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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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ligand-gated ion channel transport. 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 | contributes_to extracellular ligand-gated ion channel activity | IBA | 21873635 |
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 | IMP,IBA | 11929858 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
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Lindane | Approved, Withdrawn | Pharma | Target, antagonist | 0 | ||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 | Full agonist, Agonist, Target | 368 | ||
Nifedipine | Approved | Pharma | Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, blocker | 136 | ||
Tropisetron | Approved, Investigational | Pharma | Antagonist, antagonist | 26 | ||
cannabidiol | Approved, Investigational | Pharma | Partial agonist, Agonist, Antagonist, Activator, Channel blocker, 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 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | GLRB 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | GLRB 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | GLRB 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | GLRB 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Glrb 32 |
|
||
mouse (Mus musculus) |
Mammalia | Glrb 17 33 32 |
|
||
chicken (Gallus gallus) |
Aves | GLRB 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | GLRB 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | glrb 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | glrba 33 |
|
OneToMany | |
glrbb 33 32 |
|
OneToMany | |||
glrb 32 |
|
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001913 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | ort 34 32 |
|
||
CG11340 34 |
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CG7589 34 |
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CG6927 34 |
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worm (Caenorhabditis elegans) |
Secernentea | glc-2 34 |
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glc-1 34 |
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gbr-4 34 |
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W10G11.16 34 |
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gbr-5 34 |
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Y46G5A.26 34 |
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T24D8.1 34 |
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C39B10.2 34 |
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K10D6.1 34 |
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glc-3 34 |
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T20B12.9 34 |
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F55D10.5 34 |
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T27E9.9 34 |
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C53D6.3 34 |
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Y73F8A.2 34 |
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F58G6.4 34 |
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F09G2.5 34 |
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sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10517662 | benign, Hyperekplexia | 157,171,909(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1129304 | benign, Hyperekplexia | 157,171,270(+) | T/A/C | 3_prime_UTR_variant, non_coding_transcript_variant | |
rs114822438 | benign, Hyperekplexia | 157,171,303(+) | T/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
rs116140979 | benign, Hyperekplexia | 157,171,631(+) | T/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
rs11936411 | benign, Hyperekplexia | 157,138,795(+) | G/A/T | intron_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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