TFEB: Transcription Factor EB
Master Regulator of Lysosomal Biogenesis and Autophagy
Gene Information Card
| Symbol | TFEB |
|---|---|
| Full Name | Transcription Factor EB |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 7942 ncbi.nlm.nih.gov/gene/7942 |
| Ensembl ID | ENSG00000112561 |
| UniProt ID | P19484 |
| OMIM ID | 600744 |
| HGNC ID | 11753 |
| Aliases | ALPHATFEB, BHLHE35, TCFEB |
Description
TFEB (Transcription Factor EB) is a basic helix-loop-helix leucine zipper transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, and lysosomal exocytosis. It binds to CLEAR (Coordinated Lysosomal Expression and Regulation) elements in the promoters of target genes, driving their expression in response to nutrient and stress signals. TFEB activity is primarily regulated by phosphorylation-dependent nuclear translocation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal Cell Carcinoma (translocation-associated) | TFEB gene fusions (e.g., MALAT1-TFEB) lead to constitutive nuclear localization and overexpression, driving oncogenesis. | COSMIC, NCBI, PMID: 26619011 |
| Lysosomal Storage Disorders (e.g., Gaucher, Pompe) | TFEB overexpression enhances lysosomal function and clearance of storage material in cellular models. | NCBI, PMID: 23563491 |
| Neurodegenerative diseases (e.g., Parkinson's, Alzheimer's) | TFEB-mediated autophagy induction reduces accumulation of aggregated proteins (e.g., alpha-synuclein, tau). | NCBI, PMID: 23563491 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.2 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.5 | High expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TFEB-MALAT1 fusion | Gene fusion | Rare | Constitutive nuclear localization and transcriptional activation; associated with renal cell carcinoma. |
| p.Ser142Ala | Missense | Unknown | Reduced phosphorylation, increased nuclear translocation and activity. |
| p.Ser211Ala | Missense | Unknown | Loss of phosphorylation site, constitutive nuclear localization. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare; complete knockout is embryonic lethal in mice.
Gain of Function (GOF)
Gene fusions (e.g., MALAT1-TFEB) and phosphosite mutations (e.g., S142A, S211A) result in constitutive nuclear localization and increased transcriptional activity.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lysosomal biogenesis and autophagy (CLEAR network)
• mTORC1 signaling (TFEB regulation)
• TFEB-mediated lysosomal exocytosis
Protein Summary
TFEB is a 476-amino acid protein containing a basic helix-loop-helix (bHLH) domain and a leucine zipper (LZ) domain. It shuttles between the cytoplasm and nucleus; under nutrient-rich conditions, it is phosphorylated by mTORC1 and retained in the cytoplasm. Upon starvation or lysosomal stress, TFEB is dephosphorylated and translocates to the nucleus, where it activates genes involved in lysosomal biogenesis, autophagy, and lysosomal exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFEB Knockout KGN Cell Line | EDJ-KQ49 | Human | 7942 | Details Get a Quote |
| TFEB Knockout HEK293 Cell Line | EDJ-KQ15711 | Human | 7942 | Details Get a Quote |
| TFEB Knockout A-549 Cell Line | EDJ-KQ46618 | Human | 7942 | Details Get a Quote |
| TFEB Knockout HCT 116 Cell Line | EDJ-KQ46619 | Human | 7942 | Details Get a Quote |
| TFEB Knockout HeLa Cell Line | EDJ-KQ46620 | Human | 7942 | Details Get a Quote |
| TFEB Knockout L-02 Cell Line | EDJ-KZ505 | Human | 7942 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
