Free for academic non-profit institutions. Other users need a Commercial license
The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
GLRA2 (Glycine Receptor Alpha 2) is a Protein Coding gene. Diseases associated with GLRA2 include Epilepsy, Idiopathic Generalized 13 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 extracellular ligand-gated ion channel activity and extracellularly glycine-gated chloride channel activity. An important paralog of this gene is GLRA3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ014529 | Promoter | 1.1 | EPDnew Ensembl | 600.7 | +0.0 | 2 | 1 | CTCF REST RAD21 SMC3 YY1 EHMT2 ZNF654 SIN3A ZNF143 MIER2 | GLRA2 LOC107985686 FANCB | |
GH0XJ014496 | Enhancer | 0.5 | ENCODE | 13.1 | -32.1 | -32057 | 1.1 | PKNOX1 RELB RUNX3 ASH2L EBF1 ATF7 | GLRA2 RF00994-1160 piR-55361-590 GEMIN8 | |
GH0XJ014554 | Enhancer | 0.3 | ENCODE | 12.6 | +25.1 | 25056 | 0.2 | NR2F2 | GLRA2 LOC107985686 FANCB | |
GH0XJ014673 | Enhancer | 0.9 | Ensembl ENCODE | 0.1 | +144.4 | 144403 | 1.4 | ZNF629 ZNF692 DPF2 JUND ZNF10 CEBPB RUNX3 CHD2 OSR2 JUN | MOSPD2 piR-37972-711 piR-60146-198 GLRA2 FANCB | |
GH0XJ014409 | Enhancer | 0.6 | Ensembl ENCODE | 0.1 | -119.8 | -119760 | 1 | RFX1 FOXA2 NFIB FOXA1 FOSL2 NFIA | RF01045-152 piR-40110-706 GLRA2 GEMIN8 |
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 | glycine binding | IDA | 2155780 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,IDA | 2155780 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | 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
.38
|
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,IDA | 2155780 |
GO:0007268 | chemical synaptic transmission | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ethanol | Approved | Pharma | Target, agonist | 3266 | ||
Lindane | Approved, Withdrawn | Pharma | Target, antagonist | 0 | ||
Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Target, ligand | 196 | ||
Colchicine | Approved | Pharma | Antagonist, binder | Tubulin Inhibitor | 157 | |
Tropisetron | Approved, Investigational | Pharma | Antagonist, antagonist | 27 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
Compound | Action | Cas Number |
---|---|---|
Hypotaurine | 300-84-5 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GLRA2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GLRA2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GLRA2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Glra2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GLRA2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Glra2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GLRA2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GLRA2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GLRA2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | glra2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | glra2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Rdl 32 |
|
|
|
GluClalpha 32 |
|
|
|||
CG8916 32 |
|
|
|||
ort 32 |
|
|
|||
CG6927 32 |
|
|
|||
CG7589 32 |
|
|
|||
CG11340 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | glc-3 32 |
|
|
|
avr-14 32 |
|
|
|||
glc-1 32 |
|
|
|||
T24D8.1 32 |
|
|
|||
F11H8.2 32 |
|
|
|||
glc-2 32 |
|
|
|||
C39B10.2 32 |
|
|
|||
gbr-5 32 |
|
|
|||
F55D10.5 32 |
|
|
|||
Y39A3B.2 32 |
|
|
|||
gbr-4 32 |
|
|
|||
glc-4 32 |
|
|
|||
gbr-6 32 |
|
|
|||
Y71D11A.5 32 |
|
|
|||
C53D6.3 32 |
|
|
|||
F58G6.4 32 |
|
|
|||
K10D6.1 32 |
|
|
|||
W10G11.16 32 |
|
|
|||
T20B12.9 32 |
|
|
|||
T27E9.9 32 |
|
|
|||
Y73F8A.2 32 |
|
|
|||
F09G2.5 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
780683 | Benign: not provided | 14,730,215(+) | C/T | SYNONYMOUS_VARIANT | |
810508 | Uncertain Significance: not provided | 14,581,408(+) | T/TAAGC | INTRON_VARIANT | |
810509 | Uncertain Significance: not provided | 14,581,411(+) | G/A | INTRON_VARIANT | |
810510 | Uncertain Significance: not provided | 14,609,162(+) | C/T | MISSENSE_VARIANT | |
rs1555999184 | Uncertain Significance: not provided | 14,532,376(+) | G/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv502n21 | CNV | gain | 19592680 |
esv1737273 | CNV | insertion | 17803354 |
esv27338 | CNV | loss | 19812545 |
esv2739975 | CNV | deletion | 23290073 |
esv2739976 | CNV | deletion | 23290073 |
esv3397621 | OTHER | inversion | 20981092 |
esv3435574 | OTHER | inversion | 20981092 |
nsv507947 | OTHER | sequence alteration | 20534489 |
nsv518002 | CNV | gain | 19592680 |
nsv518062 | CNV | gain | 19592680 |
nsv520933 | CNV | gain | 19592680 |
nsv522625 | CNV | gain | 19592680 |
nsv526475 | CNV | gain | 19592680 |
nsv6810 | CNV | deletion | 18451855 |
nsv6811 | CNV | insertion | 18451855 |
nsv9934 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, idiopathic generalized 13 |
|
|
hyperekplexia |
|
|
high pressure neurological syndrome |
|
|
glycine encephalopathy |
|
|
stiff-person syndrome |
|
|