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Details for receptor: transferrin receptor 2

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EndoNet ID: ENR01005

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Synonyms

  • transferrin receptor 2
  • TFR2
  • Transferrin receptor protein 2

General information

  • Defects in TFR2 are a cause of hereditary hemochromatosis type 3 (HFE3). HFE3 is a disorder of iron hemostasis resulting in iron overload. [1]
  • Duodenal expression of HFE and TfR2 (but not TfR1) in wild-type mice and humans was restricted to crypt cells, in which they co-localized. [2]
  • Expression of HFE and TfR2 proteins in human platelets may indicate that the mutations in the corresponding genes could influence platelet count, size and/or activation. [3]
  • Heme iron is recycled on ingestion of senescent erythrocytes by reticuloendothelial (RE) macrophages. Macrophages also express surface TfRs and take up iron from the circulation directly. [4]

Links to other resources

UniProt Q9UP52
Ensembl ENST00000431692

Subunit information

Alpha

Sequence 
MERLWGLFQ RAQQLSPRS SQTVYQRVE 
GPRKGHLEE EEEDGEEGA ETLAHFCPM 
ELRGPEPLG SRPRQPNLI PWAAAGRRA 
APYLVLTAL LIFTGAFLL GYVAFRGSC 
QACGDSVLV VSEDVNYEP DLDFHQGRL 
YWSDLQAMF LQFLGEGRL EDTIRQTSL 
RERVAGSAG MAALTQDIR AALSRQKLD 
HVWTDTHYV GLQFPDPAH PNTLHWVDE 
AGKVGEQLP LEDPDVYCP YSAIGNVTG 
ELVYAHYGR PEDLQDLRA RGVDPVGRL 
LLVRVGVIS FAQKVTNAQ DFGAQGVLI 
YPEPADFSQ DPPKPSLSS QQAVYGHVH 
LGTGDPYTP GFPSFNQTQ FPPVASSGL 
PSIPAQPIS ADIASRLLR KLKGPVAPQ 
EWQGSLLGS PYHLGPGPR LRLVVNNHR 
TSTPINNIF GCIEGRSEP DHYVVIGAQ 
RDAWGPGAA KSAVGTAIL LELVRTFSS 
MVSNGFRPR RSLLFISWD GGDFGSVGS 
TEWLEGYLS VLHLKAVVY VSLDNAVLG 
DDKFHAKTS PLLTSLIES VLKQVDSPN 
HSGQTLYEQ VVFTNPSWD AEVIRPLPM 
DSSAYSFTA FVGVPAVEF SFMEDDQAY 
PFLHTKEDT YENLHKVLQ GRLPAVAQA 
VAQLAGQLL IRLSHDRLL PLDFGRYGD 
VVLRHIGNL NEFSGDLKA RGLTLQWVY 
SARGDYIRA AEKLRQEIY SSEERDERL 
TRMYNVRIM RVEFYFLSQ YVSPADSPF 
RHIFMGRGD HTLGALLDH LRLLRSNSS 
GTPGATSST GFQESRFRR QLALLTWTL 
QGAANALSG DVWNIDNNF
UniProt Q9UP52-1

Binding hormones

  • Serotransferrin
    (trough: serum
    )
    • location: probably cytoplasm, but this information is not based on experimental findings

Anatomical structures with this receptor

  • hepatocyte

    Influences

    • positive hepcidin

  • duodenum

    Induced phenotypes

    • regulation of iron ion transmembrane transport
      • TfR2 is a key regulatory molecule that interacts functionally with Hemochromatosis Gene Product in a specialized pathway controlling iron absorption in mammals. The localization and molecular interactions of endogenous Hemochromatosis Gene Product and TfR2 proteins was examined in human and murine intestinal tissue and cells. [2]

  • platelet

    Induced phenotypes

    • regulation of iron ion transmembrane transport
      • TfR2 binds diferric transferrin (Tf) and can mediate the uptake of Tf-bound iron into cells. TfR2 serves as a receptor for Tf-bound iron in human platelets. [5]
      • Hemochromatosis protein can influence cellular iron levels. The body iron status can alter platelet count, size and activation. [6]
      • Platelets contain hemochromatosis protein, and also TfR2 was detectable in platelets. [3]
Reference