General Information of Drug Off-Target (DOT) (ID: OTXS6UYY)

DOT Name Aquaporin-6 (AQP6)
Synonyms AQP-6; Aquaporin-2-like; Kidney-specific aquaporin; hKID
Gene Name AQP6
Related Disease
Anxiety disorder ( )
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome ( )
Colorectal carcinoma ( )
Congenital diaphragmatic hernia ( )
Epilepsy ( )
Inflammatory bowel disease ( )
Irritable bowel syndrome ( )
KID syndrome ( )
Medulloblastoma ( )
Nephropathy ( )
Non-syndromic ichthyosis ( )
Obsessive compulsive disorder ( )
Renal cell carcinoma ( )
Benign neoplasm ( )
Meniere disease ( )
Keratitis ( )
Substance withdrawal syndrome ( )
UniProt ID
AQP6_HUMAN
3D Structure
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2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
Pfam ID
PF00230
Sequence
MDAVEPGGRGWASMLACRLWKAISRALFAEFLATGLYVFFGVGSVMRWPTALPSVLQIAI
TFNLVTAMAVQVTWKASGAHANPAVTLAFLVGSHISLPRAVAYVAAQLVGATVGAALLYG
VMPGDIRETLGINVVRNSVSTGQAVAVELLLTLQLVLCVFASTDSRQTSGSPATMIGISV
ALGHLIGIHFTGCSMNPARSFGPAIIIGKFTVHWVFWVGPLMGALLASLIYNFVLFPDTK
TLAQRLAILTGTVEVGTGAGAGAEPLKKESQPGSGAVEMESV
Function Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.
Reactome Pathway
Passive transport by Aquaporins (R-HSA-432047 )

Molecular Interaction Atlas (MIA) of This DOT

17 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Anxiety disorder DISBI2BT Definitive Biomarker [1]
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome DISXOU3H Strong Biomarker [2]
Colorectal carcinoma DIS5PYL0 Strong Biomarker [3]
Congenital diaphragmatic hernia DIS0IPVU Strong Biomarker [4]
Epilepsy DISBB28L Strong Genetic Variation [5]
Inflammatory bowel disease DISGN23E Strong Biomarker [6]
Irritable bowel syndrome DIS27206 Strong Genetic Variation [6]
KID syndrome DISRBJLW Strong Biomarker [7]
Medulloblastoma DISZD2ZL Strong Biomarker [8]
Nephropathy DISXWP4P Strong Biomarker [9]
Non-syndromic ichthyosis DISZ9QBQ Strong Biomarker [7]
Obsessive compulsive disorder DIS1ZMM2 Strong Biomarker [10]
Renal cell carcinoma DISQZ2X8 Strong Genetic Variation [11]
Benign neoplasm DISDUXAD moderate Altered Expression [12]
Meniere disease DISC5R5F moderate Altered Expression [13]
Keratitis DISMFOEI Limited Biomarker [14]
Substance withdrawal syndrome DISTT24U Limited Genetic Variation [15]
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⏷ Show the Full List of 17 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
3 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Cisplatin DMRHGI9 Approved Cisplatin increases the expression of Aquaporin-6 (AQP6). [16]
Fluorouracil DMUM7HZ Approved Fluorouracil decreases the expression of Aquaporin-6 (AQP6). [17]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the mutagenesis of Aquaporin-6 (AQP6). [18]
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References

1 Prevalence and determinants of anxiety disorders among adolescents in a rural community from northern India.Asian J Psychiatr. 2019 Jun;43:137-142. doi: 10.1016/j.ajp.2019.05.009. Epub 2019 May 3.
2 Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.Am J Med Genet. 1991 Sep 1;40(3):255-9. doi: 10.1002/ajmg.1320400302.
3 Comparison of the demographic characteristics of pediatric and adult colorectal cancer patients: a national inpatient sample based analysis.World J Pediatr. 2019 Feb;15(1):37-41. doi: 10.1007/s12519-018-0187-x. Epub 2018 Sep 27.
4 Neonatal surgery in low- vs. high-volume institutions: a KID inpatient database outcomes and cost study after repair of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis.Pediatr Surg Int. 2019 Nov;35(11):1293-1300. doi: 10.1007/s00383-019-04525-x. Epub 2019 Aug 1.
5 Assessment of the neuropsychiatric comorbidities in Chinese children with epilepsy using the MINI-KID tool.Epilepsy Res. 2018 Feb;140:8-14. doi: 10.1016/j.eplepsyres.2017.11.011. Epub 2017 Nov 24.
6 Response pattern analysis of IBD-KID: A knowledge assessment tool for children with inflammatory bowel disease.J Paediatr Child Health. 2020 Jan;56(1):155-162. doi: 10.1111/jpc.14547. Epub 2019 Jun 26.
7 Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.Audiol Neurootol. 2006;11(4):242-8. doi: 10.1159/000093110. Epub 2006 May 4.
8 Cognitive deficits and psychopathological symptoms among children with medulloblastoma.Eur J Cancer Care (Engl). 2018 Nov;27(6):e12912. doi: 10.1111/ecc.12912. Epub 2018 Sep 11.
9 Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models.Transl Res. 2018 Jul;197:1-11. doi: 10.1016/j.trsl.2018.01.007. Epub 2018 Feb 2.
10 DRD4 gene and obsessive compulsive disorder: do symptom dimensions have specific genetic correlates?.Prog Neuropsychopharmacol Biol Psychiatry. 2013 Mar 5;41:18-23. doi: 10.1016/j.pnpbp.2012.10.023. Epub 2012 Nov 2.
11 Gene expression profiling of chromophobe renal cell carcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individual tumours.Int J Biol Sci. 2009 Jul 29;5(6):517-27. doi: 10.7150/ijbs.5.517.
12 Localisation and expression of aquaporin subtypes in epithelial ovarian tumours.Histol Histopathol. 2011 Sep;26(9):1197-205. doi: 10.14670/HH-26.1197.
13 Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma.Cell Tissue Res. 2010 Jun;340(3):407-19. doi: 10.1007/s00441-010-0975-7. Epub 2010 May 12.
14 Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders.Front Mol Neurosci. 2017 Sep 22;10:298. doi: 10.3389/fnmol.2017.00298. eCollection 2017.
15 Imatinib withdrawal syndrome and longer duration of imatinib have a close association with a lower molecular relapse after treatment discontinuation: the KID study.Haematologica. 2016 Jun;101(6):717-23. doi: 10.3324/haematol.2015.139899. Epub 2016 Feb 17.
16 Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
17 New insights into the mechanisms underlying 5-fluorouracil-induced intestinal toxicity based on transcriptomic and metabolomic responses in human intestinal organoids. Arch Toxicol. 2021 Aug;95(8):2691-2718. doi: 10.1007/s00204-021-03092-2. Epub 2021 Jun 20.
18 Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells. Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:48-54. doi: 10.1016/j.mrgentox.2014.10.011. Epub 2014 Nov 4.