Aliases for P2RX6 Gene
External Ids for P2RX6 Gene
Previous HGNC Symbols for P2RX6 Gene
Previous GeneCards Identifiers for P2RX6 Gene
The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
GeneCards Summary for P2RX6 Gene
P2RX6 (Purinergic Receptor P2X 6) is a Protein Coding gene. Diseases associated with P2RX6 include Schizophrenia 5 and Heparin Cofactor Ii Deficiency. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Platelet homeostasis. Gene Ontology (GO) annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is P2RX5.
UniProtKB/Swiss-Prot Summary for P2RX6 Gene
Receptor for ATP that acts as a ligand-gated ion channel.
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.