DNA/RNA
Description
8 exons
Transcription
differential splicing removing exon 3 (with dominant negative activity of the resulting protein)
Proteins
Description
743 amino acids; 80 kDa; N-term acidic transcriptional activation domain (domain 260-271, exon 3), helix-loop-helix (344 -400), leucine zipper (409-430), and a proline/arginine rich sequence (575-743) C-term
Expression
wide; in fetal and adult tissues
Localisation
nucleus
Function
transcription factor; member of the basic helix-loop-helix family (b-HLH) of transcription factors primarily found to bind to the immunoglobulin enchancer muE3 motif, Ig K enhancers and Ig H variable regions promotors; the helix-loop-helix - leucine zipper region is implicated in DNA binding and dimerization (homo and heterodimerizations); mice which lack TFE3 in their B and T lymphocytes reconstitute the B- and T-cell compartments, but IgM levels are reduced
Homology
to other members of the myc family of helix-loop-helix transcription factors
Implicated in
Entity name
Prognosis
overall 5-yr survival rate around 85%
Hybrid gene
5 PRCC- 3 TFE3; variable breakpoint in PRCC; breakpoint in the 1st intron of TFE3
Fusion protein
N-term PRCC with the proline rich sequence fused to most of TFE3, including the acidic transcriptional activation domain, the helix-loop-helix, and the leucine zipper; the reciprocal TFE3-PRCC is expressed; it is to be noted that the normal TFE3 transcript is lost in female patients
Oncogenesis
PRCCTFE3 appears to be the fusion product that is most critical for the development of papillary renal cell carcinomas; it is a three-fold better transactivator than wild-type TFE3 and shows the characteristics associated with malignant trannsformation
Entity name
Disease
t(X;1)(p11.2;p34) has only been found in a handfull cases of papillary renal cell carcinoma
Hybrid gene
5 PSF- 3 TFE3
Fusion protein
N-term PSF and most of it fused to the DNA binding domains of TFE3 (excluding the acidic transcriptional activation domain, including the C-term helix-loop-helix, and the leucine zipper); no TFE3-PSF reciprocal transcript, as the der(X) t(X;1) is missing; the normal TFE3 transcript is found
Entity name
Disease
only one case of papillary renal cell carcinoma
Hybrid gene
5 NONO- 3 TFE3
Fusion protein
N-term NONO and most of it except the C-term proline rich sequence fused to the DNA binding domains of TFE3 (excluding the acidic transcriptional activation domain, including the C-term helix-loop-helix, and the leucine zipper); the reciprocal transcript is found
Entity name
Alveolar soft part sarcoma with ASPSCR1 -TFE3 fusion
Cytogenetics
der(X)t(X;17)(p11;q25) is consistently involved; it implicates: 1- the formation of a hybrid gene at the breakpoint, and also, 2- gain in Xp11-pter sequences, and loss of heterozygocity in 11q25-qter, with possible implications
Hybrid gene
5 ASPSCR1-3 TFE3; the reciprocal 5 TFE3 - 3 ASPSCR1 is most often absent. ASPSCR1 is fused in frame to TFE3 exon 3 or 4
Fusion protein
NH2 term ASPSCR1, fused to the C term of TFE3
Oncogenesis
might combine the effect of a fusion protein to that of gene(s) dosage
Entity name
Disease
a subset of renal cell carcinoma, which presents with a combination of alveolar soft part sarcoma-like features and epithelial features is found to carry this anomaly
Cytogenetics
balanced t(X;17)(p11.2;q25), in contrast with what is found in the alveolar soft part sarcoma (see above)
Hybrid gene
5 ASPSCR1-3 TFE3
Fusion protein
NH2 term ASPSCR1, fused to the C term of TFE3
Entity name
other Xp11 involvements in renal cell carcinoma (t(X;10)(p11;q23), etc ...) are likely to implicate TFE3
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11438465 | 2001 | Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. | Argani P et al |
| 2044953 | 1991 | The leucine zipper of TFE3 dictates helix-loop-helix dimerization specificity. | Beckmann H et al |
