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. Note: This description may include information from UniProtKB.
Protein type: GPCR, family 1; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR; Transporter; Transporter, aquaporin family
Chromosomal Location of Human Ortholog: Xq28
Cellular Component:  clathrin-coated vesicle membrane; endoplasmic reticulum; endosome; Golgi apparatus; integral component of membrane; plasma membrane
Molecular Function:  protein binding; vasopressin receptor activity
Biological Process:  activation of adenylate cyclase activity; adenylate cyclase-modulating G protein-coupled receptor signaling pathway; excretion; G protein-coupled receptor signaling pathway; hemostasis; I-kappaB kinase/NF-kappaB signaling; interferon-gamma production; membrane organization; negative regulation of renal sodium excretion; negative regulation of urine volume; positive regulation of cell proliferation; positive regulation of gene expression; positive regulation of protein ubiquitination; positive regulation of systemic arterial blood pressure; renal water homeostasis; response to cytokine; telencephalon development
Disease: Diabetes Insipidus, Nephrogenic, X-linked; Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reference #:  P30518 (UniProtKB)
Alt. Names/Synonyms: ADHR; Antidiuretic hormone receptor; arginine vasopressin receptor 2; AVPR V2; AVPR2; DI1; DIR; DIR3; MGC126533; MGC138386; NDI; Renal-type arginine vasopressin receptor; V2R; Vasopressin V2 receptor
Gene Symbols: AVPR2
Molecular weight: 40,279 Da
Basal Isoelectric point: 9.49  Predict pI for various phosphorylation states
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AVPR2

Protein Structure Not Found.


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