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Aliases for TFEB Gene

Aliases for TFEB Gene

  • Transcription Factor EB 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 35 3 4
  • BHLHE35 3 4
  • T-Cell Transcription Factor EB 3
  • ALPHATFEB 3
  • TCFEB 3

External Ids for TFEB Gene

Previous GeneCards Identifiers for TFEB Gene

  • GC06M041651
  • GC06M041698
  • GC06M041759
  • GC06M041370

Summaries for TFEB Gene

GeneCards Summary for TFEB Gene

TFEB (Transcription Factor EB) is a Protein Coding gene. Diseases associated with TFEB include Translocation Renal Cell Carcinoma and Kidney Cancer. Among its related pathways are Apoptosis and Autophagy and Translational Control. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is TFE3.

UniProtKB/Swiss-Prot for TFEB Gene

  • Transcription factor that specifically recognizes and binds E-box sequences (5-CANNTG-3). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5-GTCACGTGAC-3) present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta.

Gene Wiki entry for TFEB Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFEB Gene

Genomics for TFEB Gene

Regulatory Elements for TFEB Gene

Enhancers for TFEB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TFEB on UCSC Golden Path with GeneCards custom track

Genomic Location for TFEB Gene

Chromosome:
6
Start:
41,683,978 bp from pter
End:
41,736,259 bp from pter
Size:
52,282 bases
Orientation:
Minus strand

Genomic View for TFEB Gene

Genes around TFEB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFEB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFEB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFEB Gene

Proteins for TFEB Gene

  • Protein details for TFEB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19484-TFEB_HUMAN
    Recommended name:
    Transcription factor EB
    Protein Accession:
    P19484
    Secondary Accessions:
    • Q709B3
    • Q7Z6P9
    • Q9BRJ5
    • Q9UJD8

    Protein attributes for TFEB Gene

    Size:
    476 amino acids
    Molecular mass:
    52865 Da
    Quaternary structure:
    • Homodimer and heterodimer; with TFE3 or MITF.
    SequenceCaution:
    • Sequence=AAA36730.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE77681.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TFEB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFEB Gene

Proteomics data for TFEB Gene at MOPED

Post-translational modifications for TFEB Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TFEB (TFEB)
  • Abcam antibodies for TFEB

No data available for DME Specific Peptides for TFEB Gene

Domains & Families for TFEB Gene

Gene Families for TFEB Gene

Protein Domains for TFEB Gene

Graphical View of Domain Structure for InterPro Entry

P19484

UniProtKB/Swiss-Prot:

TFEB_HUMAN :
  • The leucin zipper region is essential for homo- or heterodimerization and high-affinity DNA binding. DNA binding is mediated by the basic region.
  • Belongs to the MiT/TFE family.
Domain:
  • The leucin zipper region is essential for homo- or heterodimerization and high-affinity DNA binding. DNA binding is mediated by the basic region.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Family:
  • Belongs to the MiT/TFE family.
genes like me logo Genes that share domains with TFEB: view

Function for TFEB Gene

Molecular function for TFEB Gene

GENATLAS Biochemistry:
transcription factor EB,highly recognizing the EB box sequences in the heavy chain immunoglobulin enhancer,murine Tcfeb ortholog
UniProtKB/Swiss-Prot Function:
Transcription factor that specifically recognizes and binds E-box sequences (5-CANNTG-3). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5-GTCACGTGAC-3) present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta.
genes like me logo Genes that share phenotypes with TFEB: view

Human Phenotype Ontology for TFEB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFEB Gene

MGI Knock Outs for TFEB:

Animal Model Products

CRISPR Products

miRNA for TFEB Gene

miRTarBase miRNAs that target TFEB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TFEB Gene

Localization for TFEB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFEB Gene

Cytoplasm. Nucleus. Note=Mainly present in the cytoplasm. Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFEB Gene COMPARTMENTS Subcellular localization image for TFEB gene
Compartment Confidence
nucleus 5
lysosome 3
vacuole 3
cytosol 2
endosome 1
extracellular 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TFEB Gene

Pathways & Interactions for TFEB Gene

genes like me logo Genes that share pathways with TFEB: view

Pathways by source for TFEB Gene

2 Cell Signaling Technology pathways for TFEB Gene

Gene Ontology (GO) - Biological Process for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001892 embryonic placenta development ISS --
GO:0002250 adaptive immune response IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,NAS 2115126
GO:0006959 humoral immune response ISS --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TFEB: view

No data available for SIGNOR curated interactions for TFEB Gene

Drugs & Compounds for TFEB Gene

(1) Drugs for TFEB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TFEB: view

Transcripts for TFEB Gene

Unigene Clusters for TFEB Gene

Transcription factor EB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TFEB Gene

No ASD Table

Relevant External Links for TFEB Gene

GeneLoc Exon Structure for
TFEB
ECgene alternative splicing isoforms for
TFEB

Expression for TFEB Gene

mRNA expression in normal human tissues for TFEB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFEB Gene

This gene is overexpressed in Whole Blood (x8.0).

