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Symbol TFEB contributors: mct - updated : 01-10-2012
HGNC name transcription factor EB
HGNC id 11753
Location 6p21.1      Physical location : 41.651.715 - 41.703.997
Synonym name
  • T-cell transcription factor EB
  • class E basic helix-loop-helix protein 35
  • Synonym symbol(s) ALPHATFEB, BHLHE35, TCFEB, EVI133
    TYPE functioning gene
    STRUCTURE 51.08 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D6S1549 - D6S1672 - TFEB - D6S1552 - D6S400 - qter
    Physical map
    UNC5CL 6p21.1 unc-5 homolog C (C. elegans)-like BZRPL1 6p21.1 benzodiazapine receptor (peripheral)-like 1 APOBEC2 6p21 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 C6orf130 6p21.1 chromosome 6 open reading frame 130 NFYA 6p21.3 nuclear transcription factor Y, alpha LOC221442 6p21.1 hypothetical protein LOC221442 TREML1 6p21.1 triggering receptor expressed on myeloid cells-like 1 TREM2 6p21.1 triggering receptor expressed on myeloid cells 2 C6orf76 6p21.1 chromosome 6 open reading frame 76 LOC285852 6p21.1 hypothetical protein LOC285852 TREM1 6p21.1 triggering receptor expressed on myeloid cells 1 NCR2 6p21.1 natural cytotoxicity triggering receptor 2 FOXP4 6p21.1 forkhead box P4 MDFI 6p21 MyoD family inhibitor TFEB 6p21 transcription factor EB PGC 6p22-p12 progastricsin (pepsinogen C) FRS3 6p21.1 fibroblast growth factor receptor substrate 3 C6orf49 6p21.31 chromosome 6 open reading frame 49 MGC20741 6p21 ubiquitin specific protease 49 USP49 6p12.1 ubiquitin specific protease 49 BYSL 6p21.1 bystin-like CCND3 6p21 cyclin D3 TBN 6p21.1 taube nuss homolog (mouse) LOC389389 6 similar to hypothetical protein BC006605 GUCA1A 6p21.1 guanylate cyclase activator 1A (retina) GUCA1B 6p21.1 guanylate cyclase activator 1B (retina) MRPS10 6p21.1-p12.1 mitochondrial ribosomal protein S10 TRERF1 6p21.1-p12.1 transcriptional regulating factor 1
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2198 - 476 - 2003 12719541
    10 splicing 2364 - 476 - 2003 12719541
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta  highly Homo sapiens
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text eye, lens, eye anterior segment, retina foveal, macular, RPE, choroid
    HLH and ZIP domains
    interspecies ortholog to Tfeb, Mus musculus
    ortholog to Tfeb, Rattus norvegicus
    ortholog to tfeb, Danio rerio
    ortholog to TFEB, Pan troglodytes
    FAMILY basic Helix-Loop-Helix-Zipper family of transcription factors
    CATEGORY transcription factor , receptor membrane kinase
    SUBCELLULAR LOCALIZATION     intracellular
  • colocalizes with master growth regulator MTOR on the lysosomal membrane
  • MTOR regulates nuclear localization and activity of TFEB
  • basic FUNCTION
  • plays a critical role in the signal transduction processes required for normal vascularization of the placenta
  • endogenous TFE3 and/or TFEB was required for endogenous CDH1 expression in embryonic kidney cells
  • TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor MITF
  • TFE3 and TFEB are direct, physiological and mutually redundant activators of CD40LG expression in activated CD4(+) T cells critical for T cell-dependent antibody responses
  • a master gene for lysosomal biogenesis, coordinated this program by driving expression of autophagy and lysosomal genes
  • required for the expression of a large subset of MTOR responsive genesb
  • regulates lysosomal exocytosis
  • master regulator of lysosomal biogenesis
  • active TFEB also associates with late endosomal/lysosomal membranes through interaction with the LAMTOR/RRAG/MTOR complex
  • TFEB alone was capable of reducing HTT aggregation and neurotoxicity
  • CELLULAR PROCESS nucleotide, transcription, regulation
    a component
  • E-box sequences in the heavy-chain immunoglobulin enhancer (
  • RNA
    small molecule
  • MITF, TFE3 and TFEC (
  • TFE3 and TFEB are cell type-specific leukemia inhibitory factor-responsive activators of E-cadherin (CDH1)
  • tends to bind to the core promoters of its targets genes
  • TFEB targets control multiple sequential steps of at least five degradation pathways, including the degradation of heparan and keratan sulfate *
  • also targets genes encoding the subunits of the vacuolar proton pump, which creates and maintains the lysosomal acidic environment
  • interacting with MTOR (coordinately regulates TFEB phosphorylation and nuclear localization and in a manner dependent on both TFEB and ATP6VH, MTOR promotes endocytosis)
  • interacting with the Rag GTPase complex, which senses lysosomal amino acids and activates MTOR, and is both necessary and sufficient to regulate starvation- and stress-induced nuclear translocation of TFEB
  • PPARGC1A promoted HTT turnover and the elimination of protein aggregates by activating TFEB, a master regulator of the autophagy-lysosome pathway
  • interaction of TFEB with active Rag heterodimers promoted recruitment of TFEB to lysosomes, leading to MTOR-dependent phosphorylation and inhibition of TFEB
  • lysosomal Ca2+ release through MCOLN1 activates PPP3CA, which binds and dephosphorylates &
  • 8203;TFEB, thus promoting its nuclear translocation
  • KDM7A mediates TNF-induced ICAM1 protein upregulation mediated by induction of KDM7A, which regulates the TFEB-mediated lysosomal activity
  • cell & other
    Phosphorylated by signal-regulated kinase 2 (
    phosphorylated in Ser211 in an MTOR-dependent manner
    corresponding disease(s)
    Variant & Polymorphism
    Candidate gene
    Therapy target
    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
  • 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