GLRB Gene: Glycine Receptor Beta Subunit
Essential component of inhibitory glycine receptors in the central nervous system
Gene Information Card
| Symbol | GLRB |
|---|---|
| Full Name | glycine receptor beta |
| Gene Type | protein coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 2743 ncbi.nlm.nih.gov/gene/2743 |
| Ensembl ID | ENSG00000109738 |
| UniProt ID | P48167 |
| OMIM ID | 138492 |
| HGNC ID | 4329 |
| Aliases | GlyR beta, GLRB1 |
Description
The GLRB gene encodes the beta subunit of the glycine receptor, a ligand-gated chloride channel that mediates inhibitory neurotransmission in the spinal cord and brainstem. The receptor is a pentamer composed of alpha and beta subunits; the beta subunit is essential for receptor clustering at synapses via interaction with gephyrin. Mutations in GLRB are associated with hyperekplexia (startle disease) and other neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperekplexia 2 (startle disease) | Loss-of-function mutations in GLRB impair glycine receptor function, reducing inhibitory neurotransmission and causing exaggerated startle responses | ClinVar, OMIM #138492 |
| Hyperekplexia with or without epilepsy | Missense and nonsense variants disrupt receptor assembly or channel gating | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spinal cord | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Brain (cortex) | 5.1 | Low |
| Testis | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Low expression |
| U-87 MG (glioblastoma) | 1.8 | Very low |
| HEK 293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Arg40His) | Missense | Rare | Reduced glycine sensitivity and channel conductance |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression |
| c.895C>T (p.Arg299*) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most GLRB mutations are loss-of-function, reducing chloride conductance or impairing receptor trafficking to the synapse.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GLRB.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by co-assembling with wild-type subunits and disrupting pentamer function.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-activated cation-selective channel activity (GO:0004889) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • glycine-gated chloride ion channel activity (GO:0016934) | • cell junction (GO:0030054) |
| • synapse (GO:0045202) | • excitatory synapse (GO:0060076) |
Pathways
• Glycine receptor signaling pathway (Reactome: R-HSA-5617472)
• Neurotransmitter receptor binding and downstream transmission in the postsynaptic cell
Protein Summary
The glycine receptor beta subunit (GLRB) is a 470-amino acid transmembrane protein that forms part of the inhibitory glycine receptor. It contains an extracellular N-terminal domain, four transmembrane domains (M1-M4), and a large intracellular loop that binds gephyrin for synaptic clustering. The beta subunit does not form functional homomeric channels but is required for proper receptor localization and modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLRB Knockout HEK293 Cell Line | EDJ-KQ3951 | Human | 2743 | Details Get a Quote |
| GLRB Knockout A-549 Cell Line | EDJ-KQ27449 | Human | 2743 | Details Get a Quote |
| GLRB Knockout HeLa Cell Line | EDJ-KQ27450 | Human | 2743 | Details Get a Quote |
| GLRB Knockout HCT 116 Cell Line | EDJ-KQ70321 | Human | 2743 | Details Get a Quote |
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