GABRB3
Summary: This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:137192 Ensembl IDEnsembl:ENSG00000166206 HGNC IDHGNC:HGNC:4083 PHARMGKB IDPA28497 Map Location15q12 | |||||
GO terms in GABRB3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004890 | GABA-A receptor activity |
| MF | IMP | GO:0004890 | GABA-A receptor activity |
| MF | IBA | GO:0005230 | extracellular ligand-gated ion channel activity |
| MF | IDA | GO:0022851 | GABA-gated chloride ion channel activity |
| MF | IMP | GO:0022851 | GABA-gated chloride ion channel activity |
| MF | ISS | GO:0022851 | GABA-gated chloride ion channel activity |
Gene expression in normal tissue: GABRB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GABRB3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| kegg | hsa05032 | Morphine addiction - Homo sapiens (human) |
| kegg | hsa05033 | Nicotine addiction - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GABRB3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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