Overview

Location [1]
Xp11.23
Synonyms [1]
RCCX1, bHLHe33, TFEA, RCCP2

Transcription factor binding to IGHM enhancer 3 (TFE3) is a gene that encodes a protein that promotes the expression of genes downstream of transforming growth factor beta signaling. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as adrenal cancer, intestinal cancer, and skin cancer.

Significance of TFE3 in Diseases

Renal Cell Carcinoma +

Chromophobe Renal Cell Carcinoma +

Malignant Solid Tumor +

Non-Clear Cell Renal Cell Carcinoma +

Papillary Renal Cell Carcinoma +

Translocation-Associated Renal Cell Carcinoma +

Unclassified Renal Cell Carcinoma +

Non-Hodgkin Lymphoma +

Sarcomatoid Renal Cell Carcinoma +

Soft Tissue Sarcoma +

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.