Showing Protein Aquaporin-2 (HMDBP02881)

• 8388

1. ADH water channel
2. AQP-2
3. AQP-CD
4. Aquaporin-CD
5. Collecting duct water channel protein
6. WCH-CD
7. Water channel protein for renal collecting duct

• Amiloride Action Pathway
• Bendroflumethiazide Action Pathway
• Blue diaper syndrome
• Bumetanide Action Pathway
• Chlorothiazide Action Pathway
• Chlorthalidone Action Pathway
• Cyclothiazide Action Pathway
• Cystinuria
• Eplerenone Action Pathway
• Ethacrynic Acid Action Pathway
• Furosemide Action Pathway
• Glucose Transporter Defect (SGLT2)
• Hartnup Disorder
• Hydrochlorothiazide Action Pathway
• Hydroflumethiazide Action Pathway
• Iminoglycinuria
• Indapamide Action Pathway
• Kidney Function
• Lysinuric Protein Intolerance
• Lysinuric protein intolerance (LPI)
• Methyclothiazide Action Pathway
• Metolazone Action Pathway
• Polythiazide Action Pathway
• Quinethazone Action Pathway
• Spironolactone Action Pathway
• Torsemide Action Pathway
• Triamterene Action Pathway
• Trichlormethiazide Action Pathway

1. Multi-pass membrane protein
2. Multi-pass membrane protein
3. Apical cell membrane
4. Cytoplasmic vesicle membrane

>816 bp
ATGTGGGAGCTCCGCTCCATAGCCTTCTCCAGGGCTGTGTTCGCAGAGTTCCTGGCCACA
CTCCTCTTCGTCTTCTTTGGCCTCGGCTCTGCCCTCAACTGGCCACAGGCCCTGCCCTCT
GTGCTACAGATTGCCATGGCGTTTGGCTTGGGTATTGGCACCCTGGTACAGGCTCTGGGC
CACATAAGCGGGGCCCACATCAACCCTGCCGTGACTGTGGCCTGCCTGGTGGGCTGCCAC
GTCTCCGTTCTCCGAGCCGCCTTCTACGTGGCTGCCCAGCTGCTGGGGGCTGTGGCCGGA
GCCGCTCTGCTCCATGAGATCACGCCAGCAGACATCCGCGGGGACCTGGCTGTCAATGCT
CTCAGCAACAGCACGACGGCTGGCCAGGCGGTGACTGTGGAGCTCTTCCTGACACTGCAG
CTGGTGCTCTGCATCTTCGCCTCCACCGATGAGCGCCGCGGAGAGAACCCGGGCACCCCT
GCTCTCTCCATAGGCTTCTCCGTGGCCCTGGGCCACCTCCTTGGGATCCATTACACCGGC
TGCTCTATGAATCCTGCCTGCTCCCTGGCTCCAGCTGTCGTCACTGGCAAATTTGATGAC
CACTGGGTCTTCTGGATCGGACCCCTGGTGGGCGCCATCCTGGGCTCCCTCCTCTACAAC
TACGTGCTGTTTCCGCCAGCCAAGAGCCTGTCGGAGCGCCTGGCAGTGCTGAAGGGCCTG
GAGCCGGACACCGATTGGGAGGAGCGCGAGGTGCGACGGCGGCAGTCGGTGGAGCTGCAC
TCGCCGCAGAGCCTGCCACGGGGTACCAAGGCCTGA

• MIP (PF00230 )

• None

• 17-34
• 41-59
• 86-107
• 128-148
• 157-176
• 203-224

>Aquaporin-2
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALG
HISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNA
LSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTG
CSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA

1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
2. Oksche A, Moller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W: Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum Genet. 1996 Nov;98(5):587-9. [PubMed:8882880 ]
3. Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1997 Dec;8(12):1855-62. [PubMed:9402087 ]
4. Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF: Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med. 2006 Jul;8(7):443-7. [PubMed:16845277 ]
5. Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA: Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science. 1994 Apr 1;264(5155):92-5. [PubMed:8140421 ]
6. Uchida S, Sasaki S, Fushimi K, Marumo F: Isolation of human aquaporin-CD gene. J Biol Chem. 1994 Sep 23;269(38):23451-5. [PubMed:7522228 ]
7. van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM: Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet. 1994 Oct;55(4):648-52. [PubMed:7524315 ]
8. Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K, Kuwahara M, Ikeuchi T, Inui K, Nakajima K, et al.: Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest. 1994 Mar;93(3):1250-6. [PubMed:7510718 ]
9. Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, Seyberth HW, Rosenthal W, van Os CH, Oksche A, Deen PM: Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. Hum Mol Genet. 2002 Apr 1;11(7):779-89. [PubMed:11929850 ]
10. van Balkom BW, Savelkoul PJ, Markovich D, Hofman E, Nielsen S, van der Sluijs P, Deen PM: The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel. J Biol Chem. 2002 Nov 1;277(44):41473-9. Epub 2002 Aug 22. [PubMed:12194985 ]
11. Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ: Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum Mol Genet. 1997 Oct;6(11):1865-71. [PubMed:9302264 ]
12. Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wuhl E, Schober E, Rijss JP, Van Os CH, Deen PM: New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol. 1997 Feb;8(2):242-8. [PubMed:9048343 ]
13. Kuwahara M: Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. Intern Med. 1998 Feb;37(2):215-7. [PubMed:9550615 ]
14. Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM: An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest. 1998 Jul 1;102(1):57-66. [PubMed:9649557 ]
15. Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S: Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. J Clin Endocrinol Metab. 1998 Sep;83(9):3205-9. [PubMed:9745427 ]
16. Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Muller D, Van Os CH, Deen PM: Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J Am Soc Nephrol. 2002 Sep;13(9):2267-77. [PubMed:12191971 ]
17. Lin SH, Bichet DG, Sasaki S, Kuwahara M, Arthus MF, Lonergan M, Lin YF: Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. J Clin Endocrinol Metab. 2002 Jun;87(6):2694-700. [PubMed:12050236 ]
18. de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, Marr N, Arthus MF, Lonergan M, van Os CH, van der Sluijs P, Robertson G, Deen PM: A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. Hum Mol Genet. 2004 Dec 15;13(24):3045-56. Epub 2004 Oct 27. [PubMed:15509592 ]
19. de Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM: Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus. J Am Soc Nephrol. 2005 Oct;16(10):2872-80. Epub 2005 Aug 24. [PubMed:16120822 ]
20. Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. J Korean Med Sci. 2005 Dec;20(6):1076-8. [PubMed:16361827 ]
21. Savelkoul PJ, De Mattia F, Li Y, Kamsteeg EJ, Konings IB, van der Sluijs P, Deen PM: p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. Hum Mutat. 2009 Oct;30(10):E891-903. doi: 10.1002/humu.21082. [PubMed:19585583 ]
22. Kamsteeg EJ, Stoffels M, Tamma G, Konings IB, Deen PM: Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. Hum Mutat. 2009 Oct;30(10):1387-96. doi: 10.1002/humu.21068. [PubMed:19701945 ]