GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GABRA6provided by HGNC
Official Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 6provided by HGNC
Primary source: HGNC:4080
See related: Ensembl:ENSG00000145863; HPRD:08841; MIM:137143; Vega:OTTHUMG00000130351
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]

Genomic context

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Location :: 5q34

Sequence :: Chromosome: 5; NC_000005.9 (161112658..161129598)

See GABRA6 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
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.
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.
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.
studies have found prefrontal cortical GABA(A) receptor alpha subunit alterations in schizophrenia
Title: Prefrontal GABA(A) receptor alpha-subunit expression in normal postnatal human development and schizophrenia.
These findings suggest that common variation in the GABRA2, GABRA3, GABRA6, and GABRG2 genes does not play a major role in liability to anxiety spectrum disorders.
Title: Association study between GABA receptor genes and anxiety spectrum disorders.
Significant matching effects were found for polymorphisms at the DRD2, GABRA6 and GABRB2 gene. In addition, a trend was found for the OPRM1 polymorphism.
Title: Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators.
The T allele of the 1519T>C GABA(A)alpha6 gene may be one of the modulating factors associated with changes in craving for alcohol and food during treatment of patients with alcohol dependence.
Title: Craving for alcohol and food during treatment for alcohol dependence: modulation by T allele of 1519T>C GABAAalpha6.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.

Submit: New GeneRIF Correction See all (19)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:108833	BioGRID:119007	UBQLN1		BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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GABA A receptor activation, organism-specific biosystem (from REACTOME)
GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
GABA receptor activation, organism-specific biosystem (from REACTOME)
GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
GABAergic synapse, organism-specific biosystem (from KEGG)
GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
GABAergic synapse, conserved biosystem (from KEGG)
GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
Ion channel transport, organism-specific biosystem (from REACTOME)
Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
Morphine addiction, organism-specific biosystem (from KEGG)
Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Morphine addiction, conserved biosystem (from KEGG)
Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
Nicotine addiction, organism-specific biosystem (from KEGG)
Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
Nicotine addiction, conserved biosystem (from KEGG)
Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

General gene information

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Markers

RH106536 (e-PCR)
- UniSTS:209616

NoName (e-PCR)
- UniSTS:483808

A006O34 (e-PCR)
- UniSTS:30451

NoName (e-PCR)
- UniSTS:480500

Homology

Homologs of the GABRA6 gene: The GABRA6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GABA-A receptor activity	IEA Inferred from Electronic Annotation more info
benzodiazepine receptor activity	TAS Traceable Author Statement more info	PubMed
chloride channel activity	IEA Inferred from Electronic Annotation more info
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
gamma-aminobutyric acid signaling pathway	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	TAS Traceable Author Statement more info
signal transduction	TAS Traceable Author Statement more info	PubMed
synaptic transmission	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
chloride channel complex	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit alpha-6

Names: gamma-aminobutyric acid receptor subunit alpha-6; GABA(A) receptor, alpha 6; GABA subunit A receptor alpha 6; GABA(A) receptor subunit alpha-6

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)

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

Status: REVIEWED

Source sequence(s)

AC091944, BC096241, DA068807

Consensus CDS

CCDS4356.1

UniProtKB/Swiss-Prot

Q16445

Related

ENSP00000430527, OTTHUMP00000224262, ENST00000523217, OTTHUMT00000374125

Conserved Domains (3) summary

TIGR00860
Location:5 – 440
Blast Score: 839

LIC; Cation transporter family protein

pfam02931
Location:33 – 240
Blast Score: 490

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:247 – 437
Blast Score: 431

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p10 Primary Assembly

Range

161112658..161129598

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

156205057..156221975

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018916.1 Alternate CHM1_1.0

Range

161340984..161358020

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01044201.1 (153454..162919)	None
genomic	ABBA01044202.1	None
genomic	AC091944.2 (93468..110097)	None
genomic	AF053072.1	AAD19830.1
genomic	AMYH01015765.1 (689825..706861)	None
genomic	CH471062.2	EAW61542.1
mRNA	AK090735.1	BAG52222.1
mRNA	AK289461.1	BAF82150.1
mRNA	BC096241.3	AAH96241.1
mRNA	BC096242.3	AAH96242.1
mRNA	BC099640.3	AAH99640.1
mRNA	BC099641.3	AAH99641.1
mRNA	DA068807.1	None
mRNA	S81944.1	AAB36480.1