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This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
GLRA3 (Glycine Receptor Alpha 3) is a Protein Coding gene. Diseases associated with GLRA3 include Brain Stem Infarction and Hyperekplexia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and extracellularly glycine-gated chloride channel activity. An important paralog of this gene is GLRA1.
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.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J174828 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250.7 | +0.2 | 168 | 1.6 | SIN3A REST YY1 SP2 ZNF316 SMARCE1 EHMT2 PKNOX1 TAF1 NCOA1 | ADAM29 GLRA3 LOC101928551 lnc-ADAM29-3 HPGD | |
GH04J174875 | Promoter | 0.3 | EPDnew | 250.3 | -45.5 | -45485 | 0.1 | GLRA3 piR-59136-022 ENSG00000250200 LOC101928551 ADAM29 lnc-GLRA3-2 | ||
GH04J175127 | Enhancer | 0.6 | Ensembl ENCODE | 5.7 | -298.4 | -298423 | 2.4 | ZNF217 CEBPB EP300 SMARCE1 DPF2 FOS | GLRA3 piR-36573-055 HSALNG0038674 ENSG00000286494 ADAM29 GPM6A | |
GH04J174681 | Enhancer | 1.1 | FANTOM5 ENCODE | 0.1 | +147.7 | 147711 | 1.2 | IKZF1 HES1 MBD2 NONO ARNT ZNF395 REST NFATC3 VEZF1 NBN | HPGD piR-36393-400 LOC105377551 HSALNG0038656 GLRA3 | |
GH04J174757 | Enhancer | 0.4 | Ensembl | 0.2 | +71.5 | 71467 | 0.6 | RFX1 GLIS1 MZF1 USF1 | lnc-ADAM29-3 lnc-HPGD-4 GLRA3 HSALNG0038656 HPGD |
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:0016594 | contributes_to glycine binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,IMP | 9677400 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016935 | glycine-gated chloride channel complex | IDA | 9677400 |
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
.38
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006821 | chloride transport | IEA | -- |
GO:0007165 | signal transduction | IBA | 21873635 |
GO:0007218 | neuropeptide signaling pathway | IBA | 21873635 |
GO:0007268 | chemical synaptic transmission | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lindane | Approved, Withdrawn | Pharma | Target, antagonist | 0 | ||
Glycine | Approved, Vet_approved | Nutra | Target, ligand | 202 | ||
Nifedipine | Approved | Pharma | Antagonist, blocker | 150 | ||
Taurine | Approved | Nutra | Target, agonist | Non-selective, endogenous glycine receptor partial agonist | 48 | |
cannabidiol | Approved, Investigational | Pharma | Target, potentiator | 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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GLRA3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GLRA3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GLRA3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GLRA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GLRA3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Glra3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Glra3 30 |
|
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Chicken (Gallus gallus) |
Aves | GLRA3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GLRA3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | glra3 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | GLRA3 31 |
|
OneToOne | |
glra3 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Grd 32 |
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Rdl 32 |
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ort 32 |
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GluClalpha 32 |
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CG11340 32 |
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CG6927 32 |
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CG7589 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | glc-2 30 32 |
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avr-14 32 |
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glc-1 32 |
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C39B10.2 32 |
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gbr-5 32 |
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F11H8.2 32 |
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gbr-4 32 |
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Y39A3B.2 32 |
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glc-3 32 |
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F55D10.5 32 |
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T24D8.1 32 |
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gbr-6 32 |
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C53D6.3 32 |
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T27E9.9 32 |
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glc-4 32 |
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K10D6.1 32 |
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T20B12.9 32 |
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W10G11.16 32 |
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F09G2.5 32 |
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Y71D11A.5 32 |
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F58G6.4 32 |
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Y73F8A.2 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 |
---|---|---|---|---|---|
rs139727969 | Benign: not provided | 174,828,785(-) |
T/A NM_006529.4(GLRA3):c.27A>T (p.Thr9=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv911n67 | CNV | loss | 20364138 |
dgv9398n54 | CNV | loss | 21841781 |
dgv9399n54 | CNV | loss | 21841781 |
dgv9400n54 | CNV | loss | 21841781 |
dgv9401n54 | CNV | loss | 21841781 |
dgv9402n54 | CNV | loss | 21841781 |
dgv993e199 | CNV | deletion | 23128226 |
esv1917201 | CNV | deletion | 18987734 |
esv22642 | CNV | gain | 19812545 |
esv2672036 | CNV | deletion | 23128226 |
esv2728767 | CNV | deletion | 23290073 |
esv3297162 | CNV | deletion | 24192839 |
esv3565040 | CNV | deletion | 23714750 |
esv3603233 | CNV | loss | 21293372 |
esv3603234 | CNV | loss | 21293372 |
esv3603236 | CNV | gain | 21293372 |
esv3603237 | CNV | gain | 21293372 |
esv9678 | CNV | loss | 19470904 |
esv988593 | CNV | deletion | 20482838 |
nsv1027622 | CNV | gain | 25217958 |
nsv1072043 | CNV | deletion | 25765185 |
nsv1139328 | CNV | deletion | 24896259 |
nsv1139329 | CNV | deletion | 24896259 |
nsv507220 | OTHER | sequence alteration | 20534489 |
nsv596235 | CNV | loss | 21841781 |
nsv821054 | CNV | deletion | 20802225 |
nsv830156 | CNV | gain | 17160897 |
nsv967816 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brain stem infarction |
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hyperekplexia |
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