OR5AK2 Gene: Function, Expression, and Disease Associations | Biomedical SEO

OR5AK2 is a member of the olfactory receptor (OR) gene family, which encodes G protein-coupled receptors (GPCRs) responsible for odorant detection in the nasal epithelium. These receptors are characterized by a seven-transmembrane domain structure and are involved in the sensory transduction of smell. OR5AK2 is located on chromosome 17p13.1 and is expressed in olfactory tissues, though its specific odorant ligands remain unidentified. The gene is part of the large OR gene repertoire, which is the largest gene family in the human genome, and may have roles beyond olfaction, including in sperm–egg interaction and cancer biology.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Olfactory transduction pathway (KEGG: hsa04740)

• GPCR downstream signaling (e.g.

• cAMP pathway)

OR5AK2 is a 312-amino acid protein with a typical GPCR structure, including seven transmembrane helices. It is predicted to localize to the plasma membrane and function as a receptor for odorant molecules, activating G protein-mediated signaling cascades. The protein shares high sequence similarity with other olfactory receptors, particularly in the transmembrane domains, which are crucial for ligand binding and signal transduction. Structural studies are limited, but homology models suggest a conserved binding pocket for volatile ligands.