Gamma-aminobutyric acid receptor subunit gamma-2

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

GABRG2
Identifiers
Aliases	GABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit, EIEE74, FEB8
External IDs	OMIM: 137164; MGI: 95623; HomoloGene: 22443; GeneCards: GABRG2; OMA:GABRG2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q34 Start 162,000,057 bp[1] End 162,162,977 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A5|11 24.8 cM Start 41,801,030 bp[2] End 41,891,684 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 superior frontal gyrus primary visual cortex postcentral gyrus frontal pole Pons prefrontal cortex endothelial cell entorhinal cortex Top expressed in visual cortex primary visual cortex superior frontal gyrus perirhinal cortex central gray substance of midbrain entorhinal cortex dentate gyrus of hippocampal formation granule cell cerebellar cortex lateral hypothalamus ventral tegmental area More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding benzodiazepine receptor activity extracellular ligand-gated ion channel activity chloride channel activity GABA-A receptor activity ion channel activity transmembrane signaling receptor activity inhibitory extracellular ligand-gated ion channel activity GABA-gated chloride ion channel activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane postsynaptic membrane membrane synapse dendrite membrane chloride channel complex axon cell junction integral component of plasma membrane plasma membrane dendrite cytoplasmic vesicle membrane cytoplasmic vesicle cell projection GABA-A receptor complex neuron projection postsynapse GABA-ergic synapse Biological process gamma-aminobutyric acid signaling pathway synaptic transmission, GABAergic ion transport post-embryonic development adult behavior chloride transport cellular response to histamine chemical synaptic transmission chloride transmembrane transport ion transmembrane transport signal transduction regulation of membrane potential nervous system process regulation of postsynaptic membrane potential inhibitory synapse assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2566 14406 Ensembl ENSG00000113327 ENSMUSG00000020436 UniProt P18507 P22723 RefSeq (mRNA) NM_198904 NM_000816 NM_198903 NM_008073 NM_177408 NM_001362655 NM_001362656 RefSeq (protein) NP_000807 NP_944493 NP_944494 NP_001362268 NP_001362269 NP_001362270 NP_001362271 NP_001362272 NP_001362273 NP_001362274 NP_001362275 NP_001362276 NP_001362277 NP_001362278 NP_001362279 NP_032099 NP_803127 NP_001349584 NP_001349585 Location (UCSC) Chr 5: 162 – 162.16 Mb Chr 11: 41.8 – 41.89 Mb PubMed search [3] [4]
Wikidata
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Function

Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms.^[5]

Interactions

GABRG2 has been shown to interact with GABARAP^[6][7][8] and Dopamine receptor D5.^[9]

See also

• GABAA receptor