Aliases for TFEB Gene
External Ids for TFEB Gene
Previous GeneCards Identifiers for TFEB Gene
GeneCards Summary for TFEB Gene
TFEB (Transcription Factor EB) is a Protein Coding gene. Diseases associated with TFEB include translocation renal cell carcinoma and pycnodysostosis. Among its related pathways are Translational Control and Apoptosis and Autophagy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is MITF.
UniProtKB/Swiss-Prot for TFEB Gene
Transcription factor that specifically recognizes and binds E-box sequences (5-CANNTG-3). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5-GTCACGTGAC-3) present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta.