AVPR2: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. Defects in AVPR2 are the cause of nephrogenic syndrome of inappropriate antidiuresis (NSIAD). This disorder is characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. Defects in AVPR2 are the cause of diabetes insipidus nephrogenic X-linked (XNDI); also known as diabetes insipidus nephrogenic type 1. XNDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Transporter; GPCR, family 1; Transporter, aquaporin family; Receptor, GPCR; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: endoplasmic reticulum; endosome; Golgi apparatus; integral to membrane; integral to plasma membrane; plasma membrane
Molecular Function: peptide binding; protein binding; vasopressin receptor activity
Biological Process: adenylate cyclase activation; cellular response to hormone stimulus; excretion; G-protein signaling, coupled to cAMP nucleotide second messenger; hemostasis; I-kappaB kinase/NF-kappaB cascade; interferon-gamma production; positive regulation of cell proliferation; positive regulation of protein ubiquitination; positive regulation of systemic arterial blood pressure; positive regulation of vasoconstriction; regulation of systemic arterial blood pressure by vasopressin; renal water homeostasis; response to cytokine stimulus; telencephalon development
Disease: Diabetes Insipidus, Nephrogenic, X-linked; Nephrogenic Syndrome Of Inappropriate Antidiuresis
Show more