TFRC
Chr 3transferrin 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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
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
Follow-up Study on Chronic Myeloid Leukemia Patients Achieving Treatment-free Remission
RECRUITINGATR 1072 in Participants With PRKAG2 Syndrome
NOT YET RECRUITINGEffect of Intravenous Iron on Quality of Life in Older Patients With Acute Coronary Syndrome
RECRUITINGThe Effect of Cardiac Rehabilitation on Ferroptosis in Patients With Coronary Artery Disease
RECRUITINGEfficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia
ACTIVE NOT RECRUITINGHeme and Non-heme Iron Intakes, Gut Microbiota, and Influence on Host Iron Absorption
RECRUITINGMicronutrient Dose Response Study in Bangladesh
ACTIVE NOT RECRUITINGGene-Modified Stem Cell Therapy for Subjects With Transfusion-dependent Beta-thalassemia
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
ACTIVE NOT RECRUITINGMulticenter, Interdisciplinary National VEXAS Registry With Accompanying Biomaterial Collection
RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGExternal Resources
Links to major genomics databases and tools