TFE3 Gene
Transcription Factor Binding to IGHM Enhancer 3
Gene Information Card
| Symbol | TFE3 |
|---|---|
| Full Name | Transcription Factor Binding to IGHM Enhancer 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 7030 ncbi.nlm.nih.gov/gene/7030 |
| Ensembl ID | ENSG00000068323 |
| UniProt ID | P19532 |
| OMIM ID | 314310 |
| HGNC ID | 11752 |
| Aliases | TFEA, RCCP2, bHLHe33 |
Description
TFE3 is a member of the microphthalmia-associated transcription factor (MiTF/TFE) family. It encodes a basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factor that binds to the E-box motif (5'-CANNTG-3') and regulates genes involved in cell growth, differentiation, and lysosomal biogenesis. TFE3 is frequently involved in chromosomal translocations that generate fusion proteins, leading to oncogenic activation in various cancers, particularly renal cell carcinoma and alveolar soft part sarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alveolar soft part sarcoma (ASPS) | TFE3 fusions (e.g., ASPSCR1-TFE3) result in constitutive nuclear localization and transcriptional activation of target genes. | PMID: 11309367; COSMIC |
| Xp11 translocation renal cell carcinoma | Gene fusions involving TFE3 (e.g., PRCC-TFE3, SFPQ-TFE3, NONO-TFE3) drive tumorigenesis through aberrant transcription. | PMID: 12661006; ClinVar |
| Melanotic Xp11 renal tumor | TFE3 rearrangements with unknown fusion partners lead to overexpression of TFE3 target genes. | PMID: 28190087; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.3 | Medium |
| Heart | 9.8 | Medium |
| Kidney | 8.5 | Medium |
| Lung | 6.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| A549 | 7.8 | Low expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| ASPSCR1-TFE3 fusion | Translocation | Rare in general population; common in ASPS | Constitutive activation of TFE3 transcriptional activity |
| PRCC-TFE3 fusion | Translocation | Rare; specific to Xp11 RCC | Dysregulation of TFE3 target genes |
| SFPQ-TFE3 fusion | Translocation | Rare; specific to Xp11 RCC | Oncogenic fusion protein |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in disease; TFE3 is primarily activated by fusions.
Gain of Function (GOF)
Fusion proteins (e.g., ASPSCR1-TFE3) exhibit gain-of-function by constitutive nuclear localization and enhanced transcriptional activity.
Dominant Negative (DN)
Not described for TFE3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000981 ~ DNA-binding transcription factor activity | • RNA polymerase II-specific |
| • GO:0001228 ~ DNA-binding transcription activator activity | • RNA polymerase II-specific |
| • GO:0005634 ~ nucleus | • GO:0005654 ~ nucleoplasm |
| • GO:0006357 ~ regulation of transcription by RNA polymerase II | • GO:0045893 ~ positive regulation of DNA-templated transcription |
| • GO:0007040 ~ lysosome organization | • GO:0036092 ~ phosphatidylinositol-3-phosphate binding |
Pathways
• MiTF/TFE signaling pathway
• Lysosomal biogenesis and autophagy
• mTORC1 signaling
Protein Summary
TFE3 is a 575-amino acid transcription factor containing a basic helix-loop-helix leucine zipper (bHLH-Zip) domain. It forms homodimers or heterodimers with other MiTF family members (e.g., MITF, TFEB, TFEC) and binds E-box sequences to regulate genes involved in lysosomal biogenesis, autophagy, and cell growth. Under normal conditions, TFE3 is cytoplasmic and translocates to the nucleus upon dephosphorylation. In cancers, chromosomal translocations produce fusion proteins that localize constitutively to the nucleus, driving oncogenic transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFE3 Knockout KGN Cell Line | EDJ-KQ48 | Human | 7030 | Details Get a Quote |
| TFE3 Knockout HEK293 Cell Line | EDC90423 | Human | 7030 | Details Get a Quote |
| TFE3 Knockout A-549 Cell Line | EDJ-KQ21927 | Human | 7030 | Details Get a Quote |
| TFE3 Knockout HCT 116 Cell Line | EDJ-KQ21928 | Human | 7030 | Details Get a Quote |
| TFE3 Knockout HeLa Cell Line | EDJ-KQ20636 | Human | 7030 | Details Get a Quote |
| TFE3 (NC_000023.11:g.49043201C>G) Point Mutation in A-549 Cell Line | EDC03007 | Human | 7030 | Details Get a Quote |
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