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 Renal Cell Carcinoma, Papillary and Microphthalmia. Among its related pathways are Apoptosis and Autophagy and PI3K-AKT-mTOR signaling pathway and therapeutic opportunities. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. 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.