Vasopressin V2 receptor

Details

Name
Vasopressin V2 receptor
Synonyms
  • ADHR
  • Antidiuretic hormone receptor
  • AVPR V2
  • DIR
  • DIR3
  • Renal-type arginine vasopressin receptor
  • V2R
Gene Name
AVPR2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0000583|Vasopressin V2 receptor
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLA
ALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQM
VGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQ
RNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTT
ASSSLAKDTSS
Number of residues
371
Molecular Weight
40278.57
Theoretical pI
9.41
GO Classification
Functions
peptide binding / vasopressin receptor activity
Processes
activation of adenylate cyclase activity / adenylate cyclase-modulating G-protein coupled receptor signaling pathway / cellular response to hormone stimulus / excretion / hemostasis / I-kappaB kinase/NF-kappaB signaling / interferon-gamma production / 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 / positive regulation of vasoconstriction / regulation of systemic arterial blood pressure by vasopressin / renal water homeostasis / response to cytokine / response to peptide / telencephalon development / transmembrane transport / water transport
Components
endoplasmic reticulum / endosome / Golgi apparatus / integral component of membrane / integral component of plasma membrane / plasma membrane
General Function
Vasopressin receptor activity
Specific Function
Receptor 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 Regions
39-63 78-98 114-135 160-180 201-220 272-293 309-328
Cellular Location
Cell 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
Chromosome Location
X
Locus
Xq28
External Identifiers
ResourceLink
UniProtKB IDP30518
UniProtKB Entry NameV2R_HUMAN
GenBank Protein ID28418
GenBank Gene IDU04357
GenAtlas IDAVPR2
HGNC IDHGNC:897
General 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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
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  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. [Article]
  9. Sadeghi HM, Innamorati G, Dagarag M, Birnbaumer M: Palmitoylation of the V2 vasopressin receptor. Mol Pharmacol. 1997 Jul;52(1):21-9. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
  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. [Article]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00067VasopressinapprovedyesagonistregulatorDetails
DB00872Conivaptanapproved, investigationalyesantagonistDetails
DB02638Terlipressinapproved, investigationalyesagonistDetails
DB05091M0002investigationalunknownDetails
DB05838OPC-51803investigationalunknownDetails
DB06212TolvaptanapprovedyesantagonistDetails
DB00035DesmopressinapprovedyesagonistDetails
DB09059Atosibanapproved, investigationalunknownantagonistDetails
DB14642LypressinapprovedyesDetails
DB00618DemeclocyclineapprovedunknowninhibitorDetails
DB16279PecavaptaninvestigationalunknownantagonistDetails