Entity Details

Primary name SLC11A2
Entity type gene
Source Source Link

Details

PrimaryID4891
RefseqGeneNG_021139
SymbolSLC11A2
Namesolute carrier family 11 member 2
Chromosome12
Location12q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-07-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNRAM2_HUMAN

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0003032 detection of oxygen
GO:0005375 copper ion transmembrane transporter activity
GO:0005381 iron ion transmembrane transporter activity
GO:0005384 manganese ion transmembrane transporter activity
GO:0005385 zinc ion transmembrane transporter activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005773 vacuole
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006783 heme biosynthetic process
GO:0006824 cobalt ion transport
GO:0006825 copper ion transport
GO:0006826 iron ion transport
GO:0006828 manganese ion transport
GO:0006879 cellular iron ion homeostasis
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007611 learning or memory
GO:0009986 cell surface
GO:0010039 response to iron ion
GO:0015086 cadmium ion transmembrane transporter activity
GO:0015087 cobalt ion transmembrane transporter activity
GO:0015093 ferrous iron transmembrane transporter activity
GO:0015094 lead ion transmembrane transporter activity
GO:0015099 nickel cation transmembrane transporter activity
GO:0015100 vanadium ion transmembrane transporter activity
GO:0015295 solute:proton symporter activity
GO:0015675 nickel cation transport
GO:0015676 vanadium ion transport
GO:0015692 lead ion transport
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0022890 inorganic cation transmembrane transporter activity
GO:0031410 cytoplasmic vesicle
GO:0031526 brush border membrane
GO:0031902 late endosome membrane
GO:0033212 iron import into cell
GO:0034599 cellular response to oxidative stress
GO:0034755 iron ion transmembrane transport
GO:0045177 apical part of cell
GO:0045178 basal part of cell
GO:0046870 cadmium ion binding
GO:0046915 transition metal ion transmembrane transporter activity
GO:0048471 perinuclear region of cytoplasm
GO:0048813 dendrite morphogenesis
GO:0048821 erythrocyte development
GO:0055037 recycling endosome
GO:0060586 multicellular organismal iron ion homeostasis
GO:0070574 cadmium ion transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0070826 paraferritin complex
GO:0071577 zinc ion transmembrane transport
GO:0098656 anion transmembrane transport
GO:1903561 extracellular vesicle
GO:1905394 retromer complex binding

Diseases

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Disease IDSourceNameDescription
206100 OMIMAnemia, hypochromic microcytic, with iron overload 1 (AHMIO1)A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis. The disease is caused by variants affecting the gene represented in this entry.