OR2AK2 Gene: Function, Location, and Disease Associations | Biomedical Database

OR2AK2 is a protein-coding gene that encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) superfamily. These receptors are primarily expressed in the olfactory epithelium and are involved in the detection of odorants, initiating a signaling cascade that leads to the perception of smell. The gene is located on chromosome 1 at the q44 region and is part of the large olfactory receptor gene family, which is the largest gene family in the human genome. OR2AK2 is characterized by a seven-transmembrane domain structure typical of GPCRs. While its primary role is in olfaction, recent studies have suggested potential ectopic expression in non-olfactory tissues, raising interest in its possible involvement in various physiological and pathological processes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Olfactory transduction pathway (KEGG: hsa04740)

The OR2AK2 protein is a 312-amino acid olfactory receptor with a typical GPCR structure, featuring seven transmembrane helices. It is localized to the plasma membrane of olfactory sensory neurons. The protein is involved in the detection of odorant molecules, activating a G protein-coupled signaling cascade that ultimately leads to an action potential. Although its specific ligand is unknown, it is presumed to bind volatile odorants. Structural variations in olfactory receptors are common, but no functional studies have been performed on OR2AK2 specifically.