SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Disease: Iron deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE We hypothesized that expression of colonic DMT1 and FPN1 will also increase to compensate for iron deficiency. 31721611 2020
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE 2 and 6 μm ELT increased Tfr1 and Slc11a2 (iron-responsive genes involved in neuronal iron uptake) mRNA levels, indicating neuronal ID. 28005311 2017
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 GeneticVariation disease BEFREE In mk/mk mice, erythropoietin administration increased activation of signal transducer and activator of transcription 5 (STAT5) and reduced apoptosis in bone marrow and spleen erythroblasts. mk/mk mice propagated on the 129S6/SvEvTac background resembled DMT1-mutant patients in having increased plasma iron but differed by having functional iron deficiency after erythropoietin administration. 22580996 2012
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE Reduced AMPK levels lead to diminished expression of the DMT1 iron transporter, and the resulting cytosolic iron deficiency activates the iron regulatory proteins, IRP1 and IRP2, and increases expression of the hypoxia inducible factor HIF-1α, but not HIF-2α. 21907923 2011
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE The expression of divalent metal transporter 1 and ferroportin was increased in CD with or without iron deficiency. 19404207 2009
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE DMT1 protein expression was localized in differentiated enterocytes at the villi tips in controls, whereas with iron deficiency it was observed throughout the villi. 15054143 2004
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE DMT1 expression was significantly increased in HH patients who had undergone phlebotomy therapy (treated) and in patients with ID compared with controls. 15247188 2004
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE Hfe(-/-) mice do not necessarily display features of iron deficiency in the duodenum, indicated by an increase in mRNA and protein levels of DMT1 and Ireg1. 14618243 2004
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 GeneticVariation disease BEFREE DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a "paradoxical" duodenal iron deficiency in hereditary hemochromatosis. 12547214 2003
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE HFE deficiency in intestinal crypt cells is thought to cause intestinal iron deficiency and greater expression of iron transporters such as SLC11A2 (also called DMT1, DCT1 and NRAMP2) and SLC11A3 (also called IREG1, ferroportin and MTP1; ref.3). 12704390 2003
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE In iron deficiency a coordinated upregulation of the iron transporters divalent-metal-transporter-1 and ferroportin and of duodenal-cytochrome b and hephaestin was found, whereas in patients with HFE and non-HFE-associated hemochromatosis duodenal-cytochrome b and hephaestin protein and mRNA expression were not significantly different from control subjects. 12949720 2003
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 Biomarker disease BEFREE These findings are consistent with DMT1 (IRE) and Ireg1 playing primary roles in the adaptive response to iron deficiency. 12801950 2003
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 Biomarker disease BEFREE DMT1 and FP1 are centrally involved in iron uptake/transfer in the duodenum and in the adaptive changes of iron homeostasis to iron deficiency and overload. 11313311 2001
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.100 AlteredExpression disease BEFREE Nramp2 is an intestinal iron transporter, upregulated by dietary iron deficiency, which also colocalizes with transferrin in recycling endosomes. 11042033 2000