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GABRG2

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Excitatory neurons, Inhibitory neurons, Bipolar cells)

Immune cell specificity

Immune cell enhanced (basophil)

Cell line specificity

Cell line enhanced (CACO-2, Karpas-707, RPMI-8226, SuSa, U-266/70, U-266/84)

Interaction

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:2538761, PubMed:29950725). Interacts with GABARAP (PubMed:9892355). Interacts with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with LHFPL4 (By similarity). Interacts with SHISA7; interaction leads to the regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).

Molecular function

Chloride channel, Ion channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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