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Validated All-in-One™ qPCR Primer for AVPR2(NM_000054.5) Search again
Product ID:
HQP014418
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ADHR, DI1, DIR, DIR3, NDI, NDI1, V2R
Gene Description:
arginine vasopressin receptor 2
Target Gene Accession:
NM_000054.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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.
Gene References into function
- proteolytic cleavage of the V2 receptor requires a defined conformation and might play a role in signal termination at elevated hormone concentrations
- A novel type of contiguous gene deletion of AVPR2 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
- A new mutation associated with nephrogenic diabetes insipidus was isolated: a 6-AA deletion between G107 and C112.
- Mutations causing NDI include R106C, F287L, and R337X.
- a single amino acid difference in the first extracellular loop determines the efficiency of cell surface expression
- HV2R has a serine/threonine motif that is required for retention in the cytoplasm
- palmitoylation enhances the recruitment of beta-arrestin to the activated V2 vasopressin receptor thus facilitating processes requiring the scaffolding action of beta-arrestin
- V2 vasopressin receptor degradation is regulated by agonist-promoted ubiquitination
- examination of interaction with beta-arrestin and trafficking patterns by heterodimerization with V1 vasopressin receptor
- analysis of pharmacochaperone cell surface delivery with a three-dimensional homology model of the antagonist-bound hV2R
- a C-terminal region of the V2R important for calmodulin interaction is also important in modulation of V2R elevation of intracellular Ca2
- V2 vasopressin receptor has a role in inhibiting signaling through its interaction with receptor dimer and G protein
- The data suggested that lysine 231 and glutamate 268 might interact with each other and might play a role in promoting GDP/GTP exchange in V2 vasopressin receptors.
- Results show that the hydrophobic amino acid residues in the membrane-proximal C tail of the G protein-coupled vasopressin V2 receptor are necessary for transport-competent receptor folding.
- Genetic analysis confirmed a mutation in AVPR2.
- V2R-V206D and V2R-S167T were rescued and matured to a greater extent, suggesting that the rescuing activity of a pharmacological versus chemical chaperone is broader and stronger
- molecular dynamics analysis of mechanism of desmopressin binding in vasopressin V2 receptor versus vasopressin V1a and oxytocin receptors
- After VP stimulation of renal epithelial cells, AQP2 accumulates at the cell surface, while the V2R is actively internalized. This endocytotic block may involve a reduced capacity of phosphorylated AQP2 to interact with the endocytotic machinery.
- Most missense AVPR2 mutations lead to receptors that are trapped intracellularly; a few mutant receptors reach the cell surface but are unable to bind AVP or to properly trigger an intracellular cyclic adenosine monophosphate signal.
- The disorder nephrogenic diabetes insipidus (NDI) is inherited in an X-linked or autosomal fashion due to mutations in the genes encoding V2R or AQP2, respectively.
- Two novel mutations were identified in each of AVPR2 and AQP2 underlying Congenital Nephrogenic Diabetes Insipidus in Arab families.
- Findings of mutations scattered over the entire coding region of the AVPR2 gene are a valuable model to determine structure function relationship in G-protein-coupled receptor-related diseases.
- These findings suggest that the two patients in a Chinese family suffering from congenital nephrogenic diabetes insipidus had a 5,995-bp deletion and 3-bp (GAG) insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene.
- Y205F missense mutation would cause nephrogenic diabetes insipidus.
- Mutations involved in nephrogenic syndrome of inappropriate antidiuresis in men and womwen.
- Primary nocturanl enuresis and coexisting nephrogenic diabetes insipidus, as a result of a novel nonsense mutation in the V2R gene (C358X).
- Urinary AQP2 excretion was absent in patients with severely debilitating mutations, a novel total deletion of the A VPR2 gene, and a novel nonsense mutation W296X.
- V(2)R mRNA was expressed in medullary TAL (MTAL), macula densa, connecting tubule, and cortical and medullary collecting duct, and was weakly expressed in cortical TAL and distal convoluted tubule in rat, mouse, and human.
- Ubiquitin-like protein PLIC-2 is identified as a negative regulator of G protein-coupled receptor endocytosis.
- The protective mechanism exerted by OPC-31260 stems from its influence on the renal vasopressin V(2) receptors. These observations might suggest an effective approach to the treatment of global hypoxia-induced cerebral oedema in humans.
- Clinical nephrogenic diabetes insipidus phenotypes may correlate with the X-inactivation patterns in female carriers with heterozygote vasopressin type 2 receptor gene mutations.
- Data demonstrated a direct and specific interaction between vasopressin V2 receptor and GC1q-Rthese two proteins via the arginine cluster of vasopressin V2 receptor.
- identified a novel phosphorylation site (Ser(255))in the third intracellular loop that could be phosphorylated in vitro by protein kinase A, but not by Akt kinase
- AVPR2 variants & mutations in nephrogenic diabetes insipidus(NDI); spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense
- adults with intermittent, severe hyponatraemia may have a constitutively activating mutation in the AVPR2 with resultant nephrogenic syndrome of inappropriate antidiuresis
- both pAVP (1.6-fold versus controls; P = 0.048) and inner ear V2R mRNA expression (41.5-fold versus controls; P = 0.022) were significantly higher in Meniere's patients than controls