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Arginine vasopressin receptor 2

DiI, ND1, V2R
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] (from NCBI)
Papers using DiI antibodies
Direct conversion of human fibroblasts to multilineage blood progenitors.
Supplier
Bonini Marcelo G., In PLoS ONE, 2009
... Cells in 4-well slides were co-incubated with DiI-acLDL (Biomedical Technologies) for 1 hour, stained ...
Cross-reactivity studies of an anti-Plasmodium vivax apical membrane antigen 1 monoclonal antibody: binding and structural characterisation.
Supplier
Phillips Meg, In PLoS Pathogens, 2006
... (i) Baculovirus insect cell expression: A synthetic codon-optimized gene encoding DI and DII of PfAMA1 3D7 [27] (residues 104–438; numbering based on the initiation methionine, PF11_0344) (GenScript) was subcloned into a modified ...
Mutational Analysis of the Fractalkine Chemokine Domain
Supplier
Dai Yalei et al., In Lipids in Health and Disease, 2000
... DiI-oxLDL was obtained from Kalen Biomedical (USA) ...
Health criteria and other supporting information.
Supplier
Cotterill Sue, In PLoS ONE, 1995
... For the long-term experiment, a subgroup of cells was marked with a fluorescent (DiI) dye (Life Technologies Japan, Tokyo, Japan) at ...
Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila
Supplier
Geßner Reinhard et al., In The Journal of Cell Biology, 1987
... The vital fluorescence membrane dye DiI (1,1′-Dioctadecyl3,3,3′,3′-tetramethylindocarbocyanine perchlorate) was from Becton Dickinson (Heidelberg, FRG) ...
Papers on DiI
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
GeneRIF
Phylactou et al., Nicosia, Cyprus. In Metabolism, 2012
In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial nephrogenic diabetes insipidus. [Review]
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
GeneRIF
Wallace et al., Chongqing, China. In Proc Natl Acad Sci U S A, 2012
Studies indicate that NADH dehydrogenase subunit 1 (ND1) nucleotide 3394 T > C (Y30H) has been associated with Leber hereditary optic neuropathy and it reduces complex I activity and cellular respiration.
Collecting duct cells that lack normal cilia have mislocalized vasopressin-2 receptors.
GeneRIF
Kolb et al., Charleston, United States. In Am J Physiol Renal Physiol, 2012
In polycystic kidney disease, structural or functional loss of cilia leads to abnormal trafficking of AQP2/V2R leading to enhanced salt and water absorption.
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
GeneRIF
Rocher et al., Bordeaux, France. In Hum Mutat, 2012
Novel ND1 mutations responsible for maternally inherited nonsyndromic hearing loss
A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
GeneRIF
Lu et al., Changsha, China. In J Pediatr Endocrinol Metab, 2010
A novel missense mutation c.506T > C (p.L169P) in AVPR2 in a patient with inherited nephrogenic diabetes insipidus.
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