GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRA3provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit alpha3provided by HGNC
Primary source: HGNC:HGNC:4077
See related: Ensembl:ENSG00000011677 MIM:305660; AllianceGenome:HGNC:4077
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
Also known as: EPILX2
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: Biased expression in brain (RPKM 11.7) and placenta (RPKM 1.8) See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (152166234..152451315, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150432298..150717938, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151334706..151619787, complement)

Chromosome X - NC_000023.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-92b inhibited cells EMT by targeting Gabra3 and predicted prognosis of triple negative breast cancer patients.
Title: MiR-92b inhibited cells EMT by targeting Gabra3 and predicted prognosis of triple negative breast cancer patients.
The intracellular domain of GABRA3 and GABRB3 each contain essential anterograde trafficking signals that are required to overcome ER retention of assembled GABAA homo- or heteropentamers.
Title: Anterograde trafficking signals in GABA(A) subunits are required for functional expression.
data indicate that the activation of CT-GABRA3 is correlated with that of MAGEA6. Therefore, MAGEA6 is linked with CT-GABRA3 through a bidirectional promoter.
Title: Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation of a Segmental Duplication in the Human X Chromosome.
The GABRA3 found distribute in intercalated nucleui of amygdala and dentate gyrus.
Title: GABA(A) receptor subunits in the human amygdala and hippocampus: Immunohistochemical distribution of 7 subunits.
These small-molecule GlyR PAMs have high potential both as early tool compounds to enable pharmacological studies of GlyR inhibitory neurotransmission and as a starting point for the development of potent, selective GlyRalpha3 PAMs as novel analgesics.
Title: Identification of Positive Allosteric Modulators of Glycine Receptors from a High-Throughput Screen Using a Fluorescent Membrane Potential Assay.
GABA alpha2 and/or alpha3 receptor subtypes are involved in GABAergic modulation of prolactin secretion.
Title: The effects of the nonselective benzodiazepine lorazepam and the α2 /α3 subunit-selective GABAA receptor modulators AZD7325 and AZD6280 on plasma prolactin levels.
GABRA3 induced MMP-2 and MMP-9 expression through activation of the JNK/AP-1 signaling pathway, promoting lymphatic metastasis in lung adenocarcinoma.
Title: GABRA3 promotes lymphatic metastasis in lung adenocarcinoma by mediating upregulation of matrix metalloproteinases.
Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
Title: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
The alpha3-immunoreactivity in the cerebellar cortex was relatively weak, but it was abundantly observed in different cell populations in the subcortical cerebellar structures
Title: The α1, α2, α3, and γ2 subunits of GABAA receptors show characteristic spatial and temporal expression patterns in rhombencephalic structures during normal human brain development.
Gabra3 activates the AKT pathway to promote breast cancer cell migration, invasion and metastasis. The A-to-I RNA-edited form of Gabra3 is found only in non-invasive breast cancers. Edited Gabra3 suppresses breast cancer cell invasion and metastasis.
Title: The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description	Tests
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MedGen: C5774178 OMIM: 301091 GeneReviews: Not available	not available

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

DXS7358 (e-PCR)
- UniSTS:11810

GABRA3_3360 (e-PCR)
- UniSTS:462208

fd15a03.x1 (e-PCR)
- UniSTS:195201

Gabra3 (e-PCR), detects polymorphism
- UniSTS:496043

DXS7073 (e-PCR)
- UniSTS:98992

GDB:452932 (e-PCR)
- UniSTS:99799

RH106545 (e-PCR)
- UniSTS:155099

SHGC-147223 (e-PCR)
- UniSTS:172774

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
enables GABA-gated chloride ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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 synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor 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	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation 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-3

Names: GABA(A) receptor subunit alpha-3; GABA(A) receptor, alpha 3; gamma-aminobutyric acid (GABA) A receptor, alpha 3; gamma-aminobutyric acid type A receptor alpha3 subunit; gamma-animobutyric acid (GABA) A receptor, alpha 3

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.

Genomic

NG_007102.2 RefSeqGene

Range

5044..290125

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000808.4 → NP_000799.1 gamma-aminobutyric acid receptor subunit alpha-3 precursor

See identical proteins and their annotated locations for NP_000799.1

Status: REVIEWED

Source sequence(s)

AC116666, BC028629, DA402645, S62908

Consensus CDS

CCDS14706.1

UniProtKB/Swiss-Prot

P34903, Q8TAF9

UniProtKB/TrEMBL

B2R621

Related

ENSP00000359337.4, ENST00000370314.9

Conserved Domains (2) summary

TIGR00860
Location:69 → 478

LIC; Cation transporter family protein

cd19036
Location:75 → 274

LGIC_ECD_GABAAR_A3; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-3 (GABAAR-A3 or GABRA3)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

152166234..152451315 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724811.4 → XP_006724874.1 gamma-aminobutyric acid receptor subunit alpha-3 isoform X1

Conserved Domains (2) summary

pfam02931
Location:68 → 275

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:282 → 310

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region