Human Gene AVPR2 (ENST00000646375.2) from GENCODE V39
Description: Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA. (from RefSeq NM_000054) RefSeq Summary (NM_000054): This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000646375.2 Gencode Gene: ENSG00000126895.16 Transcript (Including UTRs) Position: hg38 chrX:153,904,673-153,907,166 Size: 2,494 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chrX:153,905,146-153,906,728 Size: 1,583 Coding Exon Count: 3
ID:V2R_HUMAN DESCRIPTION: RecName: Full=Vasopressin V2 receptor; Short=V2R; AltName: Full=AVPR V2; AltName: Full=Antidiuretic hormone receptor; AltName: Full=Renal-type arginine vasopressin receptor; FUNCTION: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Kidney. DISEASE: Defects in AVPR2 are the cause of nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]. This disorder is characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. DISEASE: Defects in AVPR2 are the cause of diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]; also known as diabetes insipidus nephrogenic type 1. XNDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. WEB RESOURCE: Name=Nephrogenic and neurogenic Diabetes Insipidus; Note=AVPR2 pages; URL="http://www.medicine.mcgill.ca/nephros/avpr2.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AVPR2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P30518
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
