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Aliases for GABRA6 Gene

Aliases for GABRA6 Gene

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

External Ids for GABRA6 Gene

Previous GeneCards Identifiers for GABRA6 Gene

  • GC05P161230
  • 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 Alpha6 Subunit) is a Protein Coding gene. Diseases associated with GABRA6 include Childhood Absence Epilepsy and Neurotic Disorder. Among its related pathways are Ion channel transport and Transmission across Chemical Synapses. 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 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA6 Gene

Genomics for GABRA6 Gene

Regulatory Elements for GABRA6 Gene

Enhancers for GABRA6 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
GH05F161697 0.6 FANTOM5 47.8 +150.1 150128 0.2 GABRA6 GABRB2 GABRA1 GABRG2 ENSG00000253403 GLRXP3
GH05F161546 0.2 ENCODE 0.8 +0.6 576 1.3 SRF ZNF362 RNF2 BHLHE40 NRF1 CBX2 ZFP69B ZFHX2 ZBTB48 ZNF692 GABRA6 GABRB2
GH05F161406 0.5 ENCODE 0.1 -140.3 -140261 1.0 ZNF26 MAFK GC05M161391 GABRA6
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GABRA6 on UCSC Golden Path with GeneCards custom track

Promoters for GABRA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001875964 138 1600 SRF ZNF362 RNF2 BHLHE40 NRF1 CBX2 ZNF384 ZFP69B ZFHX2 ZBTB48

Genomic Location for GABRA6 Gene

Chromosome:
5
Start:
161,547,063 bp from pter
End:
161,702,593 bp from pter
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 Asn 31, Asn 128, and Asn 141
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRA6 Gene

Antibody Products

  • R&D Systems Antibodies for GABRA6 (GABA-A R alpha 6)

No data available for DME Specific Peptides for GABRA6 Gene

Domains & Families for GABRA6 Gene

Gene Families for GABRA6 Gene

Suggested Antigen Peptide Sequences for GABRA6 Gene

GenScript: Design optimal peptide antigens:

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

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
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 GABRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0008503 benzodiazepine receptor activity TAS 8632757
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

miRNA for GABRA6 Gene

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRA6 (GABA-A R alpha 6)

Flow Cytometry Products

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
Jensen Localization Image for GABRA6 Gene COMPARTMENTS Subcellular localization image for GABRA6 gene
Compartment Confidence
plasma membrane 5
lysosome 1
vacuole 1

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 8632757
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

Pathways & Interactions for GABRA6 Gene

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

Gene Ontology (GO) - Biological Process for GABRA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 8632757
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA,TAS 8632757
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
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

(93) 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 Pharma binder, Target, potentiator 2
Butabarbital Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 0
Butalbital Approved, Illicit Pharma antagonist, Target, Target, potentiator, positive allosteric modulator 0
Butethal Approved, Illicit Pharma antagonist, Target, potentiator 0
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator
THIP
Agonist
3'-Hydroxyhexobarbital
427-29-2
Alpha-hydroxyalprazolam
37115-43-8

(5) Tocris Compounds for GABRA6 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

(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

Transcripts for GABRA6 Gene

mRNA/cDNA for GABRA6 Gene

Unigene Clusters for GABRA6 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRA6 (GABA-A R alpha 6)

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
GABRA6

Expression for GABRA6 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for GABRA6 Gene



Protein tissue co-expression partners for GABRA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRA6 Gene:

GABRA6

SOURCE GeneReport for Unigene cluster for GABRA6 Gene:

Hs.90791
genes like me logo Genes that share expression patterns with GABRA6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia GABRA6 34 35
  • 92.64 (n)
cow
(Bos Taurus)
Mammalia GABRA6 34 35
  • 91.32 (n)
mouse
(Mus musculus)
Mammalia Gabra6 34 16 35
  • 86.71 (n)
rat
(Rattus norvegicus)
Mammalia Gabra6 34
  • 86.12 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRA6 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA6 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA6 34 35
  • 79.49 (n)
lizard
(Anolis carolinensis)
Reptilia GABRA6 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra6 34
  • 72.94 (n)
zebrafish
(Danio rerio)
Actinopterygii gabra6b 34 35
  • 69.22 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36 34
  • 53.11 (n)
Grd 36
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000039 34
  • 51.25 (n)
worm
(Caenorhabditis elegans)
Secernentea lgc-37 34
  • 46.02 (n)
F11H8.2 36
  • 35 (a)
Species where no ortholog for GABRA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • wheat (Triticum aestivum)

Evolution for GABRA6 Gene

ENSEMBL:
Gene Tree for GABRA6 (if available)
TreeFam:
Gene Tree for GABRA6 (if available)

Paralogs for GABRA6 Gene

Paralogs for GABRA6 Gene

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

Variants for GABRA6 Gene

Sequence variations from dbSNP and Humsavar for GABRA6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_036033 A colorectal cancer sample
rs10039400 -- 161,687,914(+) TCAAG(A/G)GATAA intron-variant
rs10043518 -- 161,689,940(+) CAGGT(A/G)CATAT intron-variant
rs111395161 -- 161,695,621(+) ACTAT(C/G)TTCCT intron-variant
rs111469571 -- 161,693,408(+) AAAAA(A/T)GCCAT intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
neurotic disorder
  • depressive neurosis
alcohol dependence
  • alcohol dependence, protection against
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRA6

Genetic Association Database (GAD)
GABRA6
Human Genome Epidemiology (HuGE) Navigator
GABRA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA6
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 G.S. (Mol. Psychiatry 2004) 3 22 46 64
  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 K.L. … Whiting P.J. (Mol. Pharmacol. 1996) 3 4 22 64
  3. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PMID: 21041608) van Winkel R. (Arch. Gen. Psychiatry 2011) 3 46 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 GABRA6 Gene

Sources for GABRA6 Gene

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