Enables signaling receptor activity. Involved in positive regulation of intracellular signal transduction. Acts upstream of or within response to cytokine. Predicted to be located in endocytic vesicle; endosome; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; forelimb bud; heart; metanephros; and sensory organ. Used to study X-linked nephrogenic diabetes insipidus and nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in X-linked nephrogenic diabetes insipidus; nephrogenic diabetes insipidus; and nephrogenic syndrome of inappropriate antidiuresis. Orthologous to human AVPR2 (arginine vasopressin receptor 2).
MGI Description
PHENOTYPE: Homozygous mutation of this gene results in death before 1 week of age and various renal function and metabolic defects, such as increased hematocrit, increased serum sodium and chloride concentration, hypoglycemia, and decreased urine osmolality. [provided by MGI curators]