Protein differential expression in normal tissues from HIPED for TFEB Gene

This gene is overexpressed in Monocytes (25.3), Blymphocyte (21.8), NK cells (7.0), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TFEB Gene



SOURCE GeneReport for Unigene cluster for TFEB Gene Hs.485360

genes like me logo Genes that share expression patterns with TFEB: view

Protein tissue co-expression partners for TFEB Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TFEB Gene

Orthologs for TFEB Gene

This gene was present in the common ancestor of animals.

Orthologs for TFEB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TFEB 35
  • 89.82 (n)
  • 93.68 (a)
TFEB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFEB 35
  • 89.9 (n)
  • 93.22 (a)
TFEB 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfeb 35
  • 88.8 (n)
  • 93.15 (a)
Tfeb 16
Tfeb 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFEB 35
  • 99.59 (n)
  • 99.8 (a)
TFEB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfeb 35
  • 88.34 (n)
  • 93.58 (a)
oppossum
(Monodelphis domestica)
Mammalia TFEB 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFEB 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFEB 35
  • 79.05 (n)
  • 80.44 (a)
TFEB 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFEB 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfeb 35
  • 66.27 (n)
  • 68.84 (a)
zebrafish
(Danio rerio)
Actinopterygii tfeb 35
  • 64.65 (n)
  • 60.04 (a)
tfeb 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mitf 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-30 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for TFEB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFEB Gene

ENSEMBL:
Gene Tree for TFEB (if available)
TreeFam:
Gene Tree for TFEB (if available)

Paralogs for TFEB Gene

Paralogs for TFEB Gene

genes like me logo Genes that share paralogs with TFEB: view

Variants for TFEB Gene

Sequence variations from dbSNP and Humsavar for TFEB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1015149 -- 41,691,151(+) TCCCG(C/T)TGCTC reference, synonymous-codon
rs1015150 -- 41,691,566(+) atcca(C/T)cctcc intron-variant
rs1062966 -- 41,684,866(-) CCACC(A/G)TCCCC reference, synonymous-codon
rs1076727 -- 41,686,372(+) AGGTG(A/G)CTGAT intron-variant
rs6458235 -- 41,697,354(+) agtga(A/G)ctgag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TFEB Gene

Variant ID Type Subtype PubMed ID
dgv1943e1 CNV Complex 17122850
dgv6837n71 CNV Loss 21882294
nsv526309 CNV Loss 19592680
nsv7893 CNV Gain 18304495
esv29515 CNV Loss 19812545

Variation tolerance for TFEB Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.12% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TFEB Gene

Disorders for TFEB Gene

MalaCards: The human disease database

(4) MalaCards diseases for TFEB Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
translocation renal cell carcinoma
  • carcinoma associated with mitf/tfe translocation
kidney cancer
  • renal cell carcinoma
childhood kidney cell carcinoma
  • pediatric renal cell carcinoma
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards
Search TFEB in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFEB

Genetic Association Database (GAD)
TFEB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFEB
genes like me logo Genes that share disorders with TFEB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFEB Gene

Publications for TFEB Gene

  1. A helix-loop-helix protein related to the immunoglobulin E box- binding proteins. (PMID: 2115126) Carr C.S. … Sharp P.A. (Mol. Cell. Biol. 1990) 2 3 4 23 67
  2. A gene network regulating lysosomal biogenesis and function. (PMID: 19556463) Sardiello M. … Ballabio A. (Science 2009) 3 23
  3. Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient. (PMID: 17285572) Pecciarini L. … Doglioni C. (Genes Chromosomes Cancer 2007) 3 23
  4. Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. (PMID: 15644781) Argani P. … Ladanyi M. (Am. J. Surg. Pathol. 2005) 3 23
  5. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. (PMID: 15118077) Kuiper R.P. … Geurts van Kessel A. (Nucleic Acids Res. 2004) 3 23

Products for TFEB Gene

Sources for TFEB Gene

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