abnormal circulating iron level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomalous blood concentration of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins; it is an essential component of enzymes such as catalase, peroxidase, and various cytochromes (Mammalian Phenotype Ontology, MP_0004152)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004152
Similar Terms
Downloads & Tools


44 gene mutations causing the abnormal circulating iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BTBD9 BTB (POZ) domain containing 9
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CCKBR cholecystokinin B receptor
CP ceruloplasmin (ferroxidase)
DDHD1 DDHD domain containing 1
EHD1 EH-domain containing 1
EXOC6 exocyst complex component 6
FAM132B family with sequence similarity 132, member B
FBXO7 F-box protein 7
GAST gastrin
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
IL10 interleukin 10
JAK2 Janus kinase 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KDM7A lysine (K)-specific demethylase 7A
LTF lactotransferrin
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MYO10 myosin X
NGFR nerve growth factor receptor
NPTN neuroplastin
PITX3 paired-like homeodomain 3
PRDM4 PR domain containing 4
RHAG Rh-associated glycoprotein
RHCE Rh blood group, CcEe antigens
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC38A10 solute carrier family 38, member 10
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
TF transferrin
TFR2 transferrin receptor 2
TFRC transferrin receptor
TMEM189 transmembrane protein 189
TMPRSS6 transmembrane protease, serine 6
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TTC7A tetratricopeptide repeat domain 7A
UMOD uromodulin