GABRB2

 Gamma-aminobutyric acid receptor subunit beta-2 is a protein that in humans is encoded by the GABRB2 gene.^[5][6]

GABRB2
Identifiers
Aliases	GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit, ICEE2, gamma-aminobutyric acid type A receptor subunit beta2
External IDs	OMIM: 600232 MGI: 95620 HomoloGene: 7327 GeneCards: GABRB2
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q34 Start 161,288,429 bp[1] End 161,549,044 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A5|11 25.08 cM Start 42,419,757 bp[2] End 42,629,028 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • inhibitory extracellular ligand-gated ion channel activity • ion channel activity • GABA receptor activity • chloride channel activity • extracellular ligand-gated ion channel activity • GABA-A receptor activity • transmembrane signaling receptor activity • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential • GABA-gated chloride ion channel activity Cellular component • integral component of membrane • cytosol • GABA-A receptor complex • postsynaptic membrane • membrane • cell membrane • integral component of plasma membrane • synapse • chloride channel complex • cell junction • GABA receptor complex • extracellular exosome • cytoplasmic vesicle membrane • cytoplasmic vesicle • neuron projection • GABA-ergic synapse • integral component of postsynaptic specialization membrane Biological process • gamma-aminobutyric acid signaling pathway • negative regulation of neuron apoptotic process • chemical synaptic transmission • cochlea development • regulation of neuron apoptotic process • neuron development • chloride transmembrane transport • synaptic transmission, GABAergic • sensory perception of sound • ion transport • inner ear receptor cell development • chloride transport • innervation • negative regulation of neuron death • cellular response to histamine • transport • signal transduction • ion transmembrane transport • regulation of membrane potential • nervous system process • postsynaptic potential • inhibitory synapse assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2561	14401
Ensembl	ENSG00000145864	ENSMUSG00000007653
UniProt	P47870	P63137
RefSeq (mRNA)	NM_000813 NM_021911 NM_001371727	NM_008070 NM_001347314 NM_001362646 NM_001362647 NM_001362649
RefSeq (protein)	NP_000804 NP_068711 NP_001358656	NP_001334243 NP_032096 NP_001349575 NP_001349576 NP_001349578
Location (UCSC)	Chr 5: 161.29 – 161.55 Mb	Chr 11: 42.42 – 42.63 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

FunctionEdit

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.^[6]

Clinical significanceEdit

Missense mutations of GABRB2 have been identified in patients with infantile onset epilepsy and intellectual disability.^[7][8]

InteractionsEdit

GABRB2 has been shown to interact with TRAK2.^[9]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.