Skip to main content
. 2021 Mar 16;12:654865. doi: 10.3389/fgene.2021.654865

TABLE 1.

Human AQPs major characteristics from chromosomal location to physiological relevance with the pathophysiological phenotypes due to their dysregulation, mutation, and dysfunction.

AQPs Chromosomal location Exon number Permeability Tissue expression Physiological function Pathophysiological phenotype due to dysregulation, mutation, and dysfunction of AQPs References
AQP0 12q13 8 Water, CO2, ascorbic acid, cations Eye Corneal and lens transparency and homeostasis Cataract Kannan et al., 2001; Verkman et al., 2008b; Day et al., 2014; Li and Wang, 2017; Laloux et al., 2018
AQP1 7p14 7 Water, monovalent cations, H2O2, CO2, NO, NH3 Brain, eye, kidney, trachea, heart, lung, gastrointestinal tract, salivary gland, pancreas, liver, ovary, testis, muscle, erythrocytes, spleen Osmotic water flux in tissues including eye, brain (choroid plexus), kidney and the vascular system Diuresis, reduced tumor angiogenesis, reduced intraocular pressure, reduced CSF secretion, reduced nociception, astrocytoma, cholangiocarcinoma; breast, cervical, colorectal, lung, ovarian, laryngeal and nasopharyngeal cancers Boassa and Yool, 2003; Day et al., 2014; Li and Wang, 2017; Laloux et al., 2018
AQP2 12q13 4 Water Kidney, ear, ductus deferens Maintains urine concentration and water homeostasis in renal system Nephrogenic diabetes insipidus; congestive heart failure, liver cirrhosis and pre-eclampsia Radin et al., 2012; Li and Wang, 2017; Laloux et al., 2018
AQP3 9p13 6 Water, urea, glycerol, ammonia, silicon, arsenite, H2O2 Kidney, brain, trachea, heart, ovary, eye, salivary gland, gastrointestinal tract, liver, Respiratory tract, brain, Water and glycerol channel, facilitates skin hydration and also involved in cell migration during wound healing Diuresis, dry skin, reduced growth of skin tumors, impaired skin wound healing, impaired regeneration of colonic epithelium and impaired leukocyte function; colorectal, cervical, liver, lung, esophageal cancers Day et al., 2014; Li and Wang, 2017; Marlar et al., 2017; Laloux et al., 2018
erythrocyte, fat, spleen
AQP4 18q22 6 Water, CO2 Brain, eye, kidney, salivary gland, heart, gastrointestinal tract, muscle, trachea Controls brain and kidney water homeostasis; cell migration, brain edema, metabolism and cell homeostasis Reduced cytotoxic or increased vasogenic CNS edema, accelerated obstructive hydrocephalus, increased seizure threshold and duration, deafness and anosmia; meningioma, astrocytoma, breast, and lung cancer Day et al., 2014; Papadopoulos and Saadoun, 2015; Li and Wang, 2017; Laloux et al., 2018
AQP5 12q13 5 Water, H2O2, CO2 Salivary gland, eye, trachea, lung, gastrointestinal tract, ovary, kidney Controls water homeostasis Reduced saliva secretion, reduced airway submucosal secretion, thin cornea and reduced tear volume; ovarian, breast, colorectal, cervical, leukemia, liver, lung, esophageal cancers Day et al., 2014; Direito et al., 2016; Li and Wang, 2017; Laloux et al., 2018
AQP6 12q13 4 Water, urea, anion, ammonia, CO2, glycerol Brain, kidney Glomerular filtration, tubular endocytosis, and acid-base metabolism Not yet reported Yasui et al., 1999; Day et al., 2014; Li and Wang, 2017; Laloux et al., 2018; Shchepareva and Zakharova, 2020
AQP7 9p13 10 Water, urea, glycerol, ammonia, arsenite, antimonite and silicon Testis, heart, kidney, ovary, fat Energy homeostasis; spermatogenesis; facilitates glycerol efflux from adipocytes, prevent intracellular glycerol, and triglyceride accumulation Obesity, insulin resistance, and hyperglyceroluria Verkman, 2012; Day et al., 2014; Li and Wang, 2017; Iena and Lebeck, 2018; Laloux et al., 2018
AQP8 16p12 6 Water, urea, ammonia, H2O2, and glycerol Testis, liver, pancreas, ovary, lung, and kidney Water trafficking from lumen to the interstitium by a transcellular route; modulates membrane water permeability Astrocytoma, colorectal and liver cancers, cerebral edema, inflammatory bowel diseases Day et al., 2014; Pelagalli et al., 2016; Laloux et al., 2018; Prata et al., 2019; Escudero-Hernández et al., 2020; Shchepareva and Zakharova, 2020
AQP9 15q22 6 Water, urea, glycerol, arsenite, H2O2, antimonite, silicon, lactic acid, and CO2 Liver, spleen, testis, ovary, Regulates neutrophil cell migration; maintains energy balance in neurons by enabling the diffusion of glycerol and monocarboxylates; metabolic regulation in diabetes and obesity Hyperglycerolaemia and reduced red cell glycerol permeability; astrocytoma, liver, and ovarian cancer Li and Wang, 2017; Laloux et al., 2018; Shchepareva and Zakharova, 2020
leukocyte
AQP10 1q21 6 Water, urea, glycerol, arsenic, antimonite, silicon Intestine, keratinocytes of the epidermis, adipose tissue Carrier and channel for glycerol and other solutes transport Not yet reported Day et al., 2014; da Silva and Soveral, 2017; Li and Wang, 2017; Laloux et al., 2018
AQP11 11q13 3 Water and glycerol Testis, heart, kidney, ovary, muscle, gastrointestinal tract, leukocytes, liver, and brain Maintains normal urine concentration and renal function Polycystic kidneys and Day et al., 2014; Li and Wang, 2017; Laloux et al., 2018; Han et al., 2019
hepatocyte vacuolization,
chronic kidney disease
AQP12 2q37 4 Not yet reported Pancreas Not yet reported Pancreatitis Ohta et al., 2009; Day et al., 2014; Li and Wang, 2017; Laloux et al., 2018