GABRB2 iso1 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer. The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity. Functions also as histamine receptor and mediates cellular responses to histamine. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub-subfamily. 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. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Channel, chloride; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 5q34
Cellular Component:  cell junction; chloride channel complex; cytoplasmic vesicle membrane; cytosol; GABA-A receptor complex; GABA-ergic synapse; integral component of plasma membrane; integral component of postsynaptic specialization membrane; plasma membrane
Molecular Function:  chloride channel activity; GABA-A receptor activity; inhibitory extracellular ligand-gated ion channel activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
Biological Process:  cellular response to histamine; chloride transmembrane transport; cochlea development; gamma-aminobutyric acid signaling pathway; inhibitory synapse assembly; inner ear receptor cell development; innervation; negative regulation of neuron apoptotic process; regulation of postsynaptic membrane potential; sensory perception of sound; synaptic transmission, GABAergic
Disease: Epileptic Encephalopathy, Infantile Or Early Childhood, 2
Reference #:  P47870-1 (UniProtKB)
Alt. Names/Synonyms: GABA(A) receptor subunit beta-2; GABRB2; gamma-aminobutyric acid (GABA) A receptor, beta 2; gamma-aminobutyric acid A receptor beta 2; Gamma-aminobutyric acid receptor subunit beta-2; GBRB2; MGC119386; MGC119388; MGC119389
Gene Symbols: GABRB2
Molecular weight: 54,606 Da
Basal Isoelectric point: 9.35  Predict pI for various phosphorylation states
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GABRB2 iso1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein