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Index > Protein center > AQP2(Gene name) > Human
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  • AQP2 (Gene name),
  • Aquaporin-2 (Protein name ),  AQP2_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    AQP2;
    Protein name:
    Aquaporin-2(AQP-2);
    Alternative:
    Aquaporin-CD(AQP-CD);ADH water channel;WCH-CD;Collecting duct water channel protein;Water channel protein for renal collecting duct;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.
    Subcellular Location:
    Apical cell membrane Multi-pass membrane protein Cytoplasmic vesicle membrane Multi-pass membrane protein Shuttles from vesicles to the apical membrane.
    Protein Attributes:
    Sequence length:
    271
    Sequence:
    50:
    MWELRSIAFS | RAVFAEFLAT | LLFVFFGLGS | ALNWPQALPS | VLQIAMAFGL | 
    100:
    GIGTLVQALG | HISGAHINPA | VTVACLVGCH | VSVLRAAFYV | AAQLLGAVAG | 
    150:
    AALLHEITPA | DIRGDLAVNA | LSNSTTAGQA | VTVELFLTLQ | LVLCIFASTD | 
    200:
    ERRGENPGTP | ALSIGFSVAL | GHLLGIHYTG | CSMNPARSLA | PAVVTGKFDD | 
    250:
    HWVFWIGPLV | GAILGSLLYN | YVLFPPAKSL | SERLAVLKGL | EPDTDWEERE | 
    271:
    VRRRQSVELH | SPQSLPRGTK | A
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    UniGene:
    String:
    KEGG:
    SMR:
    Pfam:
    Uniprot:
     
    FOR
    ELISA Kit for Human AQP-2
    Cat.:
    E0580b
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    96T
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    ELISA Kit for Human AQP-2
    Cat.:
    E0580r
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    Packing:
    96T
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    ELISA Kit for Human AQP-2
    Cat.:
    E0580m
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human AQP-2
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    E0580h
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    96T
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    ELISA Kit for Human AQP-2
    Cat.:
    E0580d
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human AQP-2
    MSDS:
    Please sign in first.
    CLIA Kit for Human AQP-2
    Cat.:
    U0580h
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human AQP-2
    MSDS:
    Please sign in first.
    CLIA Kit for Human AQP-2
    Cat.:
    U0580b
    Price:
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human AQP-2
    Cat.:
    U0580d
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    Packing:
    96T
    CLIA Kit for Human AQP-2
    Cat.:
    U0580m
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    96T
    CLIA Kit for Human AQP-2
    Cat.:
    U0580r
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human AQP-2
    Cat.:
    P0580Rb-m
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human AQP-2
    Polyclonal Antibody for Human AQP-2
    Cat.:
    P0580Rb-r
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human AQP-2
    Polyclonal Antibody for Human AQP-2
    Cat.:
    P0580Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Monoclonal Antibody for Human AQP-2
    Protein for Human AQP-2
    Cat.:
    R0580h
    Price:
    Please sign in first.
    Packing:
    1mg
    Purity:
    >90%
    Protein for Human AQP-2
    Protein for Human AQP-2
    Protein for Human AQP-2
    Protein for Human AQP-2
    Protein for Human AQP-2

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine."
      Deen P.M.T. , Verdijk M.A.J. , Knoers V.V.A.M. , Wieringa B. , Monnens L.A.H. , van Os C.H. , van Oost B.A.
      Science264:92-94(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    2. 2.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    3. 3.
      "Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene."
      van Lieburg A.F. , Verdijk M.A.J. , Knoers V.V.A.M. , van Essen A.J. , Proesmans W. , Mallmann R. , Monnens L.A.H. , van Oost B.A. , van Os C.H. , Deen P.M.T.
      Am. J. Hum. Genet.55:648-652(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS ANDI ARG-64; CYS-187 AND PRO-216
    4. 4.
      "Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct."
      Sasaki S. , Fushimi K. , Saito H. , Saito F. , Uchida S. , Ishibashi K. , Kuwahara M. , Ikeuchi T. , Inui K. , Nakajima K.
      J. Clin. Invest.93:1250-1256(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Kidney.
    5. 5.
      "Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus."
      Marr N. , Bichet D.G. , Lonergan M. , Arthus M.-F. , Jeck N. , Seyberth H.W. , Rosenthal W. , van Os C.H. , Oksche A. , Deen P.M.T.
      Hum. Mol. Genet.11:779-789(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Kidney.
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Colon.
    7. 7.
      "The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel."
      van Balkom B.W.M. , Savelkoul P.J.M. , Markovich D. , Hofman E. , Nielsen S. , van der Sluijs P. , Deen P.M.T.
      J. Biol. Chem.277:41473-41479(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;PHOSPHORYLATION AT SER-256;MUTAGENESIS OF SER-148; SER-229; SER-231; THR-244 AND SER-256
    8. 8.
      "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus."
      Oksche A. , Moeller A. , Dickson J. , Rosendahl W. , Rascher W. , Bichet D.G. , Rosenthal W.
      Hum. Genet.98:587-589(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ANDI CYS-202
    9. 9.
      "Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response."
      Canfield M.C. , Tamarappoo B.K. , Moses A.M. , Verkman A.S. , Holtzman E.J.
      Hum. Mol. Genet.6:1865-1871(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI VAL-22 AND TRP-181
    10. 10.
      "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels."
      Mulders S.M. , Knoers N.V. , Van Lieburg A.F. , Monnens L.A. , Leumann E. , Wuhl E. , Schober E. , Rijss J.P.L. , Van Os C.H. , Deen P.M.T.
      J. Am. Soc. Nephrol.8:242-248(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI SER-68; MET-126 AND THR-147
    11. 11.
      "Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus."
      Vargas-Poussou R. , Forestier L. , Dautzenberg M.D. , Niaudet P. , Dechaux M. , Antignac C.
      J. Am. Soc. Nephrol.8:1855-1862(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI MET-168 AND PRO-216
    12. 12.
      "Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus."
      Kuwahara M.
      Intern. Med.37:215-217(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI MET-125; ARG-175; THR-190 AND LEU-262
    13. 13.
      "An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex."
      Mulders S.M. , Bichet D.G. , Rijss J.P.L. , Kamsteeg E.-J. , Arthus M.-F. , Lonergan M. , Fujiwara M. , Morgan K. , Leijendekker R. , van der Sluijs P. , van Os C.H. , Deen P.M.T.
      J. Clin. Invest.102:57-66(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ANDI LYS-258
    14. 14.
      "Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function."
      Goji K. , Kuwahara M. , Gu Y. , Matsuo M. , Marumo F. , Sasaki S.
      J. Clin. Endocrinol. Metab.83:3205-3209(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI MET-125 AND ARG-175
    15. 15.
      "Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus."
      Marr N. , Bichet D.G. , Hoefs S. , Savelkoul P.J.M. , Konings I.B. , De Mattia F. , Graat M.P. , Arthus M.-F. , Lonergan M. , Fujiwara T.M. , Knoers N.V. , Landau D. , Balfe W.J. , Oksche A. , Rosenthal W. , Muller D. , Van Os C.H. , Deen P.M.
      J. Am. Soc. Nephrol.13:2267-2277(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI PRO-28; VAL-47; MET-71; MET-125; ARG-175 AND ALA-185;VARIANT ILE-194
    16. 16.
      "Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families."
      Lin S.H. , Bichet D.G. , Sasaki S. , Kuwahara M. , Arthus M.-F. , Lonergan M. , Lin Y.-F.
      J. Clin. Endocrinol. Metab.87:2694-2700(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI PRO-57 AND VAL-100
    17. 17.
      "A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L."
      de Mattia F. , Savelkoul P.J.M. , Bichet D.G. , Kamsteeg E.-J. , Konings I.B.M. , Marr N. , Arthus M.-F. , Lonergan M. , van Os C.H. , van der Sluijs P. , Robertson G. , Deen P.M.T.
      Hum. Mol. Genet.13:3045-3056(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI CYS-187; THR-190 AND LEU-262;CHARACTERIZATION OF VARIANTS ANDI CYS-187; THR-190 AND LEU-262
    18. 18.
      "Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus."
      de Mattia F. , Savelkoul P.J.M. , Kamsteeg E.-J. , Konings I.B.M. , van der Sluijs P. , Mallmann R. , Oksche A. , Deen P.M.T.
      J. Am. Soc. Nephrol.16:2872-2880(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ANDI LEU-254;CHARACTERIZATION OF VARIANT ANDI LEU-254
    19. 19.
      "Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus."
      Cheong H.I. , Cho S.J. , Zheng S.H. , Cho H.Y. , Ha I.S. , Choi Y.
      J. Korean Med. Sci.20:1076-1078(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI ASP-70 AND HIS-187
    20. 20.
      "Novel mutations underlying nephrogenic diabetes insipidus in Arab families."
      Carroll P. , Al-Mojalli H. , Al-Abbad A. , Al-Hassoun I. , Al-Hamed M. , Al-Amr R. , Butt A.I. , Meyer B.F.
      Genet. Med.8:443-447(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ANDI ARG-100 AND SER-180
    21. 21.
      "p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation."
      Savelkoul P.J.M. , De Mattia F. , Li Y. , Kamsteeg E.-J. , Konings I.B.M. , van der Sluijs P. , Deen P.M.T.
      Hum. Mutat.30:E891-E903(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN ANDI;VARIANT ANDI GLN-254;CHARACTERIZATION OF VARIANT ANDI GLN-254
    22. 22.
      "Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus."
      Kamsteeg E.-J. , Stoffels M. , Tamma G. , Konings I.B.M. , Deen P.M.T.
      Hum. Mutat.30:1387-1396(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MISSORTING MOTIF OF VARIANT ANDI LYS-258
    23. 23.
      "Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene."
      Park Y.J. , Baik H.W. , Cheong H.I. , Kang J.H.
      Biomed. Rep.2:596-598(2014) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ANDI MET-108
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