abnormal calcium 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 calcium ions within the body or between a cell and its external environment (Mammalian Phenotype Ontology, MP_0004231)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004231
Similar Terms
Downloads & Tools

Genes

111 gene mutations causing the abnormal calcium 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
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACSL4 acyl-CoA synthetase long-chain family member 4
ADCY6 adenylate cyclase 6
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ARID4A AT rich interactive domain 4A (RBP1-like)
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CALCB calcitonin-related polypeptide beta
CALR calreticulin
CASR calcium-sensing receptor
CATSPER1 cation channel, sperm associated 1
CAV1 caveolin 1, caveolae protein, 22kDa
CISD2 CDGSH iron sulfur domain 2
CLDN16 claudin 16
CLDN4 claudin 4
CLEC2D C-type lectin domain family 2, member D
COL4A5 collagen, type IV, alpha 5
CPEB3 cytoplasmic polyadenylation element binding protein 3
CRH corticotropin releasing hormone
CSF1 colony stimulating factor 1 (macrophage)
CUL7 cullin 7
CYB561 cytochrome b561
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DFNB31 deafness, autosomal recessive 31
DMPK dystrophia myotonica-protein kinase
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAM20C family with sequence similarity 20, member C
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FGF23 fibroblast growth factor 23
FSHR follicle stimulating hormone receptor
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GRHL3 grainyhead-like 3 (Drosophila)
GSE1 Gse1 coiled-coil protein
HBP1 HMG-box transcription factor 1
HSPA4L heat shock 70kDa protein 4-like
IL6ST interleukin 6 signal transducer
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
KL klotho
LIX1L Lix1 homolog (chicken) like
LRP5 low density lipoprotein receptor-related protein 5
LYPD3 LY6/PLAUR domain containing 3
MED11 mediator complex subunit 11
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPZL3 myelin protein zero-like 3
MRAP2 melanocortin 2 receptor accessory protein 2
MYO7A myosin VIIA
NDFIP2 Nedd4 family interacting protein 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PLCE1 phospholipase C, epsilon 1
PLCL2 phospholipase C-like 2
PLVAP plasmalemma vesicle associated protein
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRLR prolactin receptor
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
RNF7 ring finger protein 7
RXFP2 relaxin/insulin-like family peptide receptor 2
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
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
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SOD2 superoxide dismutase 2, mitochondrial
STIM1 stromal interaction molecule 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM189 transmembrane protein 189
TMEM38B transmembrane protein 38B
TOX3 TOX high mobility group box family member 3
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPV5 transient receptor potential cation channel, subfamily V, member 5
UMOD uromodulin
USP24 ubiquitin specific peptidase 24
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
WWOX WW domain containing oxidoreductase
XDH xanthine dehydrogenase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble