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Showing Protein Vasopressin V2 receptor (HMDBP01725)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 4 metabolites
Identification
HMDB Protein ID HMDBP01725
Secondary Accession Numbers
  • 7069
Name Vasopressin V2 receptor
Synonyms
  1. AVPR V2
  2. Antidiuretic hormone receptor
  3. Renal-type arginine vasopressin receptor
  4. V2R
Gene Name AVPR2
Protein Type Enzyme
Biological Properties
General Function Involved in G-protein coupled receptor protein signaling pathway
Specific Function Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase
Pathways
  • Vasopressin Regulation of Water Homeostasis
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
receptor activity
vasopressin receptor activity
molecular transducer activity
signal transducer activity
peptide receptor activity
peptide receptor activity, g-protein coupled
Process
signaling
signaling pathway
cell surface receptor linked signaling pathway
g-protein coupled receptor protein signaling pathway
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs AVPR2
Gene Sequence 
>1116 bp
ATGCTCATGGCGTCCACCACTTCCGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCC
AGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAG
CTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCG
GCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCAC
TTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAG
GCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATG
GTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCC
ATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTG
CTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAG
CGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGG
GGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGT
ATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCA
TCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCC
CACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTAT
GTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCA
CCTCTGGAAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACC
AACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTC
TGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACC
GCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGA
Protein Properties
Number of Residues 371
Molecular Weight 40278.6
Theoretical pI 9.41
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 39-63
  • 78-98
  • 114-135
  • 160-180
  • 201-220
  • 272-293
  • 309-328
Protein Sequence 
>Vasopressin V2 receptor
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLA
ALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQM
VGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQ
RNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTT
ASSSLAKDTSS
GenBank ID Protein 28418
UniProtKB/Swiss-Prot ID P30518
UniProtKB/Swiss-Prot Entry Name V2R_HUMAN
PDB IDs Not Available
GenBank Gene ID Z11687
GeneCard ID AVPR2
GenAtlas ID AVPR2
HGNC ID HGNC:897
References
General References
  1. 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. [PubMed:15489334 ]
  2. 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. [PubMed:16959974 ]
  3. 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. [PubMed:9581826 ]
  4. 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. [PubMed:1415251 ]
  5. 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. [PubMed:1534149 ]
  6. 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. [PubMed:7913579 ]
  7. 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. [PubMed:8735975 ]
  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. [PubMed:8882880 ]
  9. Sadeghi HM, Innamorati G, Dagarag M, Birnbaumer M: Palmitoylation of the V2 vasopressin receptor. Mol Pharmacol. 1997 Jul;52(1):21-9. [PubMed:9224808 ]
  10. 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. [PubMed:1356229 ]
  11. 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. [PubMed:1303271 ]
  12. 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. [PubMed:1303257 ]
  13. 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. [PubMed:8267567 ]
  14. 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. [PubMed:8479490 ]
  15. 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. [PubMed:8514744 ]
  16. 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. [PubMed:8037205 ]
  17. 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. [PubMed:7999078 ]
  18. 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. [PubMed:7987330 ]
  19. 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. [PubMed:7833930 ]
  20. 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. [PubMed:8045948 ]
  21. 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. [PubMed:7984150 ]
  22. 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. [PubMed:8078903 ]
  23. 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. [PubMed:7560098 ]
  24. 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. [PubMed:9402087 ]
  25. 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. [PubMed:9452109 ]
  26. 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. [PubMed:10694923 ]
  27. 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. [PubMed:9711877 ]
  28. 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. [PubMed:10770218 ]
  29. 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. [PubMed:11026555 ]
  30. 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. [PubMed:11232028 ]
  31. 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. [PubMed:11916004 ]
  32. 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. [PubMed:15872203 ]
  33. 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. [PubMed:16845277 ]