TFE3
Summary: This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transcription factor binding to IGHM enhancer 3 | MIM:314310 | Ensembl:ENSG00000068323 | HGNC:HGNC:11752 | PA36467 | Xp11.23 |
GO terms in TFE3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IMP | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| BP | IEA | GO:0002250 | adaptive immune response |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | ISS | GO:0006959 | humoral immune response |
| BP | IEA | GO:0045670 | regulation of osteoclast differentiation |
| BP | IMP | GO:0045785 | positive regulation of cell adhesion |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| MF | IEA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0044212 | transcription regulatory region DNA binding |
| MF | IEA | GO:0046983 | protein dimerization activity |
Gene expression in normal tissue: TFE3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TFE3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP4241 | Type 2 papillary renal cell carcinoma |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| kegg | hsa04137 | Mitophagy - animal - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05211 | Renal cell carcinoma - Homo sapiens (human) |
| pid | e2f_pathway | E2F transcription factor network |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD367 | Ro 28-1675 | 3 |
| iGMDRD366 | PI-103 | 2 |
| iGMDRD147 | Prima-1 | 3 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD137 | Indisulam | 4 |
| iGMDRD192 | CIL56 | 3 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD221 | Tamoxifen | 3 |
| iGMDRD213 | SMR000068650 | 3 |
| iGMDRD415 | LE-135 | 2 |
| iGMDRD341 | Triacsin c | 7 |
| iGMDRD307 | Manumycin A | 2 |
| iGMDRD248 | BRD4354 | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD532 | Olaparib | 3 |
| iGMDRD730 | Kahalalide F | 2 |
| iGMDRD74 | Idarubicin | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD100 | Zebularine | 1 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD369 | TGX-115 | 2 |
| iGMDRD690 | PRIMA-1MET | 3 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD268 | Cerulenin | 3 |
| iGMDRD598 | QS-11 | 2 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD318 | PAC-1 | 4 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 3 |
| iGMDRD163 | all trans Retinoic Acid | 3 |
| iGMDRD793 | BEC (hydrochloride) | 2 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD375 | GW-405833 | 3 |
| iGMDRD126 | Tipifarnib | 8 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD425 | ERASTIN | 3 |
| iGMDRD579 | PF750 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TFE3
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