abnormal potassium ion homeostasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the processes involved in the maintenance of an internal equilibrium of potassium ions within the body or between a cell and its external environment (Mammalian Phenotype Ontology, MP_0011978)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011978
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Genes

65 gene mutations causing the abnormal potassium ion homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADCY6 adenylate cyclase 6
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AR androgen receptor
ARRB2 arrestin, beta 2
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BSND barttin CLCNK-type chloride channel accessory beta subunit
CASQ2 calsequestrin 2 (cardiac muscle)
CLDN7 claudin 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CYB561 cytochrome b561
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11
FPGS folylpolyglutamate synthase
FXYD4 FXYD domain containing ion transport regulator 4
GUCA2B guanylate cyclase activator 2B (uroguanylin)
HNF4A hepatocyte nuclear factor 4, alpha
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IFT20 intraflagellar transport 20
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KEL Kell blood group, metallo-endopeptidase
LIX1L Lix1 homolog (chicken) like
LOC102723475 putative uncharacterized protein LOC388820
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MYBPC3 myosin binding protein C, cardiac
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NR3C2 nuclear receptor subfamily 3, group C, member 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PHEX phosphate regulating endopeptidase homolog, X-linked
PHTF2 putative homeodomain transcription factor 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
POU3F3 POU class 3 homeobox 3
REN renin
RHCG Rh family, C glycoprotein
RYR1 ryanodine receptor 1 (skeletal)
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCTR secretin receptor
SECISBP2 SECIS binding protein 2
SGK1 serum/glucocorticoid regulated kinase 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
STK39 serine threonine kinase 39
TFCP2L1 transcription factor CP2-like 1
TGFB1 transforming growth factor, beta 1
TXNIP thioredoxin interacting protein
UMOD uromodulin
UPK2 uroplakin 2
USH1C Usher syndrome 1C (autosomal recessive, severe)
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNK4 WNK lysine deficient protein kinase 4
WWOX WW domain containing oxidoreductase
ZBTB20 zinc finger and BTB domain containing 20