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MGP002129

UniProt Annotations

Entry Information
Gene Namesolute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
Protein EntryNRAM2_HUMAN
UniProt IDP49281
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=2; Synonyms=Non-IRE; IsoId=P49281-1; Sequence=Displayed; Name=1; Synonyms=IRE; IsoId=P49281-2; Sequence=VSP_003595; Name=3; Synonyms=1A-IRE; IsoId=P49281-3; Sequence=VSP_038144, VSP_003595; Name=4; Synonyms=1A-Non-IRE; IsoId=P49281-4; Sequence=VSP_038144; Note=No experimental confirmation available.; Name=5; IsoId=P49281-5; Sequence=VSP_046058, VSP_003595; Note=No experimental confirmation available. Ref.6 (BAG59096/BAH14878) sequences are in conflict in position: 6:Y->S. {ECO:0000305};
Biophysicochemical PropertiespH dependence: Optimum pH is 5.5-6.5 for Fe(2+) uptake. {ECO:0000269|PubMed:17293870};
DiseaseAnemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]: 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. {ECO:0000269|PubMed:15459009, ECO:0000269|PubMed:16160008, ECO:0000269|PubMed:16439678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionImportant 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. {ECO:0000269|PubMed:17109629, ECO:0000269|PubMed:24448823}.
MiscellaneousNRAMP2-mediated iron uptake is markedly stimulated by nifedipine in a concentration-dependent manner.
PtmUbiquitinated by WWP2. {ECO:0000250}.
Sequence CautionSequence=AAH02592.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA34374.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the NRAMP family. {ECO:0000305}.
Subcellular LocationEndosome membrane {ECO:0000269|PubMed:18776082}; Multi-pass membrane protein {ECO:0000269|PubMed:18776082}. Mitochondrion outer membrane {ECO:0000269|PubMed:24448823}; Multi-pass membrane protein.
SubunitForms a complex with NDFIP1 and NEDD4L, in cortical neurons, in response to iron and colbalt exposure; this interaction leads to ubiquitination by NEDD4L and proteasome- dependent degradation. Interacts with NDFIP2. Interacts with COX2 and TOM6 at the outer mitochondrion membrane. {ECO:0000269|PubMed:18776082, ECO:0000269|PubMed:19706893, ECO:0000269|PubMed:24448823}.
Tissue SpecificityUbiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney. {ECO:0000269|PubMed:12209011, ECO:0000269|PubMed:9642100}.
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