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20-September-2008 09:55:47 - Arginine vasopressin receptor 2 Identifiers Symbols AVPR2; ADHR; DI1; DIR; DIR3; MGC126533; MGC138386; NDI; V2R External IDs OMIM: 300538 MGI: 88123 HomoloGene: 20064 Gene ontology Molecular function: rhodopsin-like receptor activity Cellular component: endosome endoplasmic reticulum Golgi apparatus plasma membrane integral to plasma membrane membrane integral to membrane Biological process: signal transduction G-protein coupled receptor protein signaling pathway G-protein signaling, coupled to cAMP nucleotide second messenger adenylate cyclase activation excretion hemostasis biological_process Orthologs Human Mouse Entrez 554 12000 Ensembl ENSG00000126895 ENSMUSG00000031390 Uniprot P30518 Q3KNZ4 Refseq NM_000054 mRNA NP_000045 protein NM_019404 mRNA NP_062277 protein Location Chr X: 152.82 - 152.83 Mb Chr X: 70.13 - 70.15 Mb Pubmed search 1 2 Arginine vasopressin receptor 2 AVPR2, also called V2 receptor 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 Gs type of G proteins, which stimulate adenylate cyclase. AVPR2 is expressed in the kidney tubule, predominantly in 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 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. References ^ van den Ouweland AM, Knoop MT, Knoers VV, Markslag PW, Rocchi M, Warren ST, Ropers HH, Fahrenholz F, Monnens LA, van Oost BA 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. PMID 1324225. Further reading Birnbaumer M 2001. The V2 vasopressin receptor mutations and fluid homeostasis.. Cardiovasc. Res. 51 3: 409-15. PMID 11476731. Ishikawa SE 2002. Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2. Nippon Rinsho 60 2: 350-5. PMID 11857925. Thibonnier M, Coles P, Thibonnier A, Shoham M 2002. Molecular pharmacology and modeling of vasopressin receptors.. Prog. Brain Res. 139: 179-96. PMID 12436935. Bichet DG 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 2006. Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.. Am. J. Physiol. Renal Physiol. 291 2: F257-70. doi:10.1152/ajprenal.00491.2005. PMID 16825342. Pan Y, Metzenberg A, Das S, et al. 1993. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.. Nat. Genet. 2 2: 103-6. doi:10.1038/ng1092-103. PMID 1303257. van den Ouweland AM, Dreesen JC, Verdijk M, et al. 1993. Mutations in the vasopressin type 2 receptor gene AVPR2 associated with nephrogenic diabetes insipidus.. Nat. Genet. 2 2: 99-102. doi:10.1038/ng1092-99. PMID 1303271. van den Ouweland AM, Knoop MT, Knoers VV, et al. 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. PMID 1324225. Rosenthal W, Seibold A, Antaramian A, et al. 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 1992. Structure and chromosomal localization of the human antidiuretic hormone receptor gene.. Am. J. Hum. Genet. 51 5: 1078-83. PMID 1415251. Birnbaumer M, Seibold A, Gilbert S, et al. 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, et al. 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, et al. 1989. Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.. Genomics 4 3: 434-7. PMID 2714800. Tsukaguchi H, Matsubara H, Taketani S, et al. 1995. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.. J. Clin. Invest. 96 4: 2043-50. PMID 7560098. Faà V, Ventruto ML, Loche S, et al. 1995. Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.. Hum. Mol. Genet. 3 9: 1685-6. PMID 7833930. Birnbaumer M, Gilbert S, Rosenthal W 1995. 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.. Mol. Endocrinol. 8 7: 886-94. PMID 7984150. Wenkert D, Merendino JJ, Shenker A, et al. 1995. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.. Hum. Mol. Genet. 3 8: 1429-30. PMID 7987330. Oksche A, Dickson J, Schülein R, et al. 1995. Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.. Biochem. Biophys. Res. Commun. 205 1: 552-7. doi:10.1006/bbrc.1994.2700. PMID 7999078. Bichet DG, Birnbaumer M, Lonergan M, et al. 1994. