abnormal iron 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 iron that normally is a cofactor 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_0005637)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005637
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88 gene mutations causing the abnormal iron homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACO1 aconitase 1, soluble
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
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 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
FTH1 ferritin, heavy polypeptide 1
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
RASD1 RAS, dexamethasone-induced 1
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