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CASR CASR SLC12A3 SLC12A3 KCNJ1 KCNJ1 SLC12A1 SLC12A1 GRXCR1 GRXCR1 CLCNKB CLCNKB CLCNKA CLCNKA BSND BSND SLC9A1 SLC9A1 ARL2 ARL2 ARL3 ARL3
"BSND" - Bartter syndrome, infantile, with sensorineural deafness in Homo sapiens
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BSNDBartter syndrome, infantile, with sensorineural deafness (Barttin); Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter (320 aa)    
Predicted Functional Partners:
CLCNKA
chloride channel, voltage-sensitive Ka; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms (687 aa)
            score_image   0.889
CLCNKB
chloride channel, voltage-sensitive Kb; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms (687 aa)
            score_image   0.888
SLC12A1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1; Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume (1099 aa)
            score_image   0.753
SLC12A3
solute carrier family 12 (sodium/chloride transporters), member 3; Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant fraction of renal sodium reabsorption (1030 aa)
            score_image   0.742
KCNJ1
potassium inwardly-rectifying channel, subfamily J, member 1; In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by [...] (391 aa)
            score_image   0.700
ARL2
ADP-ribosylation factor-like 2; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of T [...] (184 aa)
        score_image   score_image   0.623
ARL3
ADP-ribosylation factor-like 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase- activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into [...] (182 aa)
        score_image       0.571
SLC9A1
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (815 aa)
            score_image   0.562
GRXCR1
glutaredoxin, cysteine rich 1; May play a role in actin filament architecture in developing stereocilia of sensory cells (By similarity) (290 aa)
            score_image   0.505
CASR
calcium-sensing receptor; Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G- protein that activates a phosphatidylinositol-calcium second messenger system (1088 aa)
            score_image   0.499
Your Current Organism:
Homo sapiens
NCBI taxonomy Id: 9606
Other names: H. sapiens, Homo, Homo sapiens, human, man
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