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AVPR2

Function

Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.

Involvement in disease

Nephrogenic syndrome of inappropriate antidiuresis

NSIAD

Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis.

None

The disease is caused by variants affecting the gene represented in this entry.

Diabetes insipidus, nephrogenic, 1, X-linked

NDI1

A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.

Tissue Specificity

Kidney.

Cellular localization

Alternative names

ADHR, DIR, DIR3, V2R, AVPR2, Vasopressin V2 receptor, AVPR V2, Antidiuretic hormone receptor, Renal-type arginine vasopressin receptor

swissprot:P30518 omim:300538 entrezGene:554