OR56A5 Gene: Function, Expression, and Clinical Significance | Biomedical Database

OR56A5 encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family. Olfactory receptors are primarily expressed in the cilia of olfactory sensory neurons, where they detect odorant molecules and initiate a signaling cascade that leads to the perception of smell. OR56A5 is part of the large olfactory receptor gene family, which is the largest gene family in the human genome. Although its specific odorant ligands are not fully characterized, it is presumed to play a role in chemosensory perception. Recent studies have also suggested potential ectopic expression in non-olfactory tissues, where it may contribute to various physiological and pathological processes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Olfactory transduction (KEGG: hsa04740)

• GPCR downstream signaling (Reactome: R-HSA-418594)

OR56A5 is a 312-amino acid protein with a typical GPCR structure, including seven transmembrane domains. It is localized to the plasma membrane and functions as a receptor for odorant molecules. Upon ligand binding, it activates G proteins, leading to the production of cAMP and subsequent ion channel opening, which generates an action potential in olfactory neurons. The protein is encoded by a single exon gene. Structural studies are limited, but homology models suggest conserved motifs common to olfactory receptors.