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ASIC2 | Acid sensing ion channel subunit 2 (563 aa) | |||
ASIC1 | Acid-sensing ion channel 1; Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry [...] (574 aa) | |||
PKD2 | Polycystin-2; Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum. Together with TRPV4, forms mechano- and thermosensitive channels in cilium. PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, to [...] (968 aa) | |||
DSTN | Destrin; Actin-depolymerizing protein. Severs actin filaments (F- actin) and binds to actin monomers (G-actin). Acts in a pH- independent manner (165 aa) | |||
PKDREJ | Polycystic kidney disease and receptor for egg jelly-related protein; May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm; Belongs to the polycystin family (2253 aa) | |||
PKD1 | Polycystin-1; Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be a [...] (4303 aa) | |||
SORD | Sorbitol dehydrogenase; Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm; Belongs to the zinc-containing alcohol dehydrogenase family (357 aa) | |||
PKD1L1 | Polycystic kidney disease protein 1-like 1; Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow- forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning; Belongs to the polycystin family (2849 aa) | |||
PKD2L2 | Polycystic kidney disease 2-like 2 protein; May function as a subunit of a cation channel and play a role in fertilization; Belongs to the polycystin family (613 aa) | |||
ASIC3 | Acid-sensing ion channel 3; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties (549 aa) | |||
SCNN1G | Amiloride-sensitive sodium channel subunit gamma; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception (649 aa) | |||
LOXHD1 | Lipoxygenase homology domain-containing protein 1; Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity); Deafness associated genes (1114 aa) | |||
PIEZO1 | Piezo-type mechanosensitive ion channel component 1; Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling. In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor th [...] (2521 aa) | |||
TSPAN5 | Tetraspanin-5; Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44; Tetraspanins (268 aa) | |||
PKD2L1 | Polycystic kidney disease 2-like 1 protein; Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect; Belongs to the polycystin family (805 aa) | |||
ASIC4 | Acid-sensing ion channel 4; Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity; Acid sensing ion channel subunits (647 aa) | |||
VAPA | Vesicle-associated membrane protein-associated protein A; VAMP associated protein A (294 aa) | |||
CYP20A1 | Cytochrome P450 family 20 subfamily A member 1 (462 aa) | |||
SCNN1A | Amiloride-sensitive sodium channel subunit alpha; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception (728 aa) | |||
SCNN1D | Amiloride-sensitive sodium channel subunit delta; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception (802 aa) | |||
GJB2 | Gap junction beta-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Deafness associated genes (226 aa) | |||
ASIC5 | Acid-sensing ion channel 5; Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily (505 aa) | |||
RAB5C | Ras-related protein Rab-5C; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases (249 aa) | |||
PKD1L3 | Polycystic kidney disease protein 1-like 3; Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect; C-type lectin domain containing (1732 aa) | |||
ENSG00000279362 | Polycystic kidney disease protein 1-like 2; May function as an ion-channel regulator. May function as a G-protein-coupled receptor; C-type lectin domain containing (306 aa) | |||
PC1L2 | Polycystic kidney disease protein 1-like 2; May function as an ion-channel regulator. May function as a G-protein-coupled receptor; Belongs to the polycystin family (1757 aa) |