abnormal renal reabsorbtion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorbtion begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules (Mammalian Phenotype Ontology, MP_0010107)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010107
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Genes

28 gene mutations causing the abnormal renal reabsorbtion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY6 adenylate cyclase 6
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
CAV1 caveolin 1, caveolae protein, 22kDa
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CLDN2 claudin 2
CLDN4 claudin 4
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11
FGF23 fibroblast growth factor 23
HNF1A HNF1 homeobox A
KCNK1 potassium channel, two pore domain subfamily K, member 1
NOS1 nitric oxide synthase 1 (neuronal)
NPPA natriuretic peptide A
NR3C2 nuclear receptor subfamily 3, group C, member 2
PHEX phosphate regulating endopeptidase homolog, X-linked
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
TRPV5 transient receptor potential cation channel, subfamily V, member 5