TFRC
Chr 3ARtransferrin receptor
Also known as: CD71, IMD46, T9, TFR, TFR1, TR, TRFR, p90
The transferrin receptor mediates cellular iron uptake through receptor-mediated endocytosis and is essential for erythropoiesis and neurologic development. Mutations cause immunodeficiency 46, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.581), reflecting its critical role in iron homeostasis and immune cell proliferation.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 13 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 5 | 238 | 24 | 5 | 272 |
Likely Benign | 0 | 1 | 81 | 73 | 155 |
Benign | 0 | 0 | 36 | 1 | 37 |
Conflicting | — | 5 | |||
| Total | 5 | 239 | 154 | 79 | 482 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TFRC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Follow-up Study on Chronic Myeloid Leukemia Patients Achieving Treatment-free Remission
RECRUITINGEfficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia
ACTIVE NOT RECRUITINGMulticenter, Interdisciplinary National VEXAS Registry With Accompanying Biomaterial Collection
RECRUITINGA Study to Investigate Tolerability and Efficacy of Asciminib (Oral) Versus Nilotinib (Oral) in Adult Participants (≥18 Years of Age) With Newly Diagnosed Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase (Ph+ CML-CP)
ACTIVE NOT RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGAsciminib as Initial Therapy for Patients With Chronic Myeloid Leukemia in Chronic Phase
RECRUITINGA Study Evaluating Gene Therapy With BB305 Lentiviral Vector in Sickle Cell Disease
ACTIVE NOT RECRUITINGHeme and Non-heme Iron Intakes, Gut Microbiota, and Influence on Host Iron Absorption
RECRUITINGMicronutrient Dose Response Study in Bangladesh
ACTIVE NOT RECRUITINGEffect of Intravenous Iron on Quality of Life in Older Patients With Acute Coronary Syndrome
RECRUITINGEgg Intervention During Pregnancy in Indonesia
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools