Aliases for P2RX2 Gene
External Ids for P2RX2 Gene
Previous HGNC Symbols for P2RX2 Gene
Previous GeneCards Identifiers for P2RX2 Gene
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
GeneCards Summary for P2RX2 Gene
P2RX2 (Purinergic Receptor P2X 2) is a Protein Coding gene. Diseases associated with P2RX2 include Deafness, Autosomal Dominant 41 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Platelet homeostasis and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol binding. An important paralog of this gene is P2RX3.
UniProtKB/Swiss-Prot for P2RX2 Gene
Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.
P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.