P2RX4

Description

The P2RX4 (purinergic receptor P2X 4) is a protein-coding gene located on chromosome 12.

P2X purinoceptor 4 is a protein that in humans is encoded by the P2RX4 gene. It is a member of the P2X receptor family, which are trimeric protein complexes that can be homomeric or heteromeric. These receptors are ligand-gated cation channels that open in response to ATP binding. Each receptor subtype, determined by the subunit composition, varies in its affinity to ATP and desensitization kinetics. The P2X4 receptor is the homotrimer composed of three P2X4 monomers. They are nonselective cation channels with high calcium permeability, leading to the depolarization of the cell membrane and the activation of various Ca2+-sensitive intracellular processes. The P2X4 receptor is uniquely expressed on lysosomal compartments as well as the cell surface. The receptor is found in the central and peripheral nervous systems, in the epithelia of ducted glands and airways, in the smooth muscle of the bladder, gastrointestinal tract, uterus, and arteries, in uterine endometrium, and in fat cells. P2X4 receptors have been implicated in the regulation of cardiac function, ATP-mediated cell death, synaptic strengthening, and activating of the inflammasome in response to injury.

P2RX4 is an ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium. It is activated by extracellularly released ATP and plays a key role in immunity and central nervous system physiology. P2RX4 is involved in the initial steps of T-cell activation and Ca(2+) microdomain formation. It also participates in basal T-cell activity without TCR/CD3 stimulation. P2RX4 promotes the differentiation and activation of Th17 cells via expression of retinoic acid-related orphan receptor C/RORC. Upon activation, it drives microglia motility via the PI3K/Akt pathway. P2RX4 could also function as an ATP-gated cation channel of lysosomal membranes.

P2RX4 is also known as P2X4, P2X4R.

Associated Diseases

• type 2 diabetes mellitus
• cancer
• schizophrenia
• alpha thalassemia-intellectual disability syndrome type 1
• familial idiopathic steroid-resistant nephrotic syndrome
• hemoglobin D disease
• Heinz body anemia
• delta-beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome