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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
Corresponding disease
DIR1 nephrogenic diabetes insipidus, X-linked
SIADH inappropriate secretion of antidiuretic hormone
Location Xq28      Physical location : 153.167.984 - 153.172.619
Synonym name
  • antidiuretic hormone receptor
  • nephrogenic diabetes insipidus
  • renal-type arginine vasopressin receptor
  • Synonym symbol(s) VR2R, DI1, ADHR, MGC126533, MGC138386, NDI, V2R,
    DNA
    TYPE functioning gene
    STRUCTURE 2.19 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   HRE
    motif repetitive sequence   other
    text structure short cis-acting element
    MAPPING cloned Y linked   status confirmed
    Map cen - DXS52 - DXS15 - BGN - L1CAM - AVPR2 - DXS80 - RGCP@ - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1682 40.15 371 . only in the kidney . did not move to the plasma membrane, but it is retained in the ER--Golgi compartments 2011 21534618
  • V2b receptor
  • has an amino acid sequence identical to that of the V2a receptor up to the sixth transmembrane domain, but the V2b sequences corresponding to the putative seventh transmembrane domain and the carboxyl terminus are different from those of the V2a receptor
  • - splicing 1788 33.6 309 - 2011 21534618
  • V2a receptor
  • C-terminal sequence beyond the sixth transmembrane of the V2a is required for the stabilization of the seven-transmembrane topology of the receptor and is also essential for the trafficking of the receptor to the plasma membrane
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Urinarykidneytubulecollecting duct highly Homo sapiens
     kidneytubule  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    cell lineage
    cell lines lung cancer cells
    fluid/secretion
    at STAGE
    physiological period fetal
    Text lung
    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