TFRC
Chr 3ARtransferrin receptor
Also known as: CD71, IMD46, T9, TFR, TFR1, TR, TRFR, p90
This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
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
This gene — mechanism propensity
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
0 submitted variants 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
Egg Intervention During Pregnancy in Indonesia
ACTIVE NOT RECRUITINGFollow-up Study on Chronic Myeloid Leukemia Patients Achieving Treatment-free Remission
RECRUITINGA Study Evaluating Gene Therapy With BB305 Lentiviral Vector in Sickle Cell Disease
ACTIVE NOT RECRUITINGAsciminib as Initial Therapy for Patients With Chronic Myeloid Leukemia in Chronic Phase
RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGEffect of Intravenous Iron on Quality of Life in Older Patients With Acute Coronary Syndrome
RECRUITINGMicronutrient Dose Response Study in Bangladesh
ACTIVE NOT RECRUITINGMulticenter, Interdisciplinary National VEXAS Registry With Accompanying Biomaterial Collection
RECRUITINGGene-Modified Stem Cell Therapy for Subjects With Transfusion-dependent Beta-thalassemia
NOT YET 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 RECRUITINGHeme and Non-heme Iron Intakes, Gut Microbiota, and Influence on Host Iron Absorption
RECRUITINGEfficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools