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Aliases for TFEB Gene

Aliases for TFEB Gene

  • Transcription Factor EB 2 3
  • Class E Basic Helix-Loop-Helix Protein 35 3 4
  • BHLHE35 3 4
  • TCFEB 3 6
  • T-Cell Transcription Factor EB 3
  • ALPHATFEB 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 pycnodysostosis. Among its related pathways are Translational Control and Apoptosis and Autophagy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is MITF.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TFEB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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)

No data available for DME Specific Peptides for TFEB Gene

Domains for TFEB Gene

Gene Families for TFEB Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for TFEB Gene

Graphical View of Domain Structure for InterPro Entry

P19484

UniProtKB/Swiss-Prot:

TFEB_HUMAN :
  • P19484
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.

Gene Ontology (GO) - Molecular Function for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 2115126
GO:0044212 transcription regulatory region DNA binding IDA 19556463
GO:0046982 protein heterodimerization activity --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with TFEB: view
genes like me logo Genes that share phenotypes with TFEB: view

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) , Transcription Factor Targeting 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
cytosol 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 2115126
GO:0005667 transcription factor complex --
GO:0005737 cytoplasm IDA 19556463
genes like me logo Genes that share ontologies with TFEB: view

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 2115126
GO:0006914 autophagy IEA --
GO:0006959 humoral immune response ISS --
genes like me logo Genes that share ontologies with TFEB: view

Compounds for TFEB Gene

(1) Novoseek inferred chemical compound relationships for TFEB Gene

Compound -log(P) Hits PubMed IDs
leucine 54.8 5
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFEB

Primer Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for TFEB Gene

This gene is overexpressed in Whole Blood (8.0).

Integrated Proteomics: protein expression 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 expressions with TFEB: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
chimpanzee
(Pan troglodytes)
Mammalia TFEB 35
  • 99.59 (n)
  • 99.8 (a)
TFEB 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TFEB 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFEB 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfeb 35
  • 88.34 (n)
  • 93.58 (a)
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 MAF
rs14063 -- 41,684,398(-) GCCCT(A/C/G/T)TTGAC utr-variant-3-prime
rs742732 -- 41,693,772(-) GGCAT(C/T)TGCTC intron-variant
rs761353 -- 41,716,907(-) TTAGG(G/T)TCGAA intron-variant
rs761354 -- 41,694,838(-) GGGAA(A/G)TGCCC intron-variant
rs1015149 -- 41,691,151(+) TCCCG(C/T)TGCTC synonymous-codon, reference

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

Relevant External Links for TFEB Gene

HapMap Linkage Disequilibrium report
TFEB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFEB Gene

Disorders for TFEB Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for TFEB Gene including...

Search for TFEB Gene in MalaCards »

(3) University of Copenhagen DISEASES for TFEB Gene

(6) Novoseek inferred disease relationships for TFEB Gene

Disease -log(P) Hits PubMed IDs
microphthalmia 74 2
carcinoma renal cell 68.4 2
kidney tumor 52.3 3
carcinoma 34.9 3
tumors 19.2 6

Relevant External Links for TFEB

Genetic Association Database (GAD)
TFEB
genes like me logo Genes that share disorders with TFEB: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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 4 23
  3. A gene network regulating lysosomal biogenesis and function. (PMID: 19556463) Sardiello M. … Ballabio A. (Science 2009) 3 4 23
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. ZKSCAN3 is a master transcriptional repressor of autophagy. (PMID: 23434374) Chauhan S. … Boyd D.D. (Mol. Cell 2013) 3 4

Products for TFEB Gene

  • Addgene plasmids for TFEB

Sources for TFEB Gene

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