Property Summary

NCBI Gene PubMed Count 145
Grant Count 228
R01 Count 120
Funding $31,349,694.98
PubMed Score 886.95
PubTator Score 453.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.646 0.000
aldosterone-producing adenoma 1.051 0.027
psoriasis -1.300 0.000

Synonym

Accession P41181 Q9UD68 AQP-2
Symbols AQP-CD
WCH-CD

Gene

PANTHER Protein Class (1)

PDB

4NEF   4OJ2  

Gene RIF (90)

PMID Text
26714855 Partial congenital nephrogenic diabetes insipidus in the Swedish family is caused by an AQP2 variation that seems to disable the encoded AQP2-R254W protein to reach the subapical vesicle population as well as impairing its phosphorylation at S256
26261083 The study demonstrated the abnormal expression pattern of AQP1, AQP2, AQP3, and AQP4 in the kidney tissues of patients with nephrotic syndrome, providing a basis for an improved understanding of the role of aquaporins in the pathogenesis of this disease.
25902753 In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. * In rare occasions (10 %), it is caused by mutations in the AQP2 gene.
25662477 Taken together these results provide a possible molecular mechanism explaining the increased AQP2 membrane expression under RGZ treatment: in renal cells RGZ elicits Ca(2+) transients facilitating AQP2 exposure at the apical plasma membrane
25112872 AQP2 is subjected to S-glutathionylation, which is modulated by reactive oxygen species production.
24970686 In response to hypertonic saline, urinary AQP2 increased more in chronic kidney disease patients compared to controls.
24954239 U-AQP2/P-AVP is a novel predictor of response to TLV in patients with decompensated HF. AQP-defined responders may have a better prognosis on TLV treatment
24885203 results further support the view that urinary calcium can modulate the vasopressin-dependent urine concentration through a down-regulation of AQP2 expression/trafficking
24733887 These observations provide a framework for understanding why mutations in AQP2 cause nephrogenic diabetes insipidus.
24643204 The genetic polymorphisms in OCT2, AQP2, AQP9 and TMEM205 may contribute to chemotherapy response in lung cancer patients.
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AA Sequence

MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPA      1 - 70
VTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQ     71 - 140
LVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLV    141 - 210
GAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA             211 - 271
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Text Mined References (149)

PMID Year Title
26714855 2015 Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
26261083 2015 Expression pattern of aquaporins in patients with primary nephrotic syndrome with edema.
25902753 2015 Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
25662477 2015 Rosiglitazone promotes AQP2 plasma membrane expression in renal cells via a Ca-dependent/cAMP-independent mechanism.
25112872 2014 Glutathionylation of the aquaporin-2 water channel: a novel post-translational modification modulated by the oxidative stress.
24970686 2014 Abnormal urinary excretion of NKCC2 and AQP2 in response to hypertonic saline in chronic kidney disease: an intervention study in patients with chronic kidney disease and healthy controls.
24954239 2014 Increased urine aquaporin-2 relative to plasma arginine vasopressin is a novel marker of response to tolvaptan in patients with decompensated heart failure.
24944815 2014 Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.
24885203 2014 A decrease in aquaporin 2 excretion is associated with bed rest induced high calciuria.
24733887 2014 X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.
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