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MGP000282

UniProt Annotations

Entry Information
Gene Namearginine vasopressin receptor 2
Protein EntryV2R_HUMAN
UniProt IDP30518
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30518-1; Sequence=Displayed; Name=2; IsoId=P30518-2; Sequence=VSP_036990, VSP_036991;
DiseaseDiabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: 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. {ECO:0000269|PubMed:10694923, ECO:0000269|PubMed:10770218, ECO:0000269|PubMed:11232028, ECO:0000269|PubMed:11916004, ECO:0000269|PubMed:1303257, ECO:0000269|PubMed:1303271, ECO:0000269|PubMed:1356229, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:7560098, ECO:0000269|PubMed:7833930, ECO:0000269|PubMed:7984150, ECO:0000269|PubMed:7987330, ECO:0000269|PubMed:7999078, ECO:0000269|PubMed:8037205, ECO:0000269|PubMed:8045948, ECO:0000269|PubMed:8078903, ECO:0000269|PubMed:8267567, ECO:0000269|PubMed:8479490, ECO:0000269|PubMed:8514744, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9452109, ECO:0000269|PubMed:9711877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. {ECO:0000269|PubMed:15872203}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionReceptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. {ECO:0000269|PubMed:19440390}.
SimilarityBelongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. {ECO:0000255|PROSITE- ProRule:PRU00521}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
Tissue SpecificityKidney.
Web ResourceName=Nephrogenic and neurogenic Diabetes Insipidus; Note=AVPR2 pages; URL="http://www.medicine.mcgill.ca/nephros/avpr2.html";
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