abnormal sodium 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 sodium ions within the body or between a cell and its external environment (Mammalian Phenotype Ontology, MP_0011977)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011977
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Genes

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

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADCY6 adenylate cyclase 6
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
AQP1 aquaporin 1 (Colton blood group)
AVPR2 arginine vasopressin receptor 2
BBS4 Bardet-Biedl syndrome 4
BRPF1 bromodomain and PHD finger containing, 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTK Bruton agammaglobulinemia tyrosine kinase
C1ORF198 chromosome 1 open reading frame 198
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBX6 chromobox homolog 6
CD200 CD200 molecule
CLDN2 claudin 2
CLDN7 claudin 7
CYBB cytochrome b-245, beta polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11
DBN1 drebrin 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE2B deoxyribonuclease II beta
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DUSP4 dual specificity phosphatase 4
FAM53B family with sequence similarity 53, member B
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FHL1 four and a half LIM domains 1
GAR1 GAR1 ribonucleoprotein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GUCA2B guanylate cyclase activator 2B (uroguanylin)
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPA4L heat shock 70kDa protein 4-like
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNK5 potassium channel, two pore domain subfamily K, member 5
LIN7C lin-7 homolog C (C. elegans)
LOC102723475 putative uncharacterized protein LOC388820
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MTA1 metastasis associated 1
MYO7A myosin VIIA
NACAD NAC alpha domain containing
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NPPA natriuretic peptide A
NR3C2 nuclear receptor subfamily 3, group C, member 2
PER2 period circadian clock 2
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
RPE65 retinal pigment epithelium-specific protein 65kDa
RXFP2 relaxin/insulin-like family peptide receptor 2
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCTR secretin receptor
SGK1 serum/glucocorticoid regulated kinase 1
SIRT2 sirtuin 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
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
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMYD2 SET and MYND domain containing 2
SPP1 secreted phosphoprotein 1
STK39 serine threonine kinase 39
SYTL1 synaptotagmin-like 1
TFCP2L1 transcription factor CP2-like 1
TGFB1 transforming growth factor, beta 1
TMEM27 transmembrane protein 27
TXNIP thioredoxin interacting protein
UMOD uromodulin
UPK2 uroplakin 2
USH1C Usher syndrome 1C (autosomal recessive, severe)
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase