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

Summary

Official Symbol: GABREprovided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit epsilonprovided by HGNC
Primary source: HGNC:HGNC:4085
See related: Ensembl:ENSG00000102287 MIM:300093; AllianceGenome:HGNC:4085
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: The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]
Expression: Broad expression in skin (RPKM 13.6), fat (RPKM 13.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151953124..151974676, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150219338..150240900, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151121596..151143148, 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 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?

Rare variants in the GABAA receptor subunit epsilon identified in patients with a wide spectrum of epileptic phenotypes.
Title: Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study.
Title: Comprehensive Transcriptome Profiling of Cryptic CBFA2T3-GLIS2 Fusion-Positive AML Defines Novel Therapeutic Options: A COG and TARGET Pediatric AML Study.
data from the present study suggest a marginal role of GABRE rs1139916 in the risk for migraine in women.
Title: Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.
This study showed that in male groups, the expression of GABRE was generally lower in schizophrenia cases compared to the control.
Title: Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
Data indicate that GABA(A) receptor subunit epsilon (GABRE) approximately miR-452 approximately miR-224 locus is downregulated and hypermethylated in prostate cancer and is a promising epigenetic candidate biomarker for prostate cancer diagnosis and prognosis.
Title: Hypermethylation of the GABRE~miR-452~miR-224 promoter in prostate cancer predicts biochemical recurrence after radical prostatectomy.
GABRE protein levels were significantly increased in schizophrenia, major depressive disorder, and bipolar disorder patients' lateral cerebellum compared to controls.
Title: Expression of GABAA α2-, β1- and ε-receptors are altered significantly in the lateral cerebellum of subjects with schizophrenia, major depression and bipolar disorder.
single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
Title: Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
Using published alpha subunit data we identified two principal components labeled 'Decreasing' (alpha2, alpha5, beta1, gamma1 and gamma3) and 'Dynamic' (alpha1, alpha4, beta2 and gamma2) responsible for 84% of variation in GABA(A)R subunit development.
Title: Developmental co-regulation of the beta and gamma GABAA receptor subunits with distinct alpha subunits in the human dorsolateral prefrontal cortex.
Although GABRE genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility
Title: Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study of 182 candidate genes in anorexia nervosa.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

RH11304 (e-PCR)
- UniSTS:7425

GABRE_119 (e-PCR)
- UniSTS:277265

RH118462 (e-PCR)
- UniSTS:137755

STS-T27014 (e-PCR)
- UniSTS:54367

WI-17137 (e-PCR)
- UniSTS:55770

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-gated chloride ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay 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

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 negative regulation of chloride transport	IDA Inferred from Direct Assay more info	PubMed
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 GABA-A receptor complex	IDA Inferred from Direct Assay more info	PubMed
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
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 epsilon

Names: GABA(A) receptor subunit epsilon; GABA(A) receptor, epsilon; GABAAR subunit epsilon; gamma-aminobutyric acid (GABA) A receptor, epsilon; gamma-aminobutyric acid type A receptor epsilon 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.

Genomic

NG_012511.1 RefSeqGene

Range

5004..26556

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004961.4 → NP_004952.2 gamma-aminobutyric acid receptor subunit epsilon precursor

See identical proteins and their annotated locations for NP_004952.2

Status: REVIEWED

Source sequence(s)

BC026337, U92285, Y09765

Consensus CDS

CCDS14703.1

UniProtKB/Swiss-Prot

E7ET93, O15345, O15346, P78334, Q6PCD2, Q99520

Related

ENSP00000359353.3, ENST00000370328.4

Conserved Domains (2) summary

pfam02931
Location:71 → 276

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:285 → 408

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

151953124..151974676 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024452360.2 → XP_024308128.1 gamma-aminobutyric acid receptor subunit epsilon isoform X1

Conserved Domains (1) summary

cl27321
Location:1 → 291

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
XM_047441959.1 → XP_047297915.1 gamma-aminobutyric acid receptor subunit epsilon isoform X1
XM_047441960.1 → XP_047297916.1 gamma-aminobutyric acid receptor subunit epsilon isoform X2
XM_017029388.2 → XP_016884877.1 gamma-aminobutyric acid receptor subunit epsilon isoform X3
XM_011531140.3 → XP_011529442.1 gamma-aminobutyric acid receptor subunit epsilon isoform X4

UniProtKB/TrEMBL

B4DZS6

Conserved Domains (1) summary

pfam02932
Location:63 → 186

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

150219338..150240900 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326767.1 → XP_054182742.1 gamma-aminobutyric acid receptor subunit epsilon isoform X8
XM_054326765.1 → XP_054182740.1 gamma-aminobutyric acid receptor subunit epsilon isoform X6
XM_054326760.1 → XP_054182735.1 gamma-aminobutyric acid receptor subunit epsilon isoform X1
XM_054326759.1 → XP_054182734.1 gamma-aminobutyric acid receptor subunit epsilon isoform X1
XM_054326761.1 → XP_054182736.1 gamma-aminobutyric acid receptor subunit epsilon isoform X2
XM_054326762.1 → XP_054182737.1 gamma-aminobutyric acid receptor subunit epsilon isoform X3
XM_054326763.1 → XP_054182738.1 gamma-aminobutyric acid receptor subunit epsilon isoform X4
XM_054326764.1 → XP_054182739.1 gamma-aminobutyric acid receptor subunit epsilon isoform X5
XM_054326766.1 → XP_054182741.1 gamma-aminobutyric acid receptor subunit epsilon isoform X7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_021984.2: Suppressed sequence

Description

NM_021984.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_021987.2: Suppressed sequence

Description

NM_021987.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_021990.2: Suppressed sequence

Description

NM_021990.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.