GNG5 Gene: G Protein Subunit Gamma 5 - Function, Mutations, and Disease Associations

GNG5 encodes the gamma 5 subunit of heterotrimeric G proteins. These proteins are critical mediators of signal transduction from G protein-coupled receptors (GPCRs) to downstream effectors. The gamma subunit, together with beta subunits, forms the beta-gamma complex that modulates various cellular responses including ion channel activity, enzyme regulation, and cytoskeletal organization.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• GPCR downstream signaling (Reactome: R-HSA-388396)

• Phototransduction cascade (KEGG: hsa04744)

• G alpha (i) signaling events (Reactome: R-HSA-418594)

GNG5 is a 68-amino acid protein (molecular weight ~7.5 kDa) that belongs to the G protein gamma subunit family. It forms a stable dimer with G protein beta subunits, which is essential for proper GPCR signaling. The protein is highly expressed in retina and brain, consistent with its role in sensory and neuronal signal transduction. Post-translational modifications include isoprenylation at the C-terminal CAAX motif, which anchors the complex to the plasma membrane.