GABRE Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
GABRE
Official Name
gamma-aminobutyric acid type A receptor subunit epsilon [Source:HGNC Symbol;Acc:HGNC:4085]
Ensembl ID
ENSG00000102287
Bio databases IDs NCBI: 2564 Ensembl: ENSG00000102287
Aliases gamma-aminobutyric acid type A receptor subunit epsilon, GABA(A) receptor, epsilon
Synonyms gamma-aminobutyric acid (GABA) A receptor, subunit epsilon, gamma-aminobutyric acid type A receptor subunit epsilon, γ-aminobutyric acid (GABA) A receptor, subunit ε, γ-aminobutyric acid type A receptor subunit ε
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GABRE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • GABA-A receptor
  • transmembrane domain of Cys-loop neurotransmitter-gated ion channels
  • channel/pore class transporter
  • extracellular ligand-gated ion channel
  • Cation transporter family protein
  • ion channel
  • anion channel
  • neurotransmitter receptor
  • LGIC_ECD
  • Neurotransmitter-gated ion-channel transmembrane region
  • Neurotransmitter-gated ion-channel ligand binding domain
  • chloride channel
  • ligand-gated ion channel

Pathways

Biological processes and signaling networks where the GABRE gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • plasma cell myeloma
  • cancer
  • epithelial cancer
  • infection
  • neurological disorder
  • mania
  • alcohol use disorder
  • psychosis
  • chemotherapy sickness
  • tuberculosis
regulated by
regulates
  • chloride

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • postsynaptic membrane
  • synapse

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GABRE gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of postsynaptic membrane potential
  • negative regulation of chloride transport
  • synaptic transmission, GABAergic
  • gamma-aminobutyric acid signaling pathway

Cellular Component

Where in the cell the gene product is active
  • chloride channel complex
  • dendrite membrane
  • postsynaptic membrane
  • synapse
  • neuron projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • GABA-A receptor activity
  • chloride channel activity
  • benzodiazepine receptor activity
  • GABA-gated chloride ion channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.