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].

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GO terms in GABRB3


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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
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Gene expression in normal tissue: GABRB3

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

ERK MAPK signaling1Protein stability and degradation1

Pathways in GABRB3


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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)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD309 17AAG 1
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GABRB3

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Reference ID
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Cancer
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