Gene:
arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)
Gene ID:
203004
Symbol:
AVPR2
Species:
1000
Description:
The human AVPR2 locus encodes the vasopressin receptor, type 2, also known as the V2 receptor. The AVPR2 protein product belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and it 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. AVPR2 expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing.