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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 Renal Cell Carcinoma, Xp11-Associated and Microphthalmia. Among its related pathways are Mitophagy - animal and PI3K-AKT-mTOR signaling pathway and therapeutic opportunities. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein dimerization activity. 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

Additional gene information for TFEB Gene

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

Genomics for TFEB Gene

GeneHancer (GH) Regulatory Elements for TFEB Gene

Promoters and enhancers for TFEB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I041718 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.1 +8.8 8760 17.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YBX1 TFEB PGC ENSG00000124593 ENSG00000231102
GH06I041736 Enhancer 0.4 ENCODE dbSUPER 550.8 -0.3 -259 0.2 TFEB PGC
GH06I041704 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +29.8 29793 4.9 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF2 IRF4 ZNF48 ARID2 ZNF207 GC06M041707 GC06M041708 TFEB TAF8 PGC UBR2 MDFI TREML3P ENSG00000124593 TREM1
GH06I041711 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.3 +22.8 22780 3.8 HDGF ZSCAN4 KLF17 BATF IRF4 YY1 ATF7 ETV6 FOS BCLAF1 GC06P042399 TFEB PGC MDFI GC06M041707 GC06M041708
GH06I041697 Enhancer 1 Ensembl ENCODE dbSUPER 17.6 +37.7 37726 3 KLF1 ZEB2 ATF2 ZNF121 JUND POLR2A IKZF1 PATZ1 FOS SP7 TFEB ENSG00000231102 PGC MDFI MED20 GC06M041707 GC06M041708 GC06P042391
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFEB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFEB gene promoter:

Genomic Locations for TFEB Gene

Genomic Locations for TFEB Gene
chr6:41,683,978-41,736,259
(GRCh38/hg38)
Size:
52,282 bases
Orientation:
Minus strand
chr6:41,651,716-41,703,997
(GRCh37/hg19)

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

Post-translational modifications for TFEB Gene

No data available for DME Specific Peptides for TFEB Gene

Domains & Families for TFEB Gene

Gene Families for TFEB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

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.
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.

Phenotypes From GWAS Catalog for TFEB Gene

Gene Ontology (GO) - Molecular Function for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity NAS 2115126
GO:0044212 transcription regulatory region DNA binding IDA 19556463
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFEB

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 (PubMed:23434374). Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus (PubMed:23434374). In macrophages, translocates into the nucleus upon live S.enterica infection (PubMed:27184844). {ECO:0000269 PubMed:23434374, ECO:0000269 PubMed:27184844}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFEB gene
Compartment Confidence
nucleus 5
cytosol 3
lysosome 3
mitochondrion 2
endosome 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 2115126
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 19556463
genes like me logo Genes that share ontologies with TFEB: view

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
1 KEGG pathway 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:0002376 immune system process IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 2115126
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFEB

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TFEB Gene



Protein tissue co-expression partners for TFEB Gene

NURSA nuclear receptor signaling pathways regulating expression of TFEB Gene:

TFEB

SOURCE GeneReport for Unigene cluster for TFEB Gene:

Hs.485360

Evidence on tissue expression from TISSUES for TFEB Gene

  • Nervous system(4.5)
  • Kidney(4.4)
  • Lung(4.2)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFEB Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with TFEB: view

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
chimpanzee
(Pan troglodytes)
Mammalia TFEB 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia TFEB 33 34
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia TFEB 33 34
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Tfeb 33 16 34
  • 88.8 (n)
rat
(Rattus norvegicus)
Mammalia Tfeb 33
  • 88.34 (n)
oppossum
(Monodelphis domestica)
Mammalia TFEB 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFEB 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFEB 33 34
  • 79.05 (n)
lizard
(Anolis carolinensis)
Reptilia TFEB 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfeb 33
  • 66.27 (n)
zebrafish
(Danio rerio)
Actinopterygii tfeb 33 34
  • 64.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mitf 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-30 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for TFEB was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000086416 -- 41,697,274(-) G/A intron_variant
rs1000121533 -- 41,701,465(-) A/C intron_variant
rs1000228983 -- 41,723,696(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000281449 -- 41,723,878(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000286230 -- 41,695,131(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv7893 CNV gain 18304495
nsv602988 CNV loss 21841781
nsv602977 CNV gain 21841781
nsv526309 CNV loss 19592680
nsv479034 CNV novel sequence insertion 20440878
nsv1114799 CNV deletion 24896259
esv29515 CNV loss 19812545
esv2759422 CNV loss 17122850
dgv10638n54 CNV loss 21841781
dgv10637n54 CNV gain 21841781
dgv10636n54 CNV gain 21841781
dgv10635n54 CNV loss 21841781

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)

Additional Variant Information for TFEB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFEB

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

Disorders for TFEB Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search TFEB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 CS … Sharp PA (Molecular and cellular biology 1990) 2 3 4 22 58
  2. A gene network regulating lysosomal biogenesis and function. (PMID: 19556463) Sardiello M … Ballabio A (Science (New York, N.Y.) 2009) 3 4 22 58
  3. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. (PMID: 15118077) Kuiper RP … van Kessel AG (Nucleic acids research 2004) 3 4 22 58
  4. ZKSCAN3 is a master transcriptional repressor of autophagy. (PMID: 23434374) Chauhan S … Boyd DD (Molecular cell 2013) 3 4 58
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 44 58

Products for TFEB Gene

  • Addgene plasmids for TFEB

Sources for TFEB Gene

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