SLC11A2

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]

Full Name

Solute Carrier Family 11 Member 2

Function

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.

Biological Process

Biological Process activation of cysteine-type endopeptidase activity involved in apoptotic processIDA:UniProtKB
Biological Process cadmium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular iron ion homeostasisTAS:Reactome
Biological Process cellular response to oxidative stressIDA:UniProtKB
Biological Process cobalt ion transportIDA:UniProtKB
Biological Process copper ion transportManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process dendrite morphogenesisIEA:Ensembl
Biological Process detection of oxygenIEP:UniProtKB
Biological Process erythrocyte developmentIEA:Ensembl
Biological Process heme biosynthetic processIEA:Ensembl
Biological Process iron import into cellManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process iron ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process iron ion transportManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process lead ion transportManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process learning or memoryIEA:Ensembl
Biological Process manganese ion transportManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process multicellular organismal iron ion homeostasisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process nickel cation transportIDA:UniProtKB
Biological Process response to hypoxiaManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process response to iron ionManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process vanadium ion transportIDA:UniProtKB

Cellular Location

Isoform 2
Cell membrane
Early endosome
Endosome membrane
Mitochondrion outer membrane
Cell membrane
Also found in extracellular vesicles different from exosomes.

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.

Topology

Cytoplasmic: 1-69
Helical: 70-90
Extracellular: 91-96
Helical: 97-117
Cytoplasmic: 118-154
Helical: 155-175
Extracellular: 176-179
Helical: 180-200
Cytoplasmic: 201-208
Helical: 209-229
Extracellular: 230-255
Helical: 256-276
Cytoplasmic: 277-301
Helical: 302-322
Extracellular: 323-360
Helical: 361-381
Cytoplasmic: 382-408
Helical: 409-429
Extracellular: 430-440
Helical: 441-461
Cytoplasmic: 462-482
Helical: 483-503
Extracellular: 504-506
Helical: 507-527
Cytoplasmic: 528-568

PTM

Ubiquitinated by WWP2.
N-glycosylated.