Aquaporin 2, Collecting Duct (AQP2)

AQP-CD; WCH-CD; ADH water channel; Aquaporin-CD; Collecting duct water channel protein; Water channel protein for renal collecting duct

SPN	W230
HGNC	634
MGI	1096865
PubMed	7539496
RGD	2142
UniProt	P41181
Wiki	Aquaporin_2

AQP2 is expressed in the principal cells of the collecting ducts in the kidney and plays a critical role in the urine concentration. A unique feature of AQP2 is that it is stored in the intracellular compartment, and upon stimulation of an antidiuretic hormone (ADH, vasopressin), AQP2 translocates to the apical plasma membrane, where it serves in the uptake of water from the lumen of the collecting duct.
The mutation of AQP2 leads to nephrogenic diabetes insipidus, the inability to concentrate urine. In the recessive nephrogenic diabetes insipidus, mutated AQP2 is retained in the endoplasmic reticulum, whereas in the dominant types, it is localized in the Golgi complex, lysosome, or basolateral plasma membrane.

Reference

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Science 264:92-94(1994) [PubMed] [Europe PMC] [Abstract]

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J. Biol. Chem. 269:23451-23455(1994) [PubMed] [Europe PMC] [Abstract]

"Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene."
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"Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct."
J. Clin. Invest. 93:1250-1256(1994) [PubMed] [Europe PMC] [Abstract]

"Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus."
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"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel."
J. Biol. Chem. 277:41473-41479(2002) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus."
Hum. Genet. 98:587-589(1996) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response."
Hum. Mol. Genet. 6:1865-1871(1997) [PubMed] [Europe PMC] [Abstract]

"New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels."
J. Am. Soc. Nephrol. 8:242-248(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus."
J. Am. Soc. Nephrol. 8:1855-1862(1997) [PubMed] [Europe PMC] [Abstract]

"Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus."
Intern. Med. 37:215-217(1998) [PubMed] [Europe PMC] [Abstract]

"An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex."
J. Clin. Invest. 102:57-66(1998) [PubMed] [Europe PMC] [Abstract]

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J. Clin. Endocrinol. Metab. 83:3205-3209(1998) [PubMed] [Europe PMC] [Abstract]

"Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus."
J. Am. Soc. Nephrol. 13:2267-2277(2002) [PubMed] [Europe PMC] [Abstract]

"Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families."
J. Clin. Endocrinol. Metab. 87:2694-2700(2002) [PubMed] [Europe PMC] [Abstract]

"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. 13:3045-3056(2004) [PubMed] [Europe PMC] [Abstract]

"Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus."
J. Am. Soc. Nephrol. 16:2872-2880(2005) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus."
J. Korean Med. Sci. 20:1076-1078(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations underlying nephrogenic diabetes insipidus in Arab families."
Genet. Med. 8:443-447(2006) [PubMed] [Europe PMC] [Abstract]

"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. 30:E891-E903(2009) [PubMed] [Europe PMC] [Abstract]

"Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus."
Hum. Mutat. 30:1387-1396(2009) [PubMed] [Europe PMC] [Abstract]

"Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene."
Biomed. Rep. 2:596-598(2014) [PubMed] [Europe PMC] [Abstract]