Skip to main content

Transferrin Receptor 2/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

Target type

Proteins

Primary research area

Oncology

Molecular weight

88755Da

We found 3 products in 1 category

Primary Antibodies