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FLASH GENE
Symbol AQP6 contributors: mct/npt - updated : 22-08-2009
HGNC name aquaporin 6, kidney specific
HGNC id 639
Location 12q13.13      Physical location : 50.366.619 - 50.370.922
Synonym name
  • aquaporin 2-like, water channel forming integral protein
  • aquaporin 2-like, kidney specific
  • aquaporin 6
  • Synonym symbol(s) AQP2L, KID, AQP-6
    DNA
    TYPE functioning gene
    STRUCTURE 4.66 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    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 - 2654 - 282 - Ikeda (2002)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnervestibule  
     earinnercochlea  
    Urinarykidneynephronrenal capsuleglomerulus 
     kidneytubulecollecting duct highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    N-terminal putative calmodulin binding site (binding of AQP6 to calmodulin may be an important key to determining the physiological role of AQP6 in the kidney)(Rabaud 2009)
    HOMOLOGY
    intraspecies homolog to MIP
    Homologene
    FAMILY
  • major intrinsic protein (MIP)/aquaporin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text renal epithelial cell, intracellular membranes of vesicles in glomeruli, located in subapical compartment of segments 2 and 3 cells and in collecting ducts
    basic FUNCTION
  • ‘‘orthodox’’aquaporin, that transport only water molecules (Sorani 2008)
  • potentially involved in glomerular filtration, tubular endocytosis and acid-base metabolism
  • functionning not as a water channel l but as an anion-selective channel with marked specificity for nitrate
  • may have a role in cellular regulation rather than simple fluid transport
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds calmodulin in a calcium-dependent manner (it is possible that calmodulin binding to the N-terminus of AQP6 could affect its localization in the cell) (Rabaud 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS