Gene

Localization for GABRA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA6 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 GABRA6 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 0

Gene Ontology (GO) - Cellular Components for GABRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
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 GABRA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRA6 Gene

Pathways & Interactions for GABRA6 Gene

genes like me logo Genes that share pathways with GABRA6: view

Pathways by source for GABRA6 Gene

1 Tocris pathway for GABRA6 Gene
2 Qiagen pathways for GABRA6 Gene
  • Akt Signaling
  • Sperm Motility

Gene Ontology (GO) - Biological Process for GABRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway IEA,IBA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with GABRA6: view

No data available for SIGNOR curated interactions for GABRA6 Gene

Drugs & Compounds for GABRA6 Gene

(118) Drugs for GABRA6 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, binder 3
Butabarbital Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 0
Butalbital Approved, Illicit Pharma Target, Target, potentiator, positive allosteric modulator, antagonist 0
Butethal Approved, Illicit Pharma Target, potentiator, antagonist 0
Chlordiazepoxide Approved, Illicit, Investigational Pharma Target, positive allosteric modulator, agonist 5

(5) Additional Compounds for GABRA6 Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Ro154513
Allosteric regulator, Inverse agonist, Full agonist
THIP
Agonist, Full agonist, Antagonist
3'-Hydroxyhexobarbital
  • 3'-Hydroxyhexobarbital, (R-(r*,s*))-isomer
  • 3'-Hydroxyhexobarbital, (r*,s*)-(+-)-isomer
  • 3'-Hydroxyhexobarbital, (S-(r*,r*))-isomer
  • 3'-Hydroxyhexobarbital, (S-(r*,s*))-isomer
  • 3'-Hydroxyhexobarbitone
427-29-2
Alpha-hydroxyalprazolam
37115-43-8

(4) Tocris Compounds for GABRA6 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

(1) ApexBio Compounds for GABRA6 Gene

Compound Action Cas Number
Acamprosate calcium GABA receptor agonist and modulator of glutamatergic systems 77337-73-6
genes like me logo Genes that share compounds with GABRA6: view

Drug Products

Transcripts for GABRA6 Gene

mRNA/cDNA for GABRA6 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRA6

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2:
SP3: -
SP4:

Relevant External Links for GABRA6 Gene

GeneLoc Exon Structure for
GABRA6

Expression for GABRA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x29.7) and Brain - Cerebellum (x22.1).

Protein differential expression in normal tissues from HIPED for GABRA6 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRA6 Gene



Protein tissue co-expression partners for GABRA6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRA6

SOURCE GeneReport for Unigene cluster for GABRA6 Gene:

Hs.90791

Evidence on tissue expression from TISSUES for GABRA6 Gene

  • Nervous system(4.9)
  • Kidney(2.1)
  • Liver(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with GABRA6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA6 Gene

Orthologs for GABRA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRA6 30 31
  • 99.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRA6 30 31
  • 92.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRA6 30 31
  • 91.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gabra6 30 17 31
  • 86.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabra6 30
  • 86.12 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRA6 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRA6 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GABRA6 30 31
  • 79.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRA6 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gabra6 30
  • 72.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii gabra6b 30 31
  • 69.22 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG8916 30 32
  • 53.11 (n)
Grd 32
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000039 30
  • 51.25 (n)
Worm
(Caenorhabditis elegans)
Secernentea lgc-37 30
  • 46.02 (n)
F11H8.2 32
  • 35 (a)
Species where no ortholog for GABRA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)

Evolution for GABRA6 Gene

ENSEMBL:
Gene Tree for GABRA6 (if available)
TreeFam:
Gene Tree for GABRA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRA6: view image

Paralogs for GABRA6 Gene

(25) SIMAP similar genes for GABRA6 Gene using alignment to 5 proteins:

  • GBRA6_HUMAN
  • E7EV53_HUMAN
  • H0YAS3_HUMAN
  • H0YBP3_HUMAN
  • H0YBS7_HUMAN
genes like me logo Genes that share paralogs with GABRA6: view

Variants for GABRA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRA6 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
644592 Uncertain Significance: Childhood absence epilepsy 161,688,978(+) G/C MISSENSE_VARIANT
707350 Likely Benign: not provided 161,692,123(+) A/C SYNONYMOUS_VARIANT
707554 Benign: Childhood absence epilepsy 161,690,332(+) G/A MISSENSE_VARIANT
715115 Benign: Childhood absence epilepsy 161,686,251(+) A/G SYNONYMOUS_VARIANT
745544 Likely Benign: not provided 161,688,942(+) C/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GABRA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRA6 Gene

Variant ID Type Subtype PubMed ID
esv34078 CNV loss 18971310
esv3607404 CNV gain 21293372
nsv600183 CNV loss 21841781

Variation tolerance for GABRA6 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.21; 69.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRA6 Gene

Human Gene Mutation Database (HGMD)
GABRA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA6 Gene

Disorders for GABRA6 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GABRA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
intraventricular meningioma
epilepsy
  • epilepsy syndrome
alcohol dependence
  • alcoholism
panic disorder
  • panic disorder 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABRA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRA6 Gene

Publications for GABRA6 Gene

  1. GABRA6 gene polymorphism and an attenuated stress response. (PMID: 15197399) Uhart M … Wand GS (Molecular psychiatry 2004) 3 23 41
  2. 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. (PMID: 8632757) Hadingham KL … Whiting PJ (Molecular pharmacology 1996) 3 4 23
  3. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PMID: 21041608) van Winkel R … Genetic Risk and Outcome of Psychosis (GROUP) Investigators (Archives of general psychiatry 2011) 3 41
  4. 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 41
  5. 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 41

Products for GABRA6 Gene

Sources for GABRA6 Gene