Entity Details

Primary name AVPR2
Entity type gene
Source Source Link

Details

PrimaryID554
RefseqGeneNG_008687
SymbolAVPR2
Namearginine vasopressin receptor 2
ChromosomeX
LocationXq28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsV2R_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001992 regulation of systemic arterial blood pressure by vasopressin
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0003091 renal water homeostasis
GO:0004930 G protein-coupled receptor activity
GO:0005000 vasopressin receptor activity
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007588 excretion
GO:0007599 hemostasis
GO:0008285 negative regulation of cell population proliferation
GO:0010628 positive regulation of gene expression
GO:0016021 integral component of membrane
GO:0030139 endocytic vesicle
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0042277 peptide binding
GO:0045907 positive regulation of vasoconstriction
GO:0048471 perinuclear region of cytoplasm
GO:0061024 membrane organization

Diseases

Show/Hide Table
Disease IDSourceNameDescription
300539 OMIMNephrogenic 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. The disease is caused by variants affecting the gene represented in this entry.
304800 OMIMDiabetes insipidus, nephrogenic, X-linked (XNDI)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. The disease is caused by variants affecting the gene represented in this entry.