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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
Title: GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
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.
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.
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).
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.
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.
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.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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
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

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)

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