TFEB
transcription factor EB
Summary
Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including antibacterial innate immune response; cellular response to amino acid starvation; and positive regulation of metabolic process. Located in cytosol and lysosomal membrane. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1040783093 | 6:41,652,401 | G/A | — | uncertain significance |
| rs529500196 | 6:41,652,606 | G/A | — | uncertain significance |
| rs199923357 | 6:41,652,629 | G/A | — | uncertain significance |
| rs762463547 | 6:41,652,654 | G/T | — | uncertain significance |
| rs2532634127 | 6:41,652,762 | T/C | — | likely benign |
| rs770274294 | 6:41,653,871 | C/T | — | uncertain significance |
| rs1768990394 | 6:41,653,878 | G/T | — | uncertain significance |
| rs762070252 | 6:41,653,971 | C/T | — | uncertain significance |
| rs1769049738 | 6:41,654,842 | C/T | — | uncertain significance |
| rs2532645890 | 6:41,655,517 | C/T | — | uncertain significance |
| rs561111743 | 6:41,658,025 | C/T | — | — |
| rs9471627 | 6:41,658,112 | G/C | downstream gene variant | — |
| rs2532658415 | 6:41,658,450 | G/A | — | uncertain significance |
| rs78758100 | 6:41,658,784 | G/A | — | benign |
| rs2532660997 | 6:41,658,801 | G/A | — | uncertain significance |
| rs762308294 | 6:41,658,852 | T/A | — | uncertain significance |
| rs7761800 | 6:41,662,843 | G/C | regulatory region variant | — |
| rs77542887 | 6:41,664,081 | C/T | intron variant | — |
| rs34357137 | 6:41,672,041 | C/G | intron variant | — |
| rs59821259 | 6:41,678,021 | A/G | — | — |
| rs62396733 | 6:41,679,691 | C/T | intron variant | — |
| rs2057069 | 6:41,681,622 | T/G | — | — |
| rs13217983 | 6:41,681,878 | C/T | — | — |
| rs34846419 | 6:41,694,773 | G/A | intron variant | — |
| rs6939861 | 6:41,703,041 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.