TFR2
Function
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M28 family. M28B subfamily.
Tissue Specificity
Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
Cellular localization
- Cell membrane
- Single-pass type II membrane protein
- Isoform Beta
- Cytoplasm
- Lacks the transmembrane domain. Probably intracellular.
Alternative names
Transferrin receptor protein 2, TfR2, TFR2