The AVPR2 gene encodes the arginine vasopressin receptor-2 (V2R), a G protein-coupled receptor.
The biologic effects of arginine vasopressin (AVP) (MIM.192340) are mediated by 3 receptor subtypes: the V1A (MIM.600821) and V1B (MIM.600264) receptors that activate phospholipases via Gq/11, and the V2 receptor that activates adenylyl cyclase by interacting with G(s).
In the collecting ducts of the kidney, the AVPR2 receptor is involved in the maintenance of water homeostasis.
Pathology
germline mutations in
- X-linked nephrogenic diabetes insipidus (MIM.304800)
- syndrome of inappropriate antidiuretic hormone secretion (SIADH)
See also