Aliases for AQP4 Gene
External Ids for AQP4 Gene
Previous GeneCards Identifiers for AQP4 Gene
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
GeneCards Summary for AQP4 Gene
AQP4 (Aquaporin 4) is a Protein Coding gene. Diseases associated with AQP4 include Neuromyelitis Optica and Optic Neuritis. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and glycerol channel activity. An important paralog of this gene is AQP5.
UniProtKB/Swiss-Prot for AQP4 Gene
Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.
Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.