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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TFR2
transferrin receptor 2
Chromosome 7 Β· 7q22.1
NCBI Gene: 7036Ensembl: ENSG00000106327.14HGNC: HGNC:11762UniProt: Q9UP52
123PubMed Papers
21Diseases
2Drugs
176Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecytoplasmic vesicleHFE-transferrin receptor complextransferrin receptor activityhemochromatosis type 3hereditary hemochromatosismucopolysaccharidosis type 2hereditary hemochromatosis type 1
✦AI Summary

TFR2 (transferrin receptor 2) is a cell surface receptor that mediates the uptake of transferrin-bound iron into cells, functioning as a component of the body's iron-sensing machinery 1. Expressed predominantly in hepatocytes and erythroid precursors, TFR2 forms a complex with the hemochromatosis protein HFE and facilitates iron sensing in liver cells 1. In erythroid cells, TFR2 associates with the erythropoietin receptor to regulate erythropoiesis and additionally facilitates iron transport from lysosomes to mitochondria in erythroblasts 1. TFR2 plays a critical role in regulating hepcidin expression; defects in TFR2 impair this iron-sensing function, leading to inappropriately low hepcidin production and subsequent systemic iron overload 1. Mutations in TFR2 cause hemochromatosis type 3, a rare non-HFE form characterized by excessive iron accumulation in hepatocytes, pancreatic cells, and cardiomyocytes 2. TFR2 mutations can present with intermediate to severe phenotypes overlapping juvenile hemochromatosis, requiring aggressive clinical intervention 3. Beyond iron metabolism, TFR2 regulates ferroptosis in glioma cells, with TFR2 overexpression promoting reactive oxygen species production and enhancing temozolomide chemosensitivity 4.

Sources cited
1
TFR2 is predominantly expressed in hepatocytes and erythroid precursors, forms a complex with HFE, facilitates iron sensing, regulates erythropoiesis, and enables iron transport from lysosomes to mitochondria
PMID: 29969719
2
TFR2 mutations cause rare non-HFE hemochromatosis by reducing hepcidin concentration, leading to iron overload
PMID: 29620054
3
TFR2 mutations cause hemochromatosis type 3 with intermediate severity phenotype that can overlap juvenile hemochromatosis spectrum
PMID: 33861982
4
TFR2 regulates ferroptosis in glioma cells and enhances temozolomide chemosensitivity through ROS and lipid peroxidation
PMID: 36702193
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hemochromatosis type 3Open Targets
0.82Strong
hereditary hemochromatosisOpen Targets
0.65Moderate
mucopolysaccharidosis type 2Open Targets
0.49Moderate
hereditary hemochromatosis type 1Open Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
FTH1-related iron overloadOpen Targets
0.09Suggestive
hemochromatosis type 5Open Targets
0.09Suggestive
isolated hyperferritinemiaOpen Targets
0.09Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.09Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.08Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
arthritisOpen Targets
0.07Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.07Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.07Suggestive
Hemochromatosis 3UniProt
Pathogenic Variants176
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis|TFR2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 672
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)Likely pathogenic
Hemochromatosis type 3|not provided|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2026β†’ Residue 792
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2026
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 288
NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 699
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 781
NM_003227.4(TFR2):c.1398del (p.Arg468fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 468
NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 698
NM_003227.4(TFR2):c.1046C>G (p.Ser349Ter)Likely pathogenic
Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 349
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)Pathogenic
Hemochromatosis type 1|Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 701
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2025β†’ Residue 396
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 221
NM_003227.4(TFR2):c.286+1G>TLikely pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2025β†’ Residue 489
NM_003227.4(TFR2):c.124del (p.Glu42fs)Pathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_003227.4(TFR2):c.1606-2A>GPathogenic
Hereditary hemochromatosis|Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025
NM_003227.4(TFR2):c.515T>A (p.Met172Lys)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2025β†’ Residue 172
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)Pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2025β†’ Residue 105
NM_003227.4(TFR2):c.1606-8A>GLikely pathogenic
Hemochromatosis type 3
β˜…β˜…β˜†β˜†2025
NM_003227.4(TFR2):c.34-2A>GLikely pathogenic
Hemochromatosis type 3|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Drug Targets2
E2.3Phase I
Transferrin receptor inhibitor
PABINAFUSP ALFAApproved
Transferrin receptor binding agent
mucopolysaccharidosis type 2
Related Genes
EPORProtein interaction95%B2MProtein interaction91%TMPRSS6Protein interaction89%BMP6Protein interaction89%BMPR1AProtein interaction89%IREB2Protein interaction78%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
10%
Brain
0%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
TFR2EPORB2MTMPRSS6BMP6BMPR1AIREB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UP52
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.60–0.91]
RankingsWhere TFR2 stands among ~20K protein-coding genes
  • #3,840of 20,598
    Most Researched123 Β· top quartile
  • #926of 1,025
    FDA-Approved Drug Targets1
  • #412of 5,498
    Most Pathogenic Variants176 Β· top 10%
  • #8,238of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedTFR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Haemochromatosis.
PMID: 29620054
Nat Rev Dis Primers Β· 2018
1.00
2
Transferrin and transferrin receptors update.
PMID: 29969719
Free Radic Biol Med Β· 2019
0.90
3
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
PMID: 20542038
Gastroenterology Β· 2010
0.80
4
Physiology of Iron Metabolism.
PMID: 40066539
Clin Lab Β· 2025
0.70
5
Transferrin receptors.
PMID: 40263550
Exp Mol Med Β· 2025
0.60