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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]
GLRB (Glycine Receptor Beta) is a Protein Coding gene. Diseases associated with GLRB include Hyperekplexia 2 and Hyperekplexia. Among its related pathways are Ligand-gated ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include drug binding and glycine binding. An important paralog of this gene is GLRA2.
Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
GO:0005254 | contributes_to chloride channel activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 11929858 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,IMP | 11929858 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Ion channel transport | ||
3 | Ligand-gated ion channel transport | ||
4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
5 | DAG and IP3 signaling |
Neurophysiological process PGE2-induced pain processing
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001964 | startle response | IMP | 11929858 |
GO:0006811 | ion transport | IDA | 8717357 |
GO:0006821 | chloride transport | IEA | -- |
GO:0007165 | signal transduction | IBA | 21873635 |
GO:0007218 | neuropeptide signaling pathway | IBA,IDA | 8717357 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lindane | Approved, Withdrawn | Pharma | Target, antagonist | 0 | ||
Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Target, ligand | 196 | ||
Nifedipine | Approved | Pharma | Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, blocker | 148 | ||
Tropisetron | Approved, Investigational | Pharma | Antagonist, antagonist | 27 | ||
cannabidiol | Approved, Investigational | Pharma | Agonist, Partial agonist, Antagonist, Channel blocker, Activator, Target, allosteric modulator | 0 |
Compound | Action | Cas Number |
---|---|---|
beta-Alanine | Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) | 107-95-9 |
Hypotaurine | Non-selective endogenous glycine receptor agonist | 300-84-5 |
L-Alanine | Glycine receptor agonist | 56-41-7 |
L-Serine | Weak endogenous glycine receptor agonist | 56-45-1 |
Taurine | Non-selective, endogenous glycine receptor partial agonist | 107-35-7 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GLRB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GLRB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GLRB 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GLRB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GLRB 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Glrb 30 |
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Mouse (Mus musculus) |
Mammalia | Glrb 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GLRB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GLRB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | glrb 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | glrba 31 |
|
OneToMany | |
glrbb 30 31 |
|
OneToMany | |||
glrb 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001913 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | ort 30 32 |
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CG11340 32 |
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CG7589 32 |
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CG6927 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | glc-2 32 |
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glc-1 32 |
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gbr-4 32 |
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W10G11.16 32 |
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gbr-5 32 |
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T24D8.1 32 |
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Y46G5A.26 32 |
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C39B10.2 32 |
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K10D6.1 32 |
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T20B12.9 32 |
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glc-3 32 |
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C53D6.3 32 |
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F55D10.5 32 |
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T27E9.9 32 |
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Y73F8A.2 32 |
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F09G2.5 32 |
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F58G6.4 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643650 | Uncertain Significance: Hyperekplexia 2 | 157,122,342(+) | A/G | MISSENSE_VARIANT | |
651260 | Uncertain Significance: Hyperekplexia 2 | 157,120,618(+) | G/A | MISSENSE_VARIANT | |
653331 | Pathogenic: Hyperekplexia 2 | 157,078,046(+) | GC/G | FRAMESHIFT_VARIANT | |
715278 | Benign: Hyperekplexia 2 | 157,143,820(+) | C/T | SYNONYMOUS_VARIANT | |
726330 | Likely Benign: Hyperekplexia 2 | 157,120,655(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2661593 | CNV | deletion | 23128226 |
esv3602801 | CNV | gain | 21293372 |
esv3602804 | CNV | loss | 21293372 |
esv3602805 | CNV | loss | 21293372 |
nsv1018387 | CNV | gain | 25217958 |
nsv1027454 | CNV | gain | 25217958 |
nsv595803 | CNV | gain | 21841781 |
nsv595804 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperekplexia 2 |
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hyperekplexia |
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stiff-person syndrome |
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glycine encephalopathy |
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epilepsy, idiopathic generalized 13 |
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