Aliases for TFR2 Gene
External Ids for TFR2 Gene
Previous GeneCards Identifiers for TFR2 Gene
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
GeneCards Summary for TFR2 Gene
TFR2 (Transferrin Receptor 2) is a Protein Coding gene. Diseases associated with TFR2 include hemochromatosis, type 3 and tfr2-related hereditary hemochromatosis. Among its related pathways are AMPK Enzyme Complex Pathway and Iron metabolism in placenta. GO annotations related to this gene include peptidase activity and transferrin receptor activity. An important paralog of this gene is FOLH1.
UniProtKB/Swiss-Prot for TFR2 Gene
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation