Entrez gene ID | | 7036 |
Official gene symbol | | TFR2 |
Full name | | transferrin receptor 2 |
Aliases | | ,HFE3,MGC126368,TFRC2, |
Gene summary | | 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] |
Location | | Chromosome: 7 Locus: 7q22 |
Gene position | | 100239173 - 100218039 Map Viewer |
Gene orientation | | minus |
Gene size | | 21135 bp |
Gene sequence |
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OMIM ID | | 604720 |
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