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FLASH GENE
Symbol AVPR2 contributors: npt/mct/pgu - updated : 02-04-2012
HGNC name arginine vasopressin receptor 2
HGNC id 897
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-linked glycosylation site
  • seven transmembrane segments (7TM) receptor
  • numerous ser/Thr residues at the C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • G protein coupled receptor superfamily
  • CATEGORY signaling hormone , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • the counteractivity of AVPR2 and AVPR1A could be required to maintain minimum urine volume in the dehydrated state
  • key component involved in renal water reabsorption
  • presence in primary cilia of renal epithelial cells, and with a functional cAMP-signaling pathway, which targets ciliary channel function, may help control the sensory function of the primary cilium
  • exhibits mostly important properties for hydroosmotic equilibrium and, to a lesser extent, on vasomotricity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NFKB and AQP2 (NF-kappaB activation is of importance for the downregulation of AQP2 channel and AVPR2 expression during sepsis)
  • functionally and conformationally activate ARRB1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DIR1 , SIADH
    related resource Neprhogenic diabetes Insipidus
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    contiguous gene syndrome encompassing L1CAM, in patients with congenital hydrocephalus and diabetes insipidus
    constitutional   deletion    
    contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing ARHGAP4 and ARD1A
    constitutional       gain of function
    gain of basal functionals may contribute to the increased urine concentration abilities and, therefore, provide an advantage to maintain water and electrolyte homeostasis under limited water supply conditions
    constitutional     --over  
    significantly higher in the inner ear Meniere patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS