Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | TFE3 |
| Gene Name: | TFE3 |
| Protein Full Name: | Transcription factor E3 |
| Alias: | BHLHe33; TFEA; Transcription factor binding to IGHM enhancer 3; Transcription factor E family, member A |
| Mass (Da): | 61521 |
| Number AA: | 575 |
| UniProt ID: | P19532 |
| Locus ID: | 7030 |
| COSMIC ID: | TFE3 |
| Gene location on chromosome: | Xp11.22 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20357 |
| Percent of cancer specimens with mutations: | 0.22 |
| Deregulated in translocations: | t(X;1)(p11.2;q21.2): PRCC-TFE3 (renal cell carcinoma); t(X;1)(p11.2;p34): PSF-TFE3 (renal cell carcinoma and papillary renal cell carcinoma); der(X)t(X;17)(p11;q25): ASPSCR1 -TFE3 (Alveolar soft part sarcoma and balanced translocation in renal cell carc |
| Normal role description: | Forms homodimers or heterodimers with other MiT/TFE family members and binds E-box sequences (3'-CANNTG-5'), especially the MUE3 box in the immunoglobulin enhancer. Also binds to the USF/MLTF site. Plays a role in T cell dependent antibody response. Translocations associated with various human cancers. |