GLRB Gene Summary [Human]
This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | GLRB |
| Official Name | glycine receptor beta [Source:HGNC Symbol;Acc:HGNC:4329] |
| Ensembl ID | ENSG00000109738 |
| Bio databases IDs | |
| Aliases | glycine receptor beta |
| Synonyms | glycine receptor beta, glycine receptor, beta, glycine receptor, beta subunit, glycine receptor β, glycine receptor, β, glycine receptor, β subunit, Glyrb, HKPX2, spa, spastic |
| Species | Human, Homo sapiens |
| Orthologies |
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 GLRB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycine-gated ion channel
- intracellular loop
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- intracellular M3-M4 domain
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- ion channel
- Sh3 domain binding motif
- LGIC_ECD
- neurotransmitter receptor
- binding protein
- Neurotransmitter-gated ion-channel transmembrane region
- glycine binding
- Neurotransmitter-gated ion-channel ligand binding domain
- intracellular domain
- glycine-gated chloride channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- Huntington disease
- hyperekplexia type 2
- schizophrenia
regulates
- TGF
- ion
- chloride
- GPHN
- Glycine receptor
role in cell
- transmembrane potential
- invasion
- chemotaxis
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
- plasma membrane fraction
- membrane fraction
- organelle
- cellular membrane
- Endoplasmic Reticulum
- plasma membrane extracellular face
- postsynaptic membrane
- synapse
- dendrites
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLRB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, glycinergic
- regulation of excitatory postsynaptic membrane potential
- righting reflex
- acrosome reaction
- nervous system development
- synaptic transmission
- visual perception
- adult walking behavior
- ion transport
- neuropeptide signaling pathway
- regulation of membrane potential
- gamma-aminobutyric acid receptor clustering
- startle response
Cellular Component
Where in the cell the gene product is active
- dendrite
- glycine-gated chloride channel complex
- postsynaptic membrane
- cytoplasm
- synapse
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- extracellular-glycine-gated ion channel activity
- extracellular-glycine-gated chloride channel activity
- protein binding
- transmembrane signaling receptor activity
- neurotransmitter receptor activity
- excitatory extracellular ligand-gated ion channel activity
- glycine binding
- chloride channel activity