GABRB2 iso1 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. 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. 4 isoforms of the human protein are produced by alternative splicing. 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