Vasopressin V2 receptor

NameVasopressin V2 receptor
Synonyms
  • ADHR
  • Antidiuretic hormone receptor
  • AVPR V2
  • DIR
  • DIR3
  • Renal-type arginine vasopressin receptor
  • V2R
Gene NameAVPR2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000583|Vasopressin V2 receptor
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLA
ALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQM
VGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQ
RNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTT
ASSSLAKDTSS
Number of residues371
Molecular Weight40278.57
Theoretical pI9.41
GO Classification
Functions
  • peptide binding
  • vasopressin receptor activity
Processes
  • I-kappaB kinase/NF-kappaB signaling
  • interferon-gamma production
  • negative regulation of renal sodium excretion
  • transmembrane transport
  • negative regulation of urine volume
  • activation of adenylate cyclase activity
  • positive regulation of protein ubiquitination
  • positive regulation of cell proliferation
  • renal water homeostasis
  • response to cytokine
  • cellular response to hormone stimulus
  • water transport
  • regulation of systemic arterial blood pressure by vasopressin
  • positive regulation of systemic arterial blood pressure
  • positive regulation of vasoconstriction
  • response to peptide
  • hemostasis
  • telencephalon development
  • excretion
  • positive regulation of gene expression
  • adenylate cyclase-modulating G-protein coupled receptor signaling pathway
Components
  • integral component of membrane
  • integral component of plasma membrane
  • endosome
  • endoplasmic reticulum
  • plasma membrane
  • Golgi apparatus
General FunctionVasopressin receptor activity
Specific FunctionReceptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.
Pfam Domain Function
Transmembrane Regions39-63 78-98 114-135 160-180 201-220 272-293 309-328
GenBank Protein ID28418
UniProtKB IDP30518
UniProtKB Entry NameV2R_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0010065|Vasopressin V2 receptor (AVPR2)
ATGCTCATGGCGTCCACCACTTCCGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCC
AGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAG
CTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCG
GCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCAC
TTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAG
GCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATG
GTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCC
ATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTG
CTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAG
CGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGG
GGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGT
ATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCA
TCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCC
CACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTAT
GTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCA
CCTCTGGAAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACC
AACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTC
TGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACC
GCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGA
GenBank Gene IDU04357
GeneCard IDNot Available
GenAtlas IDAVPR2
HGNC IDHGNC:897
Chromosome LocationX
LocusXq28
References
  1. Seibold A, Brabet P, Rosenthal W, Birnbaumer M: Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet. 1992 Nov;51(5):1078-83. 1415251
  2. Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W: Molecular cloning of the receptor for human antidiuretic hormone. Nature. 1992 May 28;357(6376):333-5. 1534149
  3. Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):266-77. 7913579
  4. Fay MJ, Du J, Yu X, North WG: Evidence for expression of vasopressin V2 receptor mRNA in human lung. Peptides. 1996;17(3):477-81. 8735975
  5. North WG, Fay MJ, Longo KA, Du J: Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide. Cancer Res. 1998 May 1;58(9):1866-71. 9581826
  6. Boselt I, Rompler H, Hermsdorf T, Thor D, Busch W, Schulz A, Schoneberg T: Involvement of the V2 vasopressin receptor in adaptation to limited water supply. PLoS One. 2009;4(5):e5573. doi: 10.1371/journal.pone.0005573. Epub 2009 May 18. 19440390
  7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  8. Oksche A, Moller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W: Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum Genet. 1996 Nov;98(5):587-9. 8882880
  9. Sadeghi HM, Innamorati G, Dagarag M, Birnbaumer M: Palmitoylation of the V2 vasopressin receptor. Mol Pharmacol. 1997 Jul;52(1):21-9. 9224808
  10. Shea FF, Rowell JL, Li Y, Chang TH, Alvarez CE: Mammalian alpha arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with beta arrestins. PLoS One. 2012;7(12):e50557. doi: 10.1371/journal.pone.0050557. Epub 2012 Dec 7. 23236378
  11. Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus MF, Hendy GN, Birnbaumer M, Bichet DG: Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature. 1992 Sep 17;359(6392):233-5. 1356229
  12. van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, Rocchi M, van Oost BA: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet. 1992 Oct;2(2):99-102. 1303271
  13. Pan Y, Metzenberg A, Das S, Jing B, Gitschier J: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet. 1992 Oct;2(2):103-6. 1303257
  14. Tsukaguchi H, Matsubara H, Aritaki S, Kimura T, Abe S, Inada M: Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochem Biophys Res Commun. 1993 Dec 15;197(2):1000-10. 8267567
  15. Holtzman EJ, Harris HW Jr, Kolakowski LF Jr, Guay-Woodford LM, Botelho B, Ausiello DA: Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. N Engl J Med. 1993 May 27;328(21):1534-7. 8479490
  16. Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M: Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem. 1993 Jun 25;268(18):13030-3. 8514744
  17. Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al.: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):278-86. 8037205
  18. Oksche A, Dickson J, Schulein R, Seyberth HW, Muller M, Rascher W, Birnbaumer M, Rosenthal W: Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. Biochem Biophys Res Commun. 1994 Nov 30;205(1):552-7. 7999078
  19. Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM: Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Aug;3(8):1429-30. 7987330
  20. Faa V, Ventruto ML, Loche S, Bozzola M, Podda R, Cao A, Rosatelli MC: Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Sep;3(9):1685-6. 7833930
  21. Yuasa H, Ito M, Oiso Y, Kurokawa M, Watanabe T, Oda Y, Ishizuka T, Tani N, Ito S, Shibata A, et al.: Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus. J Clin Endocrinol Metab. 1994 Aug;79(2):361-5. 8045948
  22. Birnbaumer M, Gilbert S, Rosenthal W: 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. 1994 Jul;8(7):886-94. 7984150
  23. Friedman E, Bale AE, Carson E, Boson WL, Nordenskjold M, Ritzen M, Ferreira PC, Jammal A, De Marco L: Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci U S A. 1994 Aug 30;91(18):8457-61. 8078903
  24. Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J Clin Invest. 1995 Oct;96(4):2043-50. 7560098
  25. Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1997 Dec;8(12):1855-62. 9402087
  26. Shoji Y, Takahashi T, Suzuki Y, Suzuki T, Komatsu K, Hirono H, Shoji Y, Yokoyama T, Kito H, Takada G: Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides. Hum Mutat. 1998;Suppl 1:S278-83. 9452109
  27. Szalai C, Triga D, Czinner A: C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online. Hum Mutat. 1998;12(2):137-8. 10694923
  28. Schoneberg T, Schulz A, Biebermann H, Gruters A, Grimm T, Hubschmann K, Filler G, Gudermann T, Schultz G: V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. Hum Mutat. 1998;12(3):196-205. 9711877
  29. Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jaaskelainen J, Gruters A, Filler G, Schoneberg T: Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J Clin Endocrinol Metab. 2000 Apr;85(4):1703-10. 10770218
  30. Postina R, Ufer E, Pfeiffer R, Knoers NV, Fahrenholz F: Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus. Mol Cell Endocrinol. 2000 Jun;164(1-2):31-9. 11026555
  31. Inaba S, Hatakeyama H, Taniguchi N, Miyamori I: The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. J Clin Endocrinol Metab. 2001 Jan;86(1):381-5. 11232028
  32. Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ: Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. J Hum Genet. 2002;47(2):66-73. 11916004
  33. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE: Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005 May 5;352(18):1884-90. 15872203
  34. Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF: Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med. 2006 Jul;8(7):443-7. 16845277
  35. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. 16959974