abnormal 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 charged molecules in the fluids and tissues (Mammalian Phenotype Ontology, MP_0001765)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001765
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ACO1 aconitase 1, soluble
ACP2 acid phosphatase 2, lysosomal
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTR6 ARP6 actin-related protein 6 homolog (yeast)
ACVR1B activin A receptor, type IB
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADCY6 adenylate cyclase 6
ADD2 adducin 2 (beta)
ADGRB1 adhesion G protein-coupled receptor B1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALAS2 5'-aminolevulinate synthase 2
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANXA7 annexin A7
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AQP1 aquaporin 1 (Colton blood group)
AR androgen receptor
ARID4A AT rich interactive domain 4A (RBP1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARRB2 arrestin, beta 2
ATOX1 antioxidant 1 copper chaperone
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVPR2 arginine vasopressin receptor 2
B2M beta-2-microglobulin
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BRPF1 bromodomain and PHD finger containing, 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTBD9 BTB (POZ) domain containing 9
BTK Bruton agammaglobulinemia tyrosine kinase
C1ORF198 chromosome 1 open reading frame 198
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CALCB calcitonin-related polypeptide beta
CALR calreticulin
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CASQ2 calsequestrin 2 (cardiac muscle)
CASR calcium-sensing receptor
CATSPER1 cation channel, sperm associated 1
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CBX6 chromobox homolog 6
CCKBR cholecystokinin B receptor
CCS copper chaperone for superoxide dismutase
CD200 CD200 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CISD2 CDGSH iron sulfur domain 2
CLDN16 claudin 16
CLDN2 claudin 2
CLDN4 claudin 4
CLDN7 claudin 7
CLEC2D C-type lectin domain family 2, member D
CLN3 ceroid-lipofuscinosis, neuronal 3
COL4A5 collagen, type IV, alpha 5
COX19 COX19 cytochrome c oxidase assembly factor
CP ceruloplasmin (ferroxidase)
CPEB3 cytoplasmic polyadenylation element binding protein 3
CRH corticotropin releasing hormone
CSF1 colony stimulating factor 1 (macrophage)
CUL7 cullin 7
CYB561 cytochrome b561
CYBB cytochrome b-245, beta polypeptide
CYBRD1 cytochrome b reductase 1
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
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
DBN1 drebrin 1
DDHD1 DDHD domain containing 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DFNB31 deafness, autosomal recessive 31
DMPK dystrophia myotonica-protein kinase
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
EHD1 EH-domain containing 1
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
ELMOD1 ELMO/CED-12 domain containing 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EPO erythropoietin
EXOC6 exocyst complex component 6
F10 coagulation factor X
FAM117B family with sequence similarity 117, member B
FAM132B family with sequence similarity 132, member B
FAM20C family with sequence similarity 20, member C
FAM53B family with sequence similarity 53, member B
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FBXL5 F-box and leucine-rich repeat protein 5
FBXO7 F-box protein 7
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
FOXP3 forkhead box P3
FPGS folylpolyglutamate synthase
FSHR follicle stimulating hormone receptor
FTH1 ferritin, heavy polypeptide 1
FXN frataxin
FXYD4 FXYD domain containing ion transport regulator 4
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAR1 GAR1 ribonucleoprotein
GAST gastrin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCM2 glial cells missing homolog 2 (Drosophila)
GFAP glial fibrillary acidic protein
GHR growth hormone receptor
GIMAP6 GTPase, IMAP family member 6
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GLMP glycosylated lysosomal membrane protein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GPC5 glypican 5
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRHL3 grainyhead-like 3 (Drosophila)
GSE1 Gse1 coiled-coil protein
GUCA2B guanylate cyclase activator 2B (uroguanylin)
HAMP hepcidin antimicrobial peptide
HBP1 HMG-box transcription factor 1
HEPH hephaestin
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HK1 hexokinase 1
HMOX1 heme oxygenase 1
HMOX2 heme oxygenase 2
HNF4A hepatocyte nuclear factor 4, alpha
HP haptoglobin
HPX hemopexin
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPA4L heat shock 70kDa protein 4-like
HYAL2 hyaluronoglucosaminidase 2
IFT20 intraflagellar transport 20
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
IREB2 iron-responsive element binding protein 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNK1 potassium channel, two pore domain subfamily K, member 1
KCNK5 potassium channel, two pore domain subfamily K, member 5
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KDM7A lysine (K)-specific demethylase 7A
KEL Kell blood group, metallo-endopeptidase
