Aquaporin 2 gene is mapped on chromosome 12q13 with base pairs of base pairs 49,950,740 - 49,958,880 that encodes water channel protein in a series of small tubules of kidney that reabsorbed water into the bloodstream.
Aquaporin 2 shows a vital role in maintaining water balance in the body which is controlled by hormonevasopressin. When the fluid intake is low the body generates more vasopressin or antidiuretic hormone to activate chemical reactions that ultimately put in Aquaporin 2 water channels into the membrane of the collecting duct cells which allows water to reabsorb into the bloodstream that makes urine more intense. Moreover, in absence of the signal from vasopressin Aquaporin 2 is removed from the membrane of the collecting duct cells making less water reabsorbed in the bloodstream, thus urine is more dilute.
Aquaporin 2 gene mutations caused nephrogenic diabetes insipidus in which protein is misfolded into an incorrect 3-dimensional shape wherein the misfolded protein is trapped or misrouted within cell where it cannot reach to the cell membranes conveying water molecules.
Gene name: AQP2
Protein name: Aquaporin-2