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    AVPR2 arginine vasopressin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 554, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Role of the V2R-betaarrestin-Gbetagamma complex in promoting G protein translocation to endosomes.

    Role of the V2R-βarrestin-Gβγ complex in promoting G protein translocation to endosomes.
    Sokrat B, Nguyen AH, Thomsen ARB, Huang LY, Kobayashi H, Kahsai AW, Kim J, Ho BX, Ma S, Little J 4th, Ehrhart C, Pyne I, Hammond E, Bouvier M., Free PMC Article

    07/15/2024
    Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.

    Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
    Erdem Tuncdemir B.

    12/17/2022
    Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.

    Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
    Heidman LM, Peinetti N, Copello VA, Burnstein KL., Free PMC Article

    08/13/2022
    Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.

    Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.

    02/19/2022
    Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.

    Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis.
    Lopez E, Fukuda S, Modis K, Fujiwara O, Enkhtaivan B, Trujillo-Abarca R, Ihara K, Lima-Lopez F, Perez-Bello D, Szabo C, Prough DS, Enkhbaatar P., Free PMC Article

    11/22/2021
    AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

    AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    Gao C, Higgins PJ, Zhang W., Free PMC Article

    06/19/2021
    Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.

    Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2.
    He QT, Xiao P, Huang SM, Jia YL, Zhu ZL, Lin JY, Yang F, Tao XN, Zhao RJ, Gao FY, Niu XG, Xiao KH, Wang J, Jin C, Sun JP, Yu X., Free PMC Article

    05/15/2021
    Epithelial Vasopressin Type-2 Receptors Regulate Myofibroblasts by a YAP-CCN2-Dependent Mechanism in Polycystic Kidney Disease.

    Epithelial Vasopressin Type-2 Receptors Regulate Myofibroblasts by a YAP-CCN2-Dependent Mechanism in Polycystic Kidney Disease.
    Dwivedi N, Tao S, Jamadar A, Sinha S, Howard C, Wallace DP, Fields TA, Leask A, Calvet JP, Rao R., Free PMC Article

    03/6/2021
    The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation.

    The Vasopressin Receptor 2 Mutant R137L Linked to the Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Signals through an Alternative Pathway that Increases AQP2 Membrane Targeting Independently of S256 Phosphorylation.
    Ranieri M, Venneri M, Pellegrino T, Centrone M, Di Mise A, Cotecchia S, Tamma G, Valenti G., Free PMC Article

    03/6/2021
    Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.

    Vasopressin receptor 2 mutations in the nephrogenic syndrome of inappropriate antidiuresis show different mechanisms of constitutive activation for G protein coupled receptors.
    Vezzi V, Ambrosio C, Grò MC, Molinari P, Süral G, Costa T, Onaran HO, Cotecchia S., Free PMC Article

    01/23/2021
    A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

    A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
    Ding C, Beetz R, Rittner G, Bartsch O.

    01/16/2021
    Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

    Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.
    Prosperi F, Suzumoto Y, Marzuillo P, Costanzo V, Jelen S, Iervolino A, Guarino S, La Manna A, Miraglia Del Giudice E, Perna AF, Zacchia M, Cordat E, Capasso G, Trepiccione F., Free PMC Article

    01/9/2021
    Dynamics and structural communication in the ternary complex of fully phosphorylated V2 vasopressin receptor, vasopressin, and beta-arrestin 1.

    Dynamics and structural communication in the ternary complex of fully phosphorylated V2 vasopressin receptor, vasopressin, and β-arrestin 1.
    Bellucci L, Felline A, Fanelli F.

    12/5/2020
    Constitutively active V2R mutants associated with NSIAD result perturbation of water permeability in MCD4 cellsMCD4 cells.

    Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a cell-based assay to assess constitutive water reabsorption.
    Ranieri M, Tamma G, Pellegrino T, Vezzi V, Ambrosio C, Grò C, Di Mise A, Costa T, Valenti G, Cotecchia S.

    06/20/2020
    A mutation in AVPR2 was discovered to be associated with nephrogenic diabetes insipidus

    Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.
    Peng D, Dai Y, Xu X., Free PMC Article

    10/26/2019
    the present studies have now identified a promising lead compound that could function as a pharmacoperone to correct the trafficking defect of the NDI-associated mutant V2R L83Q and thus has the therapeutic potential for the treatment of NDI.

    Chemical validation and optimization of pharmacoperones targeting vasopressin type 2 receptor mutant.
    Janovick JA, Spicer TP, Bannister TD, Smith E, Ganapathy V, Scampavia L.

    04/6/2019
    A hemizygous, missense mutation was identified at the position 80(th) in exon 2 (p.H80Y) of arginine vasopressin receptor 2 (AVPR2) in the proband, and the proband's mother, maternal aunt and grandmother were heterozygous and his maternal uncle was hemizygous for this mutation.

    A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus.
    Çelebi Tayfur A, Karaduman T, Özcan Türkmen M, Şahin D, Çaltık Yılmaz A, Büyükkaragöz B, Buluş AD, Mergen H., Free PMC Article

    02/9/2019
    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.

    Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
    Joshi S, Kvistgaard H, Kamperis K, Færch M, Hagstrøm S, Gregersen N, Rittig S, Christensen JH.

    09/8/2018
    A novel 22.1-kb deletion in AVPR2 was identified, leading to X-linked nephrogenic diabetes insipidus in a Chinese pedigree.

    Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
    Bai Y, Chen Y, Kong X., Free PMC Article

    09/1/2018
    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.

    Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
    Milano S, Carmosino M, Gerbino A, Svelto M, Procino G., Free PMC Article

    07/14/2018
    Data found Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking

    Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.
    Tiulpakov A, White CW, Abhayawardana RS, See HB, Chan AS, Seeber RM, Heng JI, Dedov I, Pavlos NJ, Pfleger KD., Free PMC Article

    12/30/2017
    An overview of AVPR2 mutations in genetic forms of nephrogenic diabetes insipidus (review)

    Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
    Bichet DG, Bockenhauer D.

    07/29/2017
    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

    A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.
    Guo WH, Li Q, Wei HY, Lu HY, Qu HQ, Zhu M., Free PMC Article

    06/3/2017
    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.

    Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.
    Makita N, Sato T, Yajima-Shoji Y, Sato J, Manaka K, Eda-Hashimoto M, Ootaki M, Matsumoto N, Nangaku M, Iiri T., Free PMC Article

    05/27/2017
    AVPR2 missense mutation is associated with nephrogenic diabetes insipidus.

    Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.
    Yamashita S, Hata A, Usui T, Oda H, Hijikata A, Shirai T, Kaneko N, Hata D.

    05/13/2017
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