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.. Am. J. Hum. Genet. 55 2: 278-86. PMID 8037205. Yuasa H, Ito M, Oiso Y, et al. 1994. Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.. J. Clin. Endocrinol. Metab. 79 2: 361-5. PMID 8045948. External links IUPHAR GPCR Database - Arginine vasopressin receptor V2 v d e Transmembrane receptor: G protein-coupled receptors Class A: Rhodopsin like Adrenergic α1 A, B, D, α2 A, B, C, β1, β2, β3 Eicosanoid CysLT 1, 2, LTB4 1, 2, FPRL1, OXE, Prostaglandin DP, EP 1, 2, 3, 4, PGF, Prostacyclin, Thromboxane Neuropeptide B/W 1, 2, FF 1, 2, S, Y 1, 2, 4, 5 Orphan GPR 1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 79, 82, 83, 84, 85, 87, 88, 92, 101, 103, 119, 120, 132, 135, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 172, 173, 174, 176, 177, 182 Purinergics Adenosine A1, A2a, A2b, A3, P2Y, 1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14 Serotonin all but 5-HT3 5-HT1 A, B, D, E, F, 5-HT2 A, B, C, 5-HT 4, 5A, 6, 7 Other Acetylcholine M1, M2, M3, M4, M5 - Adrenomedullin - Anaphylatoxin C3a, C5a - Angiotensin 1, 2 - Apelin - Bile acid - Bombesin BRS3, GRPR, NMBR - Bradykinin B1, B2 - Cannabinoid CB1, CB2 - Chemokine - Cholecystokinin A, B - Dopamine D1, D2, D3, D4, D5 - EBI2 - Endothelin A, B - Estrogen - Formyl peptide 1, L1, L2 - Free fatty acid 1, 2, 3, 4 - FSH - Galanin 1, 2, 3 - Gonadotropin-releasing hormone 1, 2 - Ghrelin - Histamine H1, H2, H3, H4 - Kisspeptin - Luteinizing hormone/choriogonadotropin - Lysophospholipid 1, 2, 3, 4, 5, 6, 7, 8 - MAS 1, 1L, D, E, F, G, X1, X2, X3, X4 - Melanocortin 1, 2, 3, 4, 5 - MCHR 1, 2 - Melatonin 1A, 1B- Motilin - neuromedin B, U 1, 2 - Neurotensin 1, 2 - Opioid Delta, Kappa, Mu, Nociceptin, but not Sigma - Olfactory - Opsin 3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH - Orexin 1, 2 - Oxytocin - Oxoglutarate - PAF - Prokineticin 1, 2 - Prolactin-releasing peptide - Protease-activated 1, 2, 3, 4 - Relaxin 1, 2, 3, 4 - Somatostatin 1, 2, 3, 4, 5 - SREB - Succinate - TAAR 1, 2, 3, 5, 6, 8, 9 - Tachykinin 1, 2, 3 - Thyrotropin - Thyrotropin-releasing hormone - Urotensin-II - Vasopressin 1A, 1B, 2 Class B: Secretin like Brain-specific angiogenesis inhibitor 1, 2, 3 - Cadherin 1, 2, 3 - Calcitonin - CD97 - Corticotropin-releasing hormone 1, 2 - EMR 1, 2, 3 - Glucagon GR, GIPR, GLP1R, GLP2R - Growth hormone releasing hormone - PACAPR1- GPR 56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 157 - Latrophilin 1, 2, 3, ELTD1 - Parathyroid hormone 1, 2 - Secretin - Vasoactive intestinal peptide 1, 2 Class C: Metabotropic glutamate / pheromone Calcium-sensing receptor - GABA B 1, 2 - Glutamate receptor Metabotropic glutamate 1, 2, 3, 4, 5, 6, 7, 8 - GPRC6A - GPR 156, 158, 179 - RAIG 1, 2, 3, 4 - Taste receptors TAS1R 1, 2, 3 TAS2R 1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 38, 39, 40, 41, 43, 44, 45, 46, 47, 48, 49, 50 Frizzled / Smoothened Frizzled 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 - Smoothened v d e Neuropeptide receptors Hypothalamic hormone receptors CRH - FSH - LHRH - TRH - Somatostatin Pituitary hormone receptors Vasopressin 1A, 1B, 2 - Oxytocin - LHCG - Type I cytokine receptor GH, Prolactin - TSH Other hormone receptors Atrial natriuretic factor - Calcitonin - Cholecystokinin A, B - VIP Opioid receptors Delta - Kappa - Mu - Sigma 1, 2 - Nociceptin Other neuropeptide receptors Angiotensin - Bradykinin B1, B2 / Tachykinin TACR1 - Calcitonin gene-related peptide - Galanin - GPCR neuropeptide B/W, FF, S, Y - Neurotensin This transmembrane receptor-related article is a stub. Retrieved from http://en..org/wiki/Arginine_vasopressin_receptor_2 Categories: Genes on chromosome X | Human proteins | G protein coupled receptors | Cell signaling | Signal transduction | Transmembrane receptor stubsHidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 20 July 2008, at 08:33
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