Recombinant Human Vasopressin V2 receptor (AVPR2)

1. Being a rapid diagnostic tool for congenital nephrogenic diabetes insipidus , direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to congenital nephrogenic diabetes insipidus. PMID: 29594432
2. A novel 22.1-kb deletion in AVPR2 was identified, leading to X-linked nephrogenic diabetes insipidus in a Chinese pedigree. PMID: 29394883
3. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression. PMID: 29125546
4. Data found Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking PMID: 27355191
5. An overview of AVPR2 mutations in genetic forms of nephrogenic diabetes insipidus (review) PMID: 27156763
6. this case report describes a case of congenital nephrogenic diabetes insipidus with an AVPR2 gene I324M missense mutation; this is the first report of this mutation in patients with congenital nephrogenic diabetes insipidus PMID: 27565746
7. the canceling of the desensitization effect of OPC51803 by the pharmacochaperone effect after long-term treatment may produce sustainable signaling, and thus pharmacochaperone agonists such as OPC51803 may serve as promising therapeutics for NDI caused by misfolded V2R mutants. PMID: 27601473
8. AVPR2 missense mutation is associated with nephrogenic diabetes insipidus. PMID: 26974133
9. Data suggest that the congenital congenital nephrogenic diabetes insipidus (NDI) in the patient, his mother and grandmother was probably due to mutation of the arginine vasopressin receptor 2 (AVPR2) gene. PMID: 27577218
10. a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers. PMID: 26795631
11. A heterozygous deletion in exon 1 of the AVPR2 gene is associated with nephrogenic diabetes insipidus. PMID: 26244674
12. In this study, we identified and characterized a new gain-of function mutation of the V2R, which leads to nephrogenic syndrome of inappropriate diuresis. PMID: 26131744
13. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. PMID: 27117808
14. Rescue of the N321K-V2R function by Val(4)-desmopressin action in nephrogenic diabetes insipidus. PMID: 24628417
15. X-linked nephrogenic diabetes insipidus and severity of illness in this family is caused by a novel deletion in the AVPR2 gene PMID: 24026507
16. AVP acting at V2R does not appear to regulate water losses from body fluids other than renal excretion during exercise. PMID: 24944242
17. This review summarizes some of the unexpected roles of V2R signaling and suggests that vasopressin signaling itself may contribute crucially to loss of polarity and enhanced proliferation in cystic kidney epithelium. PMID: 24556353
18. 52 disease-causing mutations of AVPR2 were identified. missense mutations were most common (54%), followed by deletion mutations. 64 women who had monoallelic disease-causing AVPR2 mutations, 16 had NDI symptoms, including 4 complete NDI subjects PMID: 23150186
19. Three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V) may be related to nephrogenic syndrome of inappropriate antidiuresis and to nephrogenic diabetes insipidus. PMID: 23762448
20. vasopressin receptor type 2 signaling is controlled by retromer and arrestin in a noncanonical regulatory pathway PMID: 23935101
21. The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation. PMID: 19816050
22. No pathological variants affecting R137 were detected among the 5,142 AVPR2 alleles successfully genotyped. Even at the population extremes of serum sodium distribution, we estimate minor allele frequency PMID: 23362144
23. crystal structure of beta-arrestin-1 (also called arrestin-2) in complex with a fully phosphorylated 29-amino-acid carboxy-terminal peptide derived from the human V2 vasopressin receptor (V2Rpp) PMID: 23604254
24. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2. PMID: 23364801
25. Of the 15 patients with diabetes insipidus eight patients have AVPR2 mutations PMID: 22644838
26. X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers was caused by a novel contiguous deletion of 17,905 bp of the entire AVPR2 gene and intron 7 of the ARHGAP4 gene. PMID: 22965914
27. The deletion mechanisms in the AVPR2 region do not follow the rules of non-allelic homologous recombination. Review. PMID: 22879391
28. In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial nephrogenic diabetes insipidus. [Review] PMID: 22386940
29. Loss-of-function mutations in the vasopressin type 2 receptor gene is associated with nephrogenic diabetes insipidus. PMID: 21917732
30. the minor haplotype constructs of AVPR2 SNPs were associated with larger body weight losses during the Ironman Triathlons. PMID: 22052024
31. V2R antagonists can act as protean agonists, serving as pharmacological chaperones for inactivating V2R mutants and also as inverse agonists of wild-type receptors. PMID: 22144672
32. It is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops. PMID: 21574774
33. A novel missense mutation c.506T > C (p.L169P) in AVPR2 in a patient with inherited nephrogenic diabetes insipidus. PMID: 22145481
34. Overexpression of a V2R fragment corresponding to V2R-i3 as a fusion protein with thioredoxin A at the N-terminus and a hexahistidine tag between the two proteins. PMID: 21575724
35. Our study shows for the first time that renal cancer may effectively synthesize and express the V2-R. PMID: 19217806
36. no asp-lys-ile and asp-arg-tyr mutations significantly altered cAMP production and cell surface expression of V2R in these cells PMID: 20683494
37. The 12E-V2R variant has increased binding affinity for AVP, resulting in increased signal transduction, and is associated with increased levels of VWF propeptide, VWF, and FVIII. PMID: 20403097
38. study of two unrelated Thai boys with congenital nephrogenic diabetes insipidus; the novel AVPR2 mutation M311V retains partial activity and results in a milder form of nephrogenic diabetes insipidus PMID: 20389105
39. The X-linked nephrogenic diabetes insipidus is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein. PMID: 19703807
40. Amino acid substitution of AVPR2 induces the nephrogenic syndrome of inappropriate antidiuresis by reducing surface receptor levels and increasgin cycl AMP production. PMID: 20159941
41. Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations PMID: 19996159
42. proteolytic cleavage of the V2 receptor requires a defined conformation and might play a role in signal termination at elevated hormone concentrations PMID: 10561596
43. A novel type of contiguous gene deletion of AVPR2 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus. PMID: 11754100
44. A new mutation associated with nephrogenic diabetes insipidus was isolated: a 6-AA deletion between G107 and C112. PMID: 11868598
45. Mutations causing NDI include R106C, F287L, and R337X. PMID: 11916004
46. a single amino acid difference in the first extracellular loop determines the efficiency of cell surface expression PMID: 11923476
47. HV2R has a serine/threonine motif that is required for retention in the cytoplasm PMID: 12482593
48. palmitoylation enhances the recruitment of beta-arrestin to the activated V2 vasopressin receptor thus facilitating processes requiring the scaffolding action of beta-arrestin PMID: 12900404
49. V2 vasopressin receptor degradation is regulated by agonist-promoted ubiquitination PMID: 12960162
50. examination of interaction with beta-arrestin and trafficking patterns by heterodimerization with V1 vasopressin receptor PMID: 14757828

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HGNC: 897

OMIM: 300538

KEGG: hsa:554

STRING: 9606.ENSP00000338072

UniGene: Hs.567240