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
LIN7C lin-7 homolog C (C. elegans)
LIX1L Lix1 homolog (chicken) like
LOC102723475 putative uncharacterized protein LOC388820
LONRF3 LON peptidase N-terminal domain and ring finger 3
LRP5 low density lipoprotein receptor-related protein 5
LTF lactotransferrin
LYPD3 LY6/PLAUR domain containing 3
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCF2L MCF.2 cell line derived transforming sequence-like
MED11 mediator complex subunit 11
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZL3 myelin protein zero-like 3
MRAP2 melanocortin 2 receptor accessory protein 2
MTA1 metastasis associated 1
MTA3 metastasis associated 1 family, member 3
MYBPC3 myosin binding protein C, cardiac
MYO10 myosin X
MYO6 myosin VI
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NACAD NAC alpha domain containing
NDFIP2 Nedd4 family interacting protein 2
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NPPA natriuretic peptide A
NPTN neuroplastin
NR3C2 nuclear receptor subfamily 3, group C, member 2
ORAI1 ORAI calcium release-activated calcium modulator 1
OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1
P2RY2 purinergic receptor P2Y, G-protein coupled, 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PER2 period circadian clock 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PHTF2 putative homeodomain transcription factor 2
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PITX3 paired-like homeodomain 3
PKLR pyruvate kinase, liver and RBC
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PLCE1 phospholipase C, epsilon 1
PLCL2 phospholipase C-like 2
PLVAP plasmalemma vesicle associated protein
POU3F3 POU class 3 homeobox 3
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRDM4 PR domain containing 4
PRDX2 peroxiredoxin 2
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRLR prolactin receptor
PRNP prion protein
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTK2B protein tyrosine kinase 2 beta
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RASD1 RAS, dexamethasone-induced 1
REN renin
RHAG Rh-associated glycoprotein
RHCE Rh blood group, CcEe antigens
RHCG Rh family, C glycoprotein
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RNF7 ring finger protein 7
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL38 ribosomal protein L38
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RXFP2 relaxin/insulin-like family peptide receptor 2
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SATB2 SATB homeobox 2
SCG5 secretogranin V
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
SCO2 SCO2 cytochrome c oxidase assembly protein
SCTR secretin receptor
SECISBP2 SECIS binding protein 2
SERF1A small EDRK-rich factor 1A (telomeric)
SETMAR SET domain and mariner transposase fusion gene
SFRP1 secreted frizzled-related protein 1
SGK1 serum/glucocorticoid regulated kinase 1
SIRT2 sirtuin 2
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC22A6 solute carrier family 22 (organic anion transporter), member 6
SLC22A8 solute carrier family 22 (organic anion transporter), member 8
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC31A1 solute carrier family 31 (copper transporter), member 1
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
SLC38A10 solute carrier family 38, member 10
SLC39A2 solute carrier family 39 (zinc transporter), member 2
SLC40A1 solute carrier family 40 (iron-regulated transporter), 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
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMYD2 SET and MYND domain containing 2
SOD2 superoxide dismutase 2, mitochondrial
SPIC Spi-C transcription factor (Spi-1/PU.1 related)
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STARD8 StAR-related lipid transfer (START) domain containing 8
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STK39 serine threonine kinase 39
SYTL1 synaptotagmin-like 1
TF transferrin
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFCP2L1 transcription factor CP2-like 1
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TK1 thymidine kinase 1, soluble
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM189 transmembrane protein 189
TMEM27 transmembrane protein 27
TMEM38B transmembrane protein 38B
TMEM68 transmembrane protein 68
TMPRSS6 transmembrane protease, serine 6
TOX3 TOX high mobility group box family member 3
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIB1 tribbles pseudokinase 1
TRIM45 tripartite motif containing 45
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TTC7A tetratricopeptide repeat domain 7A
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
TXNIP thioredoxin interacting protein
UMOD uromodulin
UPK2 uroplakin 2
UROS uroporphyrinogen III synthase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USP24 ubiquitin specific peptidase 24
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
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
XDH xanthine dehydrogenase
XK X-linked Kx blood group
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
XYLB xylulokinase homolog (H. influenzae)
ZBTB20 zinc finger and BTB domain containing 20
ZNF175 zinc finger protein 175