| 9393982 | 1997 | Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. | Clark J et al |
| 11358836 | 2001 | Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. | Heimann P et al |
| 11244503 | 2001 | The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. | Ladanyi M et al |
| 9154832 | 1997 | The absence of the transcription activator TFE3 impairs activation of B cells in vivo. | Merrell K et al |
| 1840705 | 1991 | A dominant negative form of transcription activator mTFE3 created by differential splicing. | Roman C et al |
| 8872474 | 1996 | The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. | Sidhar SK et al |
| 11313885 | 2001 | Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes. | Weterman MA et al |
| 10644981 | 2000 | Nuclear localization and transactivating capacities of the papillary renal cell carcinoma-associated TFE3 and PRCC (fusion) proteins. | Weterman MJ et al |
Other Information
Locus ID:
NCBI: 7030
MIM: 314310
HGNC: 11752
Ensembl: ENSG00000068323
Variants:
dbSNP: 7030
ClinVar: 7030
TCGA: ENSG00000068323
COSMIC: TFE3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068323 | ENST00000315869 | P19532 |
| ENSG00000068323 | ENST00000315869 | A0A024QZ23 |
| ENSG00000068323 | ENST00000493583 | P19532 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transcriptional misregulation in cancer | KEGG | ko05202 |
| Transcriptional misregulation in cancer | KEGG | hsa05202 |
| Mitophagy - animal | KEGG | ko04137 |
| Mitophagy - animal | KEGG | hsa04137 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37936565 | 2024 | PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. | 2 |
| 38073015 | 2024 | Aberrant expression of TFE3 in granular cell tumor: Four cases in pediatrics. | 0 |
| 37936565 | 2024 | PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. | 2 |
| 38073015 | 2024 | Aberrant expression of TFE3 in granular cell tumor: Four cases in pediatrics. | 0 |
| 35912477 | 2023 | TFE3 Rearrangement and Expression in Renal Cell Carcinoma. | 2 |
| 36476598 | 2023 | Application of TFE3 Immunophenotypic and TFE3 mRNA Expressions in Diagnosis and Prognostication of Adrenal Cortical Neoplasms and Distinction From Kidney Tumors. | 0 |
| 36656224 | 2023 | A case of TFE3 translocation renal cell carcinoma with rare morphological features and literature review. | 0 |
| 36695651 | 2023 | A novel VCP::TFE3 gene fusion resulting from t(X;9)(p11.23;p13.3) chromosome translocation in TFE3 rearranged renal cancer cell carcinoma. | 0 |
| 36705569 | 2023 | PKM2 controls the translation of TFE3 to maintain the integrity of the Golgi apparatus for the survival of HeLa and ME-180 cervical cancer cells. | 0 |
| 36740682 | 2023 | p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney. | 1 |
| 36802993 | 2023 | Expression of TFE3 in Cellular and Myxoid Type of Neurothekeoma: Four Cases in Young Children and Adolescents. | 0 |
| 36987696 | 2023 | TFEB and TFE3 drive kidney cystogenesis and tumorigenesis. | 8 |
| 36997032 | 2023 | Cystic MED15::TFE3 translocation renal cell carcinoma: histologic mimicker of multilocular cystic renal neoplasm of low malignant potential with review of the literature. | 1 |
| 37188688 | 2023 | RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome. | 3 |
| 38619513 | 2023 | [Expression of SCD1 in TFE3-rRCC and its effect on proliferation and migration]. | 0 |
Citation
Roland P Kuiper
TFE3 (transcription factor E3)
Atlas Genet Cytogenet Oncol Haematol. 2004-05-01
Online version: http://atlasgeneticsoncology.org/gene/86/tfe3
Historical Card
2001-08-01 TFE3 (transcription factor E3) by Jean-Loup Huret Affiliation
Dept of Human Genetics-417, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
1999-01-01 TFE3 (transcription factor E3) by Jean-Loup Huret,François Desangles Affiliation
Dept of Human Genetics-417, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
