Protein Details: Gamma-aminobutyric acid receptor subunit beta-2
Protein ID
ICDB_Pro_0543
Protein Name
Gamma-aminobutyric acid receptor subunit beta-2
Gene Name
GABRB2
Organism
Homo sapiens (Human)
Length
512 amino acids
AlphaFoldDB
AF-P47870-F1-model_v4.pdb
Function
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA);a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels;also named GABA(A) receptors (GABAAR);consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s). When activated by GABA;GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential;thereby reducing nerve transmission (By similarity). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation. Extrasynaptic beta-2 receptors contribute to the tonic GABAergic inhibition (By similarity). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits;which may be involved in the regulation of sleep and wakefulness (By similarity).
Sequence
Ligand Binding
Binding Site
BINDING 121; /ligand="histamine": "ligand shared between two neighboring beta subunits"; /note="in chain B"; BINDING 180..181; /ligand="histamine": "ligand shared between two neighboring beta subunits"; /note="in chain B"; BINDING 181; /ligand="4-aminobutanoate": "ligand shared with the neighboring alpha subunit"; BINDING 226; /ligand="4-aminobutanoate": "ligand shared with the neighboring alpha subunit"; /ligand="histamine": "ligand shared between two neighboring beta subunits"; /note="in chain B"
Disease
Developmental And Epileptic Encephalopathy and Non-Specific Early-Onset Epileptic Encephalopathy
Location
Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression.
DOI ID
10.1016/0169-328x(94)00228-7; 10.1371/journal.pone.0006977; 10.1038/ng1285; 10.1101/gr.2596504; 10.1038/sj.mp.4001899; 10.1111/ejn.12331; 10.3791/52115; 10.1038/s41586-018-0255-3; 10.1002/ajmg.a.36714; 10.1016/j.ajhg.2017.09.008; 10.1136/jmedgenet-2016-104083
RefSeq
NP_000804.1 [P47870-1]; NP_068711.1 [P47870-2]