NP_001193784.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
88,755 Da
NCBI Official Full Name
transferrin receptor protein 2 isoform 2
NCBI Official Synonym Full Names
transferrin receptor 2
NCBI Official Synonym Symbols
NCBI Protein Information
transferrin receptor protein 2
UniProt Protein Name
Transferrin receptor protein 2
UniProt Synonym Gene Names
UniProt Entry Name
TFR2_HUMAN
NCBI Summary for TFR2
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]
UniProt Comments for TFR2
TFR2: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3). HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects. Belongs to the peptidase M28 family. M28B subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Receptor, misc.; Membrane protein, integral
Chromosomal Location of Human Ortholog: 7q22
Cellular Component: integral to plasma membrane; cytoplasm
Molecular Function: transferrin receptor activity
Biological Process: receptor-mediated endocytosis; cellular iron ion homeostasis; iron ion transport
Disease: Hemochromatosis, Type 3
Research Articles on TFR2
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Products associated with TFR2 elisa kit
Pathways associated with TFR2 elisa kit
Diseases associated with TFR2 elisa kit
Organs/Tissues associated with TFR2 elisa kit
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