Sequence in raw or FASTA format:
TFR2 transferrin receptor 2 [Homo sapiens (human)]
|Entrez Gene ID||7036|
|Full Name||transferrin receptor 2|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||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].|
Hemochromatosis, type 3, 604250 (3)
|WP2007||Iron metabolism in placenta|
|Homo sapiens (human)||TFR2||NP_003218.2|
|Pan troglodytes (chimpanzee)||TFR2||XP_003318698.1|
|Macaca mulatta (Rhesus monkey)||TFR2||XP_001113151.1|
|Canis lupus familiaris (dog)||TFR2||XP_005621095.1|
|Bos taurus (cattle)||TFR2||NP_001171212.1|
|Mus musculus (house mouse)||Tfr2||NP_056614.3|
|Rattus norvegicus (Norway rat)||Tfr2||NP_001099386.1|
|Danio rerio (zebrafish)||tfr2||NP_001009916.1|
|GO:0006826||iron ion transport||NAS|
|GO:0006879||cellular iron ion homeostasis||TAS|
|GO:0005887||integral component of plasma membrane||NAS|
|GO:0004998||transferrin receptor activity||NAS|
What is the normal function of the TFR2 gene?
The TFR2 gene provides instructions for making a protein called transferrin receptor 2. Studies suggest that this receptor helps iron enter liver cells (hepatocytes). In the blood, iron binds to a protein called transferrin for transport and delivery to the liver and other tissues. On the cell surface, transferrin binds to transferrin receptor 2, and iron is allowed to enter the cell. Additionally, this receptor helps sense and regulate iron storage levels in the body by controlling the levels of another protein called hepcidin. Hepcidin is a protein that determines how much iron is absorbed from the diet and released from storage sites in the body in response to iron levels.
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