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transferrin receptor protein 2; TfR2 (TFR2)
Function:
- mediates cellular uptake of transferrin-bound iron (non-iron dependent)
- may be involved in iron metabolism, hepatocyte function & erythrocyte differentiation
Structure:
- homodimer
- belongs to the peptidase M28 family, M28B subfamily
Compartment:
- cell membrane
- isoform beta: cytoplasm (probable) lacks the transmembrane domain
Alternative splicing: named isoforms=3, alpha, beta, gamma
Expression:
- predominantly expressed in liver
- alpha form is also expressed in spleen, lung, muscle, prostate & peripheral blood mononuclear cells
- beta form is weakly expressed in all tissues tested
Pathology:
- defects in TFR2 are a cause of hereditary hemochromatosis 3
- the variant Lys-172 found in hereditary hemochromatosis 3 affects the putative initiation codon of the beta isoform thus preventing its translation
Related
CD71; transferrin receptor 1; TfR1; TfR; TR; Trfr; T9; p90; sTfR (TFRC)
serotransferrin; transferrin; Siderophilin; beta-1 metal-binding globulin (TF)
General
cell surface receptor
glycoprotein
Properties
SIZE: entity length = 801 aa
MW = 89 kD
COMPARTMENT: cytoplasm
cellular membrane
MOTIF: Endocytosis signal {23-26}
transmembrane domain {84-104}
cysteine residue {C108}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C111}
MODIFICATION: cysteine residue {C-INTERCHAIN}
N-glycosylation site {N240}
N-glycosylation site {N339}
N-glycosylation site {N540}
N-glycosylation site {N754}
Database Correlations
OMIM correlations
MORBIDMAP 604720
UniProt Q9UP52
PFAM correlations
Kegg hsa:7036
References
- Camaschella C et ap
The gene TFR2 is mutated in a new type of haemochromatosis
mapping to 7q22.
Nat Genet. 2000 May;25(1):14-5.
PMID: 10802645
- UniProt :accession Q9UP52
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TFR2