GABRE: Gamma-Aminobutyric Acid Type A Receptor Subunit Epsilon
A key subunit of GABA-A receptors involved in inhibitory neurotransmission and implicated in epilepsy and neuropsychiatric disorders.
Gene Information Card
| Symbol | GABRE |
|---|---|
| Full Name | gamma-aminobutyric acid type A receptor subunit epsilon |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2564 ncbi.nlm.nih.gov/gene/2564 |
| Ensembl ID | ENSG00000102287 |
| UniProt ID | P78334 |
| OMIM ID | 300093 |
| HGNC ID | 4083 |
| Aliases | GABA(A) receptor subunit epsilon, Epsilon, MGC138237 |
Description
The GABRE gene encodes the epsilon subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a ligand-gated chloride ion channel that mediates fast inhibitory neurotransmission in the central nervous system. The epsilon subunit can assemble with other GABA-A receptor subunits (e.g., alpha, beta, gamma) to form functional heteropentameric channels with distinct pharmacological properties. GABRE is located on the X chromosome and is expressed in various brain regions, including the hippocampus and cortex. Variants in GABRE have been associated with epilepsy and neuropsychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, early-onset, with or without developmental delay | Missense and nonsense variants in GABRE may impair GABA-A receptor function, reducing inhibitory neurotransmission and increasing neuronal excitability. | ClinVar, OMIM |
| Intellectual disability, X-linked | Loss-of-function variants in GABRE on Xq28 may disrupt GABAergic signaling, contributing to cognitive impairment. | OMIM, NCBI |
| Anxiety disorders | Altered expression or function of GABRE-containing receptors may modulate anxiety-related circuits. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 2.1 | Low |
| Brain (hippocampus) | 1.8 | Low |
| Brain (cerebellum) | 1.5 | Low |
| Testis | 0.9 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
| U-87 MG (glioblastoma) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay or truncated protein |
| c.245G>A (p.Arg82His) | Missense | Rare | Likely damaging; may alter subunit assembly or channel gating |
| c.512T>C (p.Leu171Pro) | Missense | Rare | Likely damaging; may affect transmembrane domain stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature stop codons or protein truncation are classified as loss-of-function, reducing GABA-A receptor activity.
Gain of Function (GOF)
No gain-of-function variants have been reported for GABRE in curated databases.
Dominant Negative (DN)
Missense variants that disrupt subunit assembly or channel function may act in a dominant-negative manner, but specific evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity (GO:0004890) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • ion transport (GO:0006811) | • gamma-aminobutyric acid signaling pathway (GO:0007214) |
| • integral component of membrane (GO:0016021) | • chloride channel complex (GO:0034707) |
Pathways
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• GABAergic synapse (KEGG: hsa04727)
Protein Summary
The epsilon subunit (UniProt P78334) is a 506-amino acid protein with four transmembrane domains (M1-M4), a large extracellular N-terminal domain, and a cytoplasmic loop between M3 and M4. It forms part of the GABA-A receptor chloride channel. The epsilon subunit confers unique pharmacological properties, such as reduced sensitivity to benzodiazepines and increased sensitivity to certain anesthetics. Expression is enriched in the brain, particularly in regions involved in learning, memory, and emotional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRE Knockout HEK293 Cell Line | EDJ-KQ2844 | Human | 2564 | Details Get a Quote |
| GABRE Knockout A-549 Cell Line | EDJ-KQ25221 | Human | 2564 | Details Get a Quote |
| GABRE Knockout HCT 116 Cell Line | EDJ-KQ25223 | Human | 2564 | Details Get a Quote |
| GABRE Knockout HeLa Cell Line | EDJ-KQ25224 | Human | 2564 | Details Get a Quote |
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