Aliases for TFEB Gene

Aliases for TFEB Gene

  • Transcription Factor EB 2 3 4 5
  • Class E Basic Helix-Loop-Helix Protein 35 3 4
  • BHLHE35 3 4
  • BHLHe35 2 4
  • TCFEB 2 3
  • T-Cell Transcription Factor EB 3
  • ALPHATFEB 3
  • TFEB 5

External Ids for TFEB Gene

Previous GeneCards Identifiers for TFEB Gene

  • GC06M041651
  • GC06M041698
  • GC06M041759
  • GC06M041370
  • GC06M041685
  • GC06M041835

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 Pycnodysostosis. Among its related pathways are Mitophagy - animal and Apoptosis and Autophagy. 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 Summary for TFEB Gene

  • Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:30120233, PubMed:31672913). 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 (PubMed:1748288, PubMed:19556463, PubMed:29146937). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423). Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423). 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, thereby playing a central role in expression of lysosomal genes (PubMed:19556463, PubMed:22692423). Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:27278822). 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 (By similarity). Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer (PubMed:2115126). Plays a role in the signal transduction processes required for normal vascularization of the placenta (By similarity).

Gene Wiki entry for TFEB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFEB Gene

Genomics for TFEB Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH06J041718 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 609.1 +8.7 8695 17.7 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 RFX1 SIX5 LEF1 IKZF1 TFEB piR-48759-263 PGC ENSG00000124593 ENSG00000231102 MIR10398 lnc-PGC-1 MDFI RF00017-5530
GH06J041736 Enhancer 0.3 ENCODE dbSUPER 600.7 -0.3 -259 0.2 TFEB PGC RF00017-5530
GH06J041704 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +29.8 29793 4.9 SP1 HNRNPL GATAD2A CTCF ZBTB33 TEAD4 PRDM10 ZNF692 POLR2A BACH1 TFEB TAF8 PGC UBR2 MDFI TREML3P ENSG00000124593 TREM1 piR-33804-064 lnc-MDFI-2
GH06J041711 Enhancer 1 ENCODE dbSUPER 19.3 +22.8 22780 3.8 CEBPG ZIC2 ZSCAN4 PATZ1 IKZF2 POLR2A EED MNT CEBPB ZBTB20 lnc-MDFI-2 TFEB PGC MDFI piR-33804-064 lnc-PGC-1 RF00017-5530
GH06J041697 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.6 +37.7 37726 3 PATZ1 FOS ATF2 BHLHE40 POLR2A JUND CEBPG IKZF1 KLF1 SP7 TFEB ENSG00000231102 PGC MDFI MED20 RF00017-5533 lnc-PGC-2 lnc-PGC-1 RF00017-5530
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFEB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFEB

Top Transcription factor binding sites by QIAGEN in the TFEB gene promoter:
  • Brachyury
  • C/EBPbeta
  • CREB
  • deltaCREB
  • FOXD1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • USF-1
  • USF1

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)
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; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAE77681.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TFEB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFEB Gene

Post-translational modifications for TFEB Gene

  • Phosphorylation by MTOR regulates its subcellular location and activity (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:24081491, PubMed:30120233). When nutrients are present, phosphorylation by MTOR promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:22576015, PubMed:22343943, PubMed:22692423). Inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:22576015, PubMed:22343943, PubMed:22692423). Exported from the nucleus in a mTORC1-dependent manner in response to nutrient availability (PubMed:30120233).
  • Sumoylated; does not affect dimerization with MITF.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for TFEB Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for TFEB Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor EB (B0QYS6_HUMAN)
  • Transcription factor EB (B0QYS7_HUMAN)
  • cDNA FLJ37742 fis, clone BRHIP2022054, highly similar to Transcription factor EB (B1AKB4_HUMAN)
  • Transcription factor EB (B1AKB5_HUMAN)
  • Transcription factor EB (Q709A5_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:30120233, PubMed:31672913). 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 (PubMed:1748288, PubMed:19556463, PubMed:29146937). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423). Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423). 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, thereby playing a central role in expression of lysosomal genes (PubMed:19556463, PubMed:22692423). Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:27278822). 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 (By similarity). Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer (PubMed:2115126). Plays a role in the signal transduction processes required for normal vascularization of the placenta (By similarity).
GENATLAS Biochemistry:
transcription factor EB,highly recognizing the EB box sequences in the heavy chain immunoglobulin enhancer,murine Tcfeb ortholog

