Arginine vasopressin receptor 2

Arginine vasopressin receptor 2
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4JQI​
Identifiers
Symbols	AVPR2 ; ADHR; DI1; DIR; DIR3; NDI; V2R
External IDs	OMIM: 300538 MGI: 88123 HomoloGene: 20064 IUPHAR: 368 ChEMBL: 1790 GeneCards: AVPR2 Gene
Gene ontology Molecular function • vasopressin receptor activity • protein binding • peptide binding Cellular component • endosome • endoplasmic reticulum • Golgi apparatus • plasma membrane • integral component of plasma membrane • integral component of membrane Biological process • regulation of systemic arterial blood pressure by vasopressin • positive regulation of systemic arterial blood pressure • renal water homeostasis • water transport • adenylate cyclase-modulating G-protein coupled receptor signaling pathway • activation of adenylate cyclase activity • I-kappaB kinase/NF-kappaB signaling • excretion • hemostasis • positive regulation of cell proliferation • positive regulation of gene expression • telencephalon development • positive regulation of protein ubiquitination • interferon-gamma production • cellular response to hormone stimulus • response to cytokine • negative regulation of urine volume • negative regulation of renal sodium excretion • positive regulation of vasoconstriction • transmembrane transport • response to peptide Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	554	12000
Ensembl	ENSG00000126895	ENSMUSG00000031390
UniProt	P30518	O88721
RefSeq (mRNA)	NM_000054	NM_001276298
RefSeq (protein)	NP_000045	NP_001263227
Location (UCSC)	Chr X: 153.9 – 153.91 Mb	Chr X: 73.89 – 73.9 Mb
PubMed search

Arginine vasopressin receptor 2 (officially abbreviated AVPR2) is a protein that acts as receptor for arginine vasopressin.^[1] AVPR2 belongs to the subfamily of G-protein-coupled receptors. Its activity is mediated by the G_s type of G proteins, which stimulate adenylate cyclase.

AVPR2 is expressed in the kidney tubule, predominantly in the membrane of cells of the distal convoluted tubule and collecting ducts, in fetal lung tissue and lung cancer, the last two being associated with alternative splicing. AVPR2 is also expressed outside the kidney, and, when stimulated, a variety of clotting factors are released into the bloodstream.

In the kidney, AVPR2's primary property is to respond to arginine vasopressin by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of AVPR2 is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results.

Antagonists

Vasopressin receptor antagonists that are selective for the V2 receptor include:

• Tolvaptan (FDA-approved)
• Lixivaptan
• Mozavaptan
• Satavaptan

Their main uses are in hyponatremia, such as that caused by syndrome of inappropriate antidiuretic hormone (SIADH) and heart failure, however these agents should be avoided in patients with cirrhosis.^[2]

Demeclocycline and lithium carbonate act as indirect antagonists of renal vasopressin V₂ receptors by inhibiting activation of the second messenger cascade of the receptors.^[3][4]

Interactions

Arginine vasopressin receptor 2 has been shown to interact with C1QTNF1.^[5]

References

1. 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. PMID 1324225.
2. "SAMSCA (tolvaptan) prescribing information" (PDF). US Food and Drug Administration.
3. Ajay K. Singh, Gordon H. Williams (12 January 2009). Textbook of Nephro-Endocrinology. Academic Press. pp. 250–251. ISBN 978-0-08-092046-7.
4. L. Kovács, B. Lichardus (6 December 2012). Vasopressin: Disturbed Secretion and Its Effects. Springer Science & Business Media. pp. 179–180. ISBN 978-94-009-0449-1.
5. 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. PMID 12409230.

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. PMID 11476731.
• 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. PMID 11857925.
• Thibonnier M, Coles P, Thibonnier A, Shoham M (2002). "Molecular pharmacology and modeling of vasopressin receptors". Progress in Brain Research 139: 179–96. doi:10.1016/S0079-6123(02)39016-2. PMID 12436935.
• Bichet DG (Apr 2006). "Nephrogenic diabetes insipidus". Advances in Chronic Kidney Disease 13 (2): 96–104. doi:10.1053/j.ackd.2006.01.006. PMID 16580609.
• 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. PMID 16825342.
• 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. PMID 1303257.
• 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. PMID 1303271.
• 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. PMID 1324225.
• 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. PMID 1356229.
• Seibold A, Brabet P, Rosenthal W, Birnbaumer M (Nov 1992). "Structure and chromosomal localization of the human antidiuretic hormone receptor gene". American Journal of Human Genetics 51 (5): 1078–83. PMC 1682836. PMID 1415251.
• 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. PMID 1534149.
• 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. PMID 1534150.
• 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. PMID 2714800.
• Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M (Oct 1995). "Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus". The Journal of Clinical Investigation 96 (4): 2043–50. doi:10.1172/JCI118252. PMC 185843. PMID 7560098.
• 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. PMID 7833930.
• 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. PMID 7984150.
• 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. PMID 7987330.
• 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. PMID 7999078.
• Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S (Aug 1994). "Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus". American Journal of Human Genetics 55 (2): 278–86. PMC 1918376. PMID 8037205.
• 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. PMID 8045948.

External links

• GeneReviews/NCBI/NIH/UW entry on Nephrogenic Diabetes Insipidus
• "Symbol Report: AVPR2". Human Geneome Organization Gene Nomenclature Committee.
• "Vasopressin and Oxytocin Receptors: V₂". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.