TFR2

This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq]

transferrin receptor 2

Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Biological Process acute-phase responseSource:Ensembl
Biological Process cellular iron ion homeostasisSource:UniProtKB1 Publication
Biological Process cellular response to iron ionSource:BHF-UCL1 Publication
Biological Process endocytic iron import into cellSource:BHF-UCL2 Publications
Biological Process iron ion homeostasisSource:BHF-UCL1 Publication
Biological Process iron ion transportSource:UniProtKB1 Publication
Biological Process positive regulation of endocytosisSource:BHF-UCL1 Publication
Biological Process positive regulation of peptide hormone secretionSource:BHF-UCL1 Publication
Biological Process positive regulation of protein maturationSource:BHF-UCL1 Publication
Biological Process positive regulation of transcription by RNA polymerase IISource:BHF-UCL1 Publication
Biological Process receptor-mediated endocytosisSource:BHF-UCL1 Publication
Biological Process response to iron ionSource:BHF-UCL1 Publication
Biological Process transferrin transportSource:BHF-UCL1 Publication

Cell membrane
Isoform Beta
Cytoplasm
Lacks the transmembrane domain. Probably intracellular.

Hemochromatosis 3 (HFE3):
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Cytoplasmic: 1-83
Helical: 84-104
Extracellular: 105-801