Phenotypes From GWAS Catalog for TFEB Gene

Gene Ontology (GO) - Molecular Function for TFEB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19556463
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity NAS 2115126
GO:0005515 protein binding IPI 22343943
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:
  • Tfeb Tfeb<tm1Est>
  • Tfeb Tfeb<tm1b(EUCOMM)Wtsi>
  • Tfeb Tfeb<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for TFEB Gene

miRTarBase miRNAs that target TFEB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFEB

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, cytosol. Lysosome membrane. Nucleus. Note=Mainly present in the cytoplasm (PubMed:23434374). Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus (PubMed:21617040, PubMed:22576015, PubMed:23434374). The translocation to the nucleus is regulated by ATP13A2 (PubMed:23434374, PubMed:27278822). Colocalizes with mTORC1 on the lysosomal membrane: when nutrients are present, phosphorylation by MTOR prevents nuclear translocation and activity (PubMed:22343943, PubMed:22692423). Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:22343943, PubMed:22692423). Exported from the nucleus in response to nutrient availability (PubMed:30120233). In macrophages, translocates into the nucleus upon live S.enterica infection (PubMed:27184844). {ECO:0000269 PubMed:21617040, ECO:0000269 PubMed:22343943, ECO:0000269 PubMed:22576015, ECO:0000269 PubMed:22692423, ECO:0000269 PubMed:23434374, ECO:0000269 PubMed:27184844, ECO:0000269 PubMed:27278822, ECO:0000269 PubMed:30120233}.

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 5
lysosome 5
endosome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2

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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus NAS 2115126
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19556463
GO:0005765 lysosomal membrane IDA 22343943
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

1 KEGG pathway for TFEB Gene
2 Cell Signaling Technology pathways for TFEB Gene

SIGNOR curated interactions for TFEB Gene

Is activated by:
Is inactivated by:

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:0006355 regulation of transcription, DNA-templated NAS 2115126
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with TFEB: view

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

mRNA/cDNA for TFEB Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFEB

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

Expression for TFEB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TFEB Gene



Protein tissue co-expression partners for TFEB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFEB

SOURCE GeneReport for Unigene cluster for TFEB Gene:

Hs.485360

Evidence on tissue expression from TISSUES for TFEB Gene

  • Nervous system(4.7)
  • Kidney(4.5)
  • Lung(4.4)
  • Muscle(3.1)
  • Heart(2.8)
  • Blood(2.7)
  • Liver(2.6)
  • Skin(2.5)
  • Spleen(2.5)
  • Intestine(2.5)
  • Lymph node(2.5)
  • Pancreas(2.1)
  • Eye(2)

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

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 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFEB 30 31
  • 89.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TFEB 30 31
  • 89.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tfeb 30 17 31
  • 88.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tfeb 30
  • 88.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia TFEB 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TFEB 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TFEB 30 31
  • 79.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TFEB 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tfeb 30
  • 66.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii tfeb 30 31
  • 64.65 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Mitf 31
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-30 31
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for TFEB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TFEB: view image

Paralogs for TFEB Gene

Paralogs for TFEB Gene

(4) SIMAP similar genes for TFEB Gene using alignment to 13 proteins:

  • TFEB_HUMAN
  • B0QYS6_HUMAN
  • B0QYS7_HUMAN
  • B1AKA7_HUMAN
  • B1AKA9_HUMAN
  • B1AKB1_HUMAN
  • B1AKB2_HUMAN
  • B1AKB4_HUMAN
  • B1AKB5_HUMAN
  • Q709A5_HUMAN
  • Q709A8_HUMAN
  • Q709A9_HUMAN
  • Q709B0_HUMAN
genes like me logo Genes that share paralogs with TFEB: view

Variants for TFEB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFEB Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
717491 Benign: not provided 41,691,046(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TFEB Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TFEB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
renal cell carcinoma, xp11-associated
  • rccx1
pycnodysostosis
  • pyknodysostosis; pknd
danon disease
  • vacuolar cardiomyopathy and myopathy, x-linked
eosinophilic variant of chromophobe renal cell carcinoma
microphthalmia
  • microphthalmos
- 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 23
  2. A gene network regulating lysosomal biogenesis and function. (PMID: 19556463) Sardiello M … Ballabio A (Science (New York, N.Y.) 2009) 3 4 23
  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 23
  4. mTOR-dependent phosphorylation controls TFEB nuclear export. (PMID: 30120233) Napolitano G … Ballabio A (Nature communications 2018) 3 4
  5. TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes. (PMID: 29146937) Willett R … Puertollano R (Nature communications 2017) 3 4

Products for TFEB Gene

Sources for TFEB Gene