Aliases for AVPR2 Gene
External Ids for AVPR2 Gene
Previous HGNC Symbols for AVPR2 Gene
Previous GeneCards Identifiers for AVPR2 Gene
This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]
GeneCards Summary for AVPR2 Gene
AVPR2 (Arginine Vasopressin Receptor 2) is a Protein Coding gene. Diseases associated with AVPR2 include Nephrogenic Syndrome Of Inappropriate Antidiuresis and Diabetes Insipidus, Nephrogenic, X-Linked. Among its related pathways are Clathrin-mediated endocytosis and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and vasopressin receptor activity. An important paralog of this gene is AVPR1B.
UniProtKB/Swiss-Prot Summary for AVPR2 Gene
Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.
Vasopressin receptors are a group of G-protein-coupled receptors that mediate vasoconstriction, antidiuresis and ACTH release. They are currently divided into three subtypes, V1A, V1B and V2 and are closely related to oxytocin receptors (OT).