Aliases for SLC11A2 Gene
External Ids for SLC11A2 Gene
Previous HGNC Symbols for SLC11A2 Gene
Previous GeneCards Identifiers for SLC11A2 Gene
This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
GeneCards Summary for SLC11A2 Gene
SLC11A2 (Solute Carrier Family 11 Member 2) is a Protein Coding gene. Diseases associated with SLC11A2 include Anemia, Hypochromic Microcytic, With Iron Overload 1 and Hypochromic Microcytic Anemia With Iron Overload. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and copper ion binding. An important paralog of this gene is SLC11A1.
UniProtKB/Swiss-Prot Summary for SLC11A2 Gene
Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria.