Gene: AVPR2

Alternate names for this Gene: ADHR|DI1|DIR|DIR3|NDI|V2R

Gene Summary: This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: arginine vasopressin receptor 2

Type of Gene: protein-coding

rs1557100594 in AVPR2 gene and Dysmorphic features PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

rs104894747 in AVPR2 gene and Nephrogenic Diabetes Insipidus, Type I PMID 8045948 1994 Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.

PMID 10694923 1998 C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.

PMID 7984150 1994 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.

PMID 9452109 1998 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.

PMID 9711877 1998 V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

PMID 7560098 1995 Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

PMID 7833930 1994 Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

PMID 16845277 2006 Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

PMID 1303257 1992 Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

PMID 8078903 1994 Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

PMID 11232028 2001 The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.

PMID 11916004 2002 Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

PMID 8514744 1993 Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.

PMID 1303271 1992 Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.

PMID 8037205 1994 Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

PMID 7987330 1994 Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.

PMID 10770218 2000 Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

PMID 8479490 1993 Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.

PMID 11026555 2000 Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

PMID 8267567 1993 Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

PMID 10770218 2000 By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

PMID 10770218 2000 By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

PMID 10770218 2000 By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

PMID 10770218 2000 By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

rs104894756 in AVPR2 gene and Nephrogenic Syndrome of Inappropriate Antidiuresis PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

rs1557100594 in AVPR2 gene and Overgrowth PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.