TFEB transcription factor EB
Gene ID: 7942, updated on 16-Apr-2024Gene type: protein coding
Also known as: TCFEB; BHLHE35; ALPHATFEB
- See all available tests in GTR for this gene
- Go to complete Gene record for TFEB
- Go to Variation Viewer for TFEB variants
Summary
Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including cellular response to amino acid starvation; lysosome localization; and positive regulation of autophagy. Located in cytosol; lysosomal membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.1
- Sequence:
- Chromosome: 6; NC_000006.12 (41683978..41736223, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TFEB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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