Aliases for GABRB3 Gene
- Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3 2 3 5
- Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 2 3
- Gamma-Aminobutyric Acid Receptor Subunit Beta-3 3 4
- Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit 3
- Gamma-Aminobutyric Acid A Receptor Beta 3 3
- GABA-Alpha Receptor Beta-2 Subunit 3
External Ids for GABRB3 Gene
Previous GeneCards Identifiers for GABRB3 Gene
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]
GeneCards Summary for GABRB3 Gene
GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3) is a Protein Coding gene. Diseases associated with GABRB3 include Epilepsy, Childhood Absence 5 and Developmental And Epileptic Encephalopathy 43. Among its related pathways are GABA receptor activation and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB2.
UniProtKB/Swiss-Prot Summary for GABRB3 Gene
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). 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 (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity).
GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.