Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TFEB contributors: mct - updated : 11-04-2022
HGNC name transcription factor EB
HGNC id 11753
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
BYSL-TFEB fusion in sarcomatoid renal cell tumor
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
metabolismlysosome 
induction of lysosomal exocytosis by TFEB overexpression rescued pathologic storage and restored normal cellular morphology in lysosomal storage diseases (LSDs)
neurologyneurodegenerativehuntington chorea
PPARGC1A upstream of TFEB are important therapeutic targets in HD and potentially other neurodegenerative disorders caused by protein misfolding
cancerreproductivebreast
pharmacological activation of TFEB would be a promising therapeutic approach to improve the efficacy of existing treatment including immune therapies for breast cancer
cardiovascularcardiomyopathy 
Activation of TFEB represents a potential therapeutic strategy for treating cardiac hypertrophy
ANIMAL & CELL MODELS
  • mice with a targeted disruption of Tfeb die between 9.5 and 10.5 days in embryonic development and have severe defects in placental vascularization
  • combined inactivation of Tfe3 and TfeB in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells