GABRR2 Gene Summary [Human]

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

Details

Type
Retained Intron
Official Symbol
GABRR2
Official Name
gamma-aminobutyric acid type A receptor subunit rho2 [Source:HGNC Symbol;Acc:HGNC:4091]
Ensembl ID
ENSG00000111886
Bio databases IDs NCBI: 2570 Ensembl: ENSG00000111886
Aliases gamma-aminobutyric acid type A receptor subunit rho2, GABA(A) receptor, rho 2
Synonyms Gabar2, gamma-aminobutyric acid type A receptor subunit rho 2, RHO2, γ-aminobutyric acid type A receptor subunit rho 2
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 GABRR2 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
  • inhibitory extracellular ligand-gated ion channel
  • transmembrane domain of Cys-loop neurotransmitter-gated ion channels
  • channel/pore class transporter
  • protein domain specific binding
  • extracellular ligand-gated ion channel
  • Cation transporter family protein
  • protein binding
  • 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 GABRR2 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
  • estazolam
  • adinazolam
  • diazepam
  • flurazepam
  • quazepam
  • temazepam
  • midazolam
  • triazolam
  • nitrazepam
  • oxazepam
disease
  • dementia
  • depressive disorder
  • schizophrenia
  • anxiety disorder
  • cancer
  • cerebral palsy
  • non-small cell lung cancer
  • alcohol withdrawal syndrome
  • pain
  • arthritis
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
  • intracellular membrane-bounded organelle
  • cellular membrane
  • vesicles
  • synapse
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GABRR2 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
  • regulation of membrane potential
  • signal transduction
  • synaptic transmission
  • visual perception
  • gamma-aminobutyric acid signaling pathway

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • protein domain specific binding
  • neurotransmitter receptor activity
  • GABA-A receptor activity
  • chloride channel 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.