Arginine vasopressin receptor 2

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Identifiers
Symbols AVPR2 ; ADHR; DI1; DIR; DIR3; MGC126533; MGC138386; NDI; V2R
External IDs OMIM: 300538 MGI88123 HomoloGene20064
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 554
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 12000

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000126895
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000031390

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P30518
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3KNZ4

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000054 (mRNA)
NP_000045 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_019404 (mRNA)
NP_062277 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 152.82 - 152.83 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 70.13 -  70.15 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

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

  1. 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


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