AVPR2 is expressed in the kidney tubule, predominantly in the membrane of cells of the distal convoluted tubule and collecting ducts, in fetallung tissue and lung cancer, the last two being associated with alternative splicing. AVPR2 is also expressed outside the kidney, and, when stimulated, can cause the release of Von Willebrand Factor from the Weibel-Palade Bodies in the endothelial cells of the vasculature. Because Von Willebrand Factor helps to stabilize circulating levels of factor VIII, the vasopressin analog, Desmopressin can be used to stimulate the AVPR2 receptor and increase levels of circulating factor VIII. This is useful in the treatment of Hemophilia A as well as Von Willebrand disease.
In the kidney, AVPR2's primary property is to respond to arginine vasopressin by stimulating mechanisms that concentrate the urine and maintain waterhomeostasis in the organism. When the function of AVPR2 is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results.
Arginine vasopressin receptor 2 has been shown to interact with C1QTNF1.[5]
References
↑van den Ouweland AM, Knoop MT, Knoers VV, Markslag PW, Rocchi M, Warren ST, Ropers HH, Fahrenholz F, Monnens LA, van Oost BA (Aug 1992). "Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region". Genomics. 13 (4): 1350–2. doi:10.1016/0888-7543(92)90067-3. PMID1324225.
↑Innamorati G, Whang MI, Molteni R, Le Gouill C, Birnbaumer M (Nov 2002). "GIP, a G-protein-coupled receptor interacting protein". Regulatory Peptides. 109 (1–3): 173–9. doi:10.1016/S0167-0115(02)00201-X. PMID12409230.
Further reading
Birnbaumer M (Aug 2001). "The V2 vasopressin receptor mutations and fluid homeostasis". Cardiovascular Research. 51 (3): 409–15. doi:10.1016/S0008-6363(01)00337-6. PMID11476731.
Ishikawa SE (Feb 2002). "[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2]". Nihon Rinsho. Japanese Journal of Clinical Medicine. 60 (2): 350–5. PMID11857925.
Robben JH, Knoers NV, Deen PM (Aug 2006). "Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus". American Journal of Physiology. Renal Physiology. 291 (2): F257–70. doi:10.1152/ajprenal.00491.2005. PMID16825342.
Pan Y, Metzenberg A, Das S, Jing B, Gitschier J (Oct 1992). "Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus". Nature Genetics. 2 (2): 103–6. doi:10.1038/ng1092-103. PMID1303257.
van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, Rocchi M, van Oost BA (Oct 1992). "Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus". Nature Genetics. 2 (2): 99–102. doi:10.1038/ng1092-99. PMID1303271.
van den Ouweland AM, Knoop MT, Knoers VV, Markslag PW, Rocchi M, Warren ST, Ropers HH, Fahrenholz F, Monnens LA, van Oost BA (Aug 1992). "Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region". Genomics. 13 (4): 1350–2. doi:10.1016/0888-7543(92)90067-3. PMID1324225.
Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus MF, Hendy GN, Birnbaumer M, Bichet DG (Sep 1992). "Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus". Nature. 359 (6392): 233–5. doi:10.1038/359233a0. PMID1356229.
Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W (May 1992). "Molecular cloning of the receptor for human antidiuretic hormone". Nature. 357 (6376): 333–5. doi:10.1038/357333a0. PMID1534149.
Lolait SJ, O'Carroll AM, McBride OW, Konig M, Morel A, Brownstein MJ (May 1992). "Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus". Nature. 357 (6376): 336–9. doi:10.1038/357336a0. PMID1534150.
Knoers N, van der Heyden H, van Oost BA, Monnens L, Willems J, Ropers HH (Apr 1989). "Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus". Genomics. 4 (3): 434–7. doi:10.1016/0888-7543(89)90352-2. PMID2714800.
Faà V, Ventruto ML, Loche S, Bozzola M, Podda R, Cao A, Rosatelli MC (Sep 1994). "Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus". Human Molecular Genetics. 3 (9): 1685–6. doi:10.1093/hmg/3.9.1685. PMID7833930.
Birnbaumer M, Gilbert S, Rosenthal W (Jul 1994). "An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system". Molecular Endocrinology. 8 (7): 886–94. doi:10.1210/me.8.7.886. PMID7984150.
Wenkert D, Merendino JJ, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM (Aug 1994). "Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus". Human Molecular Genetics. 3 (8): 1429–30. doi:10.1093/hmg/3.8.1429. PMID7987330.
Oksche A, Dickson J, Schülein R, Seyberth HW, Müller M, Rascher W, Birnbaumer M, Rosenthal W (Nov 1994). "Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus". Biochemical and Biophysical Research Communications. 205 (1): 552–7. doi:10.1006/bbrc.1994.2700. PMID7999078.
Yuasa H, Ito M, Oiso Y, Kurokawa M, Watanabe T, Oda Y, Ishizuka T, Tani N, Ito S, Shibata A (Aug 1994). "Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus". The Journal of Clinical Endocrinology and Metabolism. 79 (2): 361–5. doi:10.1210/jc.79.2.361. PMID8045948.