TFR2
Identifiers
Aliases	TFR2, HFE3, TFRC2, transferrin receptor 2
External IDs	OMIM: 604720 MGI: 1354956 HomoloGene: 2428 GeneCards: TFR2
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q22.1 Start 100,620,416 bp[1] End 100,642,779 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 137,568,102 bp[2] End 137,585,743 bp[2]
RNA expression pattern Bgee Top expressed in Right lobe of liver vena cava cancellous bone nipple pylorus pericardium superior surface of tongue sperm saphenous vein bone marrow More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferrin receptor activity co-receptor binding GO:0001948 protein binding Cellular component cytoplasm integral component of membrane integral component of plasma membrane membrane GO:0016023 cytoplasmic vesicle HFE-transferrin receptor complex external side of plasma membrane plasma membrane Biological process positive regulation of endocytosis receptor-mediated endocytosis iron ion transport positive regulation of peptide hormone secretion cellular response to iron ion response to iron ion positive regulation of transcription by RNA polymerase II cellular iron ion homeostasis positive regulation of protein maturation iron ion homeostasis acute-phase response transferrin transport endocytic iron import into cell Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7036	50765
Ensembl	ENSG00000106327	ENSMUSG00000029716
UniProt	Q9UP52	Q9JKX3
RefSeq (mRNA)	NM_001206855 NM_003227	NM_001289507 NM_001289509 NM_001289511 NM_015799 NM_001359206
RefSeq (protein)	NP_001193784 NP_003218	NP_001276436 NP_001276438 NP_001276440 NP_056614 NP_001346135
Location (UCSC)	Chr 7: 100.62 – 100.64 Mb	Chr 5: 137.57 – 137.59 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2 gene.^[5][6] This protein is involved in the uptake of transferrin-bound iron into cells by endocytosis, although its role is minor compared to transferrin receptor 1.

Function

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.^[7]