Overview

Location [1]
3q29
Protein [2]
Transferrin receptor protein 1, serum form
Synonyms [1]
TRFR, IMD46, CD71, p90, TFR, T9, TR, TFR1

Transferrin receptor (TFRC) is a gene that encodes a protein that functions in the development of erythrocytes and the nervous system. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

TFRC is altered in 0.39% of all cancers with cholangiocarcinoma, endometrial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

TFRC GENIE Cases - Top Diseases

The most common alterations in TFRC are TFRC R121H (0.52%), TFRC D624G (0.26%), and TFRC T504M (0.26%) [3].

TFRC GENIE Cases - Top Alterations

Significance of TFRC in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Mixed Phenotype Acute Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.