abnormal iron level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentrations of the metallic element that normally occurs in the heme of hemoglobin, myoglobin, transferrin, ferritin, and iron-containing porphyrins and is an essential component of enzymes such as catalase, peroxidase, and various cytochromes (Mammalian Phenotype Ontology, MP_0001770)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001770
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84 gene mutations causing the abnormal iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADD2 adducin 2 (beta)
ALAS2 5'-aminolevulinate synthase 2
ANK1 ankyrin 1, erythrocytic
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
B2M beta-2-microglobulin
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BTBD9 BTB (POZ) domain containing 9
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CBS cystathionine-beta-synthase
CCKBR cholecystokinin B receptor
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CP ceruloplasmin (ferroxidase)
CYBRD1 cytochrome b reductase 1
DDHD1 DDHD domain containing 1
EHD1 EH-domain containing 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
FAM132B family with sequence similarity 132, member B
FBXL5 F-box and leucine-rich repeat protein 5
FBXO7 F-box protein 7
FOXP3 forkhead box P3
FXN frataxin
GAST gastrin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GFAP glial fibrillary acidic protein
GLMP glycosylated lysosomal membrane protein
HAMP hepcidin antimicrobial peptide
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
HYAL2 hyaluronoglucosaminidase 2
IL10 interleukin 10
IREB2 iron-responsive element binding protein 2
JAK2 Janus kinase 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KDM7A lysine (K)-specific demethylase 7A
KLF1 Kruppel-like factor 1 (erythroid)
LTF lactotransferrin
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MYO10 myosin X
NFE2L2 nuclear factor, erythroid 2-like 2
NGFR nerve growth factor receptor
NPTN neuroplastin
PICALM phosphatidylinositol binding clathrin assembly protein
PITX3 paired-like homeodomain 3
PKLR pyruvate kinase, liver and RBC
PRDM4 PR domain containing 4
PRDX2 peroxiredoxin 2
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
RHAG Rh-associated glycoprotein
RHCE Rh blood group, CcEe antigens
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC31A1 solute carrier family 31 (copper transporter), member 1
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
SPIC Spi-C transcription factor (Spi-1/PU.1 related)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STEAP3 STEAP family member 3, metalloreductase
TF transferrin
TFR2 transferrin receptor 2
TFRC transferrin receptor
TK1 thymidine kinase 1, soluble
TMEM189 transmembrane protein 189
TMPRSS6 transmembrane protease, serine 6
TRIB1 tribbles pseudokinase 1
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TTC7A tetratricopeptide repeat domain 7A
UMOD uromodulin
UROS uroporphyrinogen III synthase