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FLASH GENE
Symbol AQP2 contributors: mct/npt/pgu - updated : 02-04-2015
HGNC name aquaporin 2 (collecting duct)
HGNC id 634
Corresponding disease
DIR2 nephrogenic diabetes insipidus, autosomal
Location 12q13.12      Physical location : 50.344.523 - 50.352.662
Synonym name
  • aquaporin 2, water channel forming integral protein
  • collecting duct water channel protein
  • Synonym symbol(s) AQP-CD, MGC34501, WCH-CD
    DNA
    TYPE functioning gene
    STRUCTURE 8.14 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D12S1997 - (PRPH ,D12S1627 ) - D12S1129E - AQP2 - D12S131 - GPD1 - D12S1425 - D12S1145E - D12S1249E - D12S1401 - D12S361 - D12S1811 - ELA1 - D12S1629 - D12S1951 - D12S1546 - D12S347 - (ACVRL1 ,ACVR1B ) - D12S1712 - D12S297 - D12S368 - KRT7 - D12S270 - qter
    Authors 4st Workshop chrom.12 (97)
    Physical map
    DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6 PRPH 12q12-q13 peripherin TROAP 12p11.1 trophinin associated protein (tastin) LOC338761 12q13.12 similar to C1q-related factor precursor FLJ13236 12q13.12 hypothetical protein FLJ13236 SPATS2 12q13.12 spermatogenesis associated, serine-rich 2 KCNH3 12q13 potassium voltage-gated channel, subfamily H (eag-related), member 3 MCRS1 12q13.1 microspherule protein 1 DKFZP434J0113 12q13.12 hypothetical protein DKFZp434J0113 HYPC 12q hypothetical protein DKFZp434J0113 FMNL3 12q13.12 formin-like 3 TEGT 12q12-q13 testis enhanced gene transcript (BAX inhibitor 1) KIAA1602 12q13.12 KIAA1602 protein LOC144233 12q13.12 hypothetical protein LOC144233 FAIM2 12q13 Fas apoptotic inhibitory molecule 2 AQP2 12q13.1 aquaporin 2 (collecting duct) AQP5 12q13 aquaporin 5 AQP6 12q13 aquaporin 6, kidney specific RACGAP1 12p11.1 Rac GTPase activating protein 1 ACCN2 12q12 amiloride-sensitive cation channel 2, neuronal SMARCD1 12q13.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 GPD1 12q13.1 glycerol-3-phosphate dehydrogenase 1 (soluble) MGC14288 12q13.12 hypothetical protein MGC14288 LASS5 12q13.12 LAG1 longevity assurance homolog 5 (S. cerevisiae) EPLIN 12q13 LAG1 longevity assurance homolog 5 (S. cerevisiae) LOC121006 12q13.12 hypothetical protein LOC121006 LOC113251 12q13.12 c-Mpl binding protein FLJ34278 12q13.12-q13.13 hypothetical protein FLJ34278 ATF1 12q13.1-q13.2 activating transcription factor 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4222 - 271 - 2007 17636261
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Reproductivefemale systemuteruscervix  
     male systemprostate   
    Respiratoryrespiratory tracttrachea   
    Urinarykidneytubule  highly Homo sapiens
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandular  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell Homo sapiens
    Skin/Tegumentduct
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six transmembrane domains connected by loops A and E with the N-and C-termini located intracellularly
  • two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA)
  • 71 AA C terminal tail including a putative PDZ-interacting motif (G-T-K-A, residues 268-271) wich plays a key role in apical membrane expression
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Aqp2
    Homologene
    FAMILY
  • MIP/aquaporin family
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • translocating from intracellular vesicles to the apical plasma membrane
  • integral membrane protein
  • translocation of AQP2 is initiated by an increase in cAMP following AVPR2 activation through AVP
  • basic FUNCTION
  • ‘‘orthodox’’aquaporin, that transport only water molecules
  • increasing water, predominantly in response to vasopressin (AVP)
  • playing an important role in fluid homeostasis of the inner ear
  • providing the plasma membrane of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient
  • its phosphorylation regulates its endocytosis and protein-protein interactions (
  • its expression facilitates cell swelling or shrinkage leading to the activation of channels necessary to the control of initiation of cell proliferation or apoptosis
  • mediates E(2)-enhanced migration, invasion, and adhesion through alteration of F-actin and annexin-2 expression and reorganization of F-actin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text water channel
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct binding to cytoskeletal protein actin (providing a novel mechanism for trafficking of not only AQP2 but also recycling channel proteins)
  • putative substrate of calcineurin phosphatase in the kidney
  • interacting with AVP (modulates the water channel aquaporin-2 (AQP2) in the renal collecting duct to maintain homeostasis of body water)
  • intreracting with TBC1D4 (decreased expression of TBC1D4 is likely to play a role in the translocation of AQP2 to the plasma membrane)
  • NR1H4 plays a critical role in the regulation of urine volume, and its activation increases urinary concentrating capacity mainly via up-regulating its target gene AQP2 expression in the collecting ducts
  • GATA2 regulates the AQP2 gene expression in collecting duct (CD) cells and contributes to the maintenance of the body water homeostasis
  • FXYD1 (phospholemman), better known as a regulator of Na,K-ATPase, has a role in AQP2 trafficking
  • cell & other
    REGULATION
    Phosphorylated by AVP (Vasopressin regulates phosphorylation of AQP2 at four conserved serine residues at the COOH-terminal tail (S256, S261, S264, and S269)
    ASSOCIATED DISORDERS
    corresponding disease(s) DIR2
    related resource Nephrotic diabetes Insipidus
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the endolymphatic sac was significantly in Meniere patients
    Susceptibility
  • to Ménière disease
  • Variant & Polymorphism SNP
  • variant rs426496 in AQP2 were found in patients with Ménière disease
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialear 
    aquaporins appear to be important for the development of novel drug therapies for Meniere disease and related disorders
    cancer  
    inhibition of AQP may be a potential method for antitumor therapy
    ANIMAL & CELL MODELS