SLC11A2
Function
Proton-coupled metal ion symporter operating with a proton to metal ion stoichiometry of 1:1 (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Selectively transports various divalent metal cations, in decreasing affinity: Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+), VO(2+) (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Essential for maintenance of iron homeostasis by modulating intestinal absorption of dietary Fe(2+) and TF-associated endosomal Fe(2+) transport in erythroid precursors and other cells (By similarity). Enables Fe(2+) and Mn(2+) ion entry into mitochondria, and is thus expected to promote mitochondrial heme synthesis, iron-sulfur cluster biogenesis and antioxidant defense (By similarity) (PubMed:24448823). Can mediate uncoupled fluxes of either protons or metal ions.
Involvement in disease
Anemia, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by WWP2.
N-glycosylated.
Sequence Similarities
Belongs to the NRAMP family.
Tissue Specificity
Ubiquitously expressed. Expressed in erythroid progenitors.
Cellular localization
- Isoform 1
- Early endosome membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
- Predominantly localizes in early endosomes that underlie the apical membrane of polarized epithelia.
- Isoform 2
- Late endosome membrane
- Multi-pass membrane protein
- Lysosome membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
- Extracellular vesicle membrane
- Multi-pass membrane protein
- Isoform 3
- Cell membrane
- Mitochondrion outer membrane
- Multi-pass membrane protein
- Golgi apparatus
- trans-Golgi network membrane
- Multi-pass membrane protein
- Recycling endosome membrane
- Multi-pass membrane protein
Alternative names
DCT1, DMT1, NRAMP2, OK/SW-cl.20, SLC11A2, Natural resistance-associated macrophage protein 2, NRAMP 2, Divalent cation transporter 1, Divalent metal transporter 1, Solute carrier family 11 member 2, DMT-1