abnormal urine 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 the various chemical or protein components of the urine (Mammalian Phenotype Ontology, MP_0009643)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009643
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Genes

336 gene mutations causing the abnormal urine homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ACADL acyl-CoA dehydrogenase, long chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACE angiotensin I converting enzyme
ACTN4 actinin, alpha 4
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADCY6 adenylate cyclase 6
ADIPOQ adiponectin, C1Q and collagen domain containing
AGA aspartylglucosaminidase
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AGTRAP angiotensin II receptor-associated protein
AGXT alanine-glyoxylate aminotransferase
AHR aryl hydrocarbon receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALMS1 Alstrom syndrome protein 1
AMPD2 adenosine monophosphate deaminase 2
ANO1 anoctamin 1, calcium activated chloride channel
APLNR apelin receptor
APRT adenine phosphoribosyltransferase
AQP1 aquaporin 1 (Colton blood group)
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
AQP3 aquaporin 3 (Gill blood group)
AQP4 aquaporin 4
AQP7 aquaporin 7
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARSB arylsulfatase B
ASIP agouti signaling protein
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BDKRB2 bradykinin receptor B2
BHMT betaine--homocysteine S-methyltransferase
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C3 complement component 3
CALCB calcitonin-related polypeptide beta
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCNI cyclin I
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CD151 CD151 molecule (Raph blood group)
CD1D CD1d molecule
CD2AP CD2-associated protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CD63 CD63 molecule
CDK4 cyclin-dependent kinase 4
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CFH complement factor H
CHGA chromogranin A
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLCN5 chloride channel, voltage-sensitive 5
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN2 claudin 2
CLDN4 claudin 4
CLDN7 claudin 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CLU clusterin
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
CORIN corin, serine peptidase
CRH corticotropin releasing hormone
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CTBS chitobiase, di-N-acetyl-
CTH cystathionine gamma-lyase
CXCR3 chemokine (C-X-C motif) receptor 3
CYBB cytochrome b-245, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11
CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12
CYS1 cystin 1
DBT dihydrolipoamide branched chain transacylase E2
DDR1 discoidin domain receptor tyrosine kinase 1
DIO1 deiodinase, iodothyronine, type I
DIO2 deiodinase, iodothyronine, type II
DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
ECI1 enoyl-CoA delta isomerase 1
ERCC1 excision repair cross-complementation group 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETHE1 ethylmalonic encephalopathy 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FERMT1 fermitin family member 1
FN3K fructosamine 3 kinase
FOXI1 forkhead box I1
FTO fat mass and obesity associated
GADD45A growth arrest and DNA-damage-inducible, alpha
GALNS galactosamine (N-acetyl)-6-sulfatase
GAMT guanidinoacetate N-methyltransferase
GAS6 growth arrest-specific 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GDF15 growth differentiation factor 15
GIPC1 GIPC PDZ domain containing family, member 1
GLIS2 GLIS family zinc finger 2
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
GSTZ1 glutathione S-transferase zeta 1
GUCA2B guanylate cyclase activator 2B (uroguanylin)
GUSB glucuronidase, beta
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HMBS hydroxymethylbilane synthase
HNF1A HNF1 homeobox A
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPX hemopexin
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IFT88 intraflagellar transport 88
IKZF3 IKAROS family zinc finger 3 (Aiolos)
INS insulin
INSR insulin receptor
JAK1 Janus kinase 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNK1 potassium channel, two pore domain subfamily K, member 1
KCNK5 potassium channel, two pore domain subfamily K, member 5
KIRREL kin of IRRE like (Drosophila)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF15 Kruppel-like factor 15
LAMA5 laminin, alpha 5
LAMB2 laminin, beta 2 (laminin S)
LAT linker for activation of T cells
LCAT lecithin-cholesterol acyltransferase
LEP leptin
LEPR leptin receptor
LGMN legumain
LHCGR luteinizing hormone/choriogonadotropin receptor
LIN7C lin-7 homolog C (C. elegans)
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRRK2 leucine-rich repeat kinase 2
LYN LYN proto-oncogene, Src family tyrosine kinase
LYST lysosomal trafficking regulator
M6PR mannose-6-phosphate receptor (cation dependent)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
MAN2A1 mannosidase, alpha, class 2A, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAOB monoamine oxidase B
MARK2 MAP/microtubule affinity-regulating kinase 2
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MEP1B meprin A, beta
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR192 microRNA 192
MMP17 matrix metallopeptidase 17 (membrane-inserted)
MOCS1 molybdenum cofactor synthesis 1
MPV17 MpV17 mitochondrial inner membrane protein
MTA2 metastasis associated 1 family, member 2
MTSS1 metastasis suppressor 1
MUT methylmalonyl CoA mutase
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NCOA1 nuclear receptor coactivator 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NEUROG3 neurogenin 3
NFE2L2 nuclear factor, erythroid 2-like 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPR3 natriuretic peptide receptor 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
NXPH4 neurexophilin 4
OAT ornithine aminotransferase
OIT3 oncoprotein induced transcript 3
OTC ornithine carbamoyltransferase
OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
PAH phenylalanine hydroxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
PDC phosducin
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEPD peptidase D
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PNP purine nucleoside phosphorylase
POMC proopiomelanocortin
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PSAP prosaposin
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRC protein tyrosine phosphatase, receptor type, C
PXMP2 peroxisomal membrane protein 2, 22kDa
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
REN renin
RENBP renin binding protein
RHCG Rh family, C glycoprotein
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCARB2 scavenger receptor class B, member 2
SCARF1 scavenger receptor class F, member 1
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCTR secretin receptor
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGK1 serum/glucocorticoid regulated kinase 1
SIGLEC15 sialic acid binding Ig-like lectin 15
SIM1 single-minded family bHLH transcription factor 1
SIRT1 sirtuin 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC22A6 solute carrier family 22 (organic anion transporter), member 6
SLC22A8 solute carrier family 22 (organic anion transporter), member 8
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SLC26A7 solute carrier family 26 (anion exchanger), member 7
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
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
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOCS2 suppressor of cytokine signaling 2
SOD2 superoxide dismutase 2, mitochondrial
SPP1 secreted phosphoprotein 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5B signal transducer and activator of transcription 5B
STK39 serine threonine kinase 39
SYK spleen tyrosine kinase
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFCP2L1 transcription factor CP2-like 1
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TMEM27 transmembrane protein 27
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNIP1 TNFAIP3 interacting protein 1
TNS2 tensin 2
TRIM21 tripartite motif containing 21
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TTC7A tetratricopeptide repeat domain 7A
TXNIP thioredoxin interacting protein
UMOD uromodulin
UOX urate oxidase, pseudogene
UPK2 uroplakin 2
UPK3A uroplakin 3A
UPP1 uridine phosphorylase 1
UROS uroporphyrinogen III synthase
VAMP8 vesicle-associated membrane protein 8
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WAS Wiskott-Aldrich syndrome
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble