GABRR2
Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| gamma-aminobutyric acid type A receptor rho2 subunit | MIM:137162 | Ensembl:ENSG00000111886 | HGNC:HGNC:4091 | PA28506 | 6q15 |
GO terms in GABRR2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0034707 | chloride channel complex |
| CC | IBA | GO:0043005 | neuron projection |
| CC | IBA | GO:0045202 | synapse |
| CC | IEA | GO:0045211 | postsynaptic membrane |
| CC | IBA | GO:1902711 | GABA-A receptor complex |
| BP | IBA | GO:0007165 | signal transduction |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0007214 | gamma-aminobutyric acid signaling pathway |
| BP | IBA | GO:0007268 | chemical synaptic transmission |
| BP | TAS | GO:0007268 | chemical synaptic transmission |
| BP | IEA | GO:0007601 | visual perception |
| BP | IBA | GO:0034220 | ion transmembrane transport |
| BP | IBA | GO:0042391 | regulation of membrane potential |
| BP | IBA | GO:0050877 | nervous system process |
| BP | IEA | GO:1902476 | chloride transmembrane transport |
| MF | IBA | GO:0004890 | GABA-A receptor activity |
| MF | IBA | GO:0005230 | extracellular ligand-gated ion channel activity |
| MF | IEA | GO:0005230 | extracellular ligand-gated ion channel activity |
| MF | IEA | GO:0005254 | chloride channel activity |
| MF | IEA | GO:0019904 | protein domain specific binding |
Gene expression in normal tissue: GABRR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GABRR2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| kegg | hsa05032 | Morphine addiction - Homo sapiens (human) |
| kegg | hsa05033 | Nicotine addiction - Homo sapiens (human) |
| wikipathways | WP3584 | MECP2 and Associated Rett Syndrome |
| wikipathways | WP3998 | Prader-Willi and Angelman Syndrome |
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-977442 | GABA A (rho) receptor activation |
| reactome | R-HSA-977443 | GABA receptor activation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GABRR2
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