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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TFRC
transferrin receptor
Chromosome 3 · 3q29
NCBI Gene: 7037Ensembl: ENSG00000072274.14HGNC: HGNC:11763UniProt: A0A8V8TM46
589PubMed Papers
21Diseases
3Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell growthregulation of cell population proliferationcellular response to xenobiotic stimulusRNA bindingTFRC-related combined immunodeficiencytype 2 diabetes mellitusmucopolysaccharidosis type 2diabetes mellitus
✦AI Summary

TFRC (transferrin receptor) is a cell surface protein primarily responsible for iron ion transport across cellular membranes 1. As a transferrin receptor expressed on the blood-brain barrier and other tissues, TFRC mediates iron uptake by binding transferrin-iron complexes and facilitating their internalization via clathrin-coated pits into endosomal compartments 2. Beyond iron homeostasis, TFRC plays a critical role in ferroptosis—a form of iron-dependent cell death characterized by lipid peroxidation. TFRC upregulation promotes ferroptosis in multiple pathological contexts, including viral infection (CVB3), hepatic ischemia-reperfusion injury, pulmonary fibrosis, psoriasis, temporomandibular joint osteoarthritis, and thrombogenesis 314567. In cancer, YAP-mediated TFRC upregulation enhances ferroptosis sensitivity in mesenchymal cells 8. Clinically, TFRC represents a dual-function target: its cell surface expression enables CNS gene delivery via engineered AAV vectors for treating genetic diseases like Gaucher disease 2, while ferroptosis inhibition through TFRC suppression shows therapeutic potential in inflammatory and degenerative diseases. TFRC dysregulation is associated with Immunodeficiency 46, highlighting its importance in immune function.

Sources cited
1
TFRC is expressed on the blood-brain barrier and can be engineered as a target for AAV-mediated CNS gene delivery
PMID: 38753766
2
TFRC upregulation contributes to ferroptosis in hepatic ischemia-reperfusion injury in older livers
PMID: 38834654
3
YAP signaling upregulates TFRC to promote ferroptosis in cancer cells
PMID: 31341276
4
TGF-β upregulates TFRC expression in lung fibroblasts, promoting iron accumulation and ferroptosis in pulmonary fibrosis
PMID: 36302319
5
TFRC is highly expressed in psoriatic lesions and contributes to ferroptosis-mediated inflammation
PMID: 34707088
6
HIF-1α upregulates TFRC in response to IL-1β, promoting chondrocyte ferroptosis in temporomandibular joint osteoarthritis
PMID: 38766865
7
TFRC upregulation promotes ferroptosis during CVB3 infection via Sp1-mediated transcription
PMID: 35821227
8
Endothelial TFRC promotes ferroptosis and thrombogenesis through iron accumulation and lipid peroxidation
PMID: 38241836
Disease Associationsⓘ21
TFRC-related combined immunodeficiencyOpen Targets
0.62Moderate
type 2 diabetes mellitusOpen Targets
0.53Moderate
mucopolysaccharidosis type 2Open Targets
0.49Moderate
diabetes mellitusOpen Targets
0.47Moderate
diabetic retinopathyOpen Targets
0.34Weak
combined immunodeficiencyOpen Targets
0.34Weak
Combined T and B cell immunodeficiencyOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.23Weak
non-small cell lung carcinomaOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.21Weak
oral squamous cell carcinomaOpen Targets
0.21Weak
acute myeloid leukemiaOpen Targets
0.21Weak
gastrointestinal stromal tumorOpen Targets
0.21Weak
gliomaOpen Targets
0.21Weak
chronic lymphocytic leukemiaOpen Targets
0.21Weak
osteosarcomaOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.21Weak
urinary bladder carcinomaOpen Targets
0.20Weak
multiple myelomaOpen Targets
0.20Weak
Immunodeficiency 46UniProt
Pathogenic Variants1
NM_001128148.3(TFRC):c.1198+1G>TPathogenic
TFRC-related combined immunodeficiency
★☆☆☆2018
View on ClinVar ↗
Drug Targets3
A27.15Phase I
Transferrin receptor protein 1 antagonist
E2.3Phase I
Transferrin receptor inhibitor
PABINAFUSP ALFAApproved
Transferrin receptor binding agent
mucopolysaccharidosis type 2
Related Genes
LCKProtein interaction100%BMPR1AProtein interaction99%OPTNProtein interaction99%ACO1Protein interaction96%FTH1Protein interaction96%FTLProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Ovary
20%
Brain
13%
Heart
12%
Liver
10%
Gene Interaction Network
Click a node to explore
TFRCLCKBMPR1AOPTNACO1FTH1FTL
PROTEIN STRUCTURE
Preparing viewer…
PDB6OKD · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.36 [0.26–0.49]
RankingsWhere TFRC stands among ~20K protein-coding genes
  • #405of 20,598
    Most Researched589 · top 5%
  • #738of 1,025
    FDA-Approved Drug Targets1
  • #4,613of 5,498
    Most Pathogenic Variants1
  • #2,875of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedTFRC
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
An AAV capsid reprogrammed to bind human transferrin receptor mediates brain-wide gene delivery.
PMID: 38753766
Science · 2024
1.00
2
FTO deficiency in older livers exacerbates ferroptosis during ischaemia/reperfusion injury by upregulating ACSL4 and TFRC.
PMID: 38834654
Nat Commun · 2024
0.90
3
Lactylation of LSD1 is an acquired epigenetic vulnerability of BRAFi/MEKi-resistant melanoma.
PMID: 40132584
Dev Cell · 2025
0.86
4
A covalent peptide-based lysosome-targeting protein degradation platform for cancer immunotherapy.
PMID: 39910101
Nat Commun · 2025
0.82
5
Knockdown of ANXA10 induces ferroptosis by inhibiting autophagy-mediated TFRC degradation in colorectal cancer.
PMID: 37666806
Cell Death Dis · 2023
0.80