PTAFR Gene: Platelet Activating Factor Receptor – Function, Mutations, and Disease Associations

PTAFR encodes the platelet-activating factor receptor, a G protein-coupled receptor that binds platelet-activating factor (PAF). Activation of this receptor triggers intracellular signaling cascades involving phospholipase C, calcium mobilization, and MAP kinase pathways, leading to platelet aggregation, inflammation, smooth muscle contraction, and vascular permeability. The receptor is expressed on platelets, neutrophils, monocytes, macrophages, and endothelial cells, and plays a critical role in allergic and inflammatory responses.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• PAF signaling pathway

• GPCR downstream signaling

• Inflammatory mediator regulation of TRP channels

• Calcium signaling pathway

The platelet-activating factor receptor (UniProt P25105) is a 342-amino acid integral membrane protein with seven transmembrane domains characteristic of G protein-coupled receptors. It is activated by nanomolar concentrations of PAF, leading to Gq/11-mediated phospholipase C activation, inositol trisphosphate production, and intracellular calcium release. The receptor undergoes agonist-induced desensitization and internalization. Post-translational modifications include N-glycosylation at Asn10 and Asn24, which are important for cell surface expression.