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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFEB Gene

protein-coding   GIFtS: 54
GCID: GC06M041651

Transcription Factor EB

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transcription Factor EB1 2     ALPHATFEB2
Class E Basic Helix-Loop-Helix Protein 352 3     T-Cell Transcription Factor EB2
BHLHE352 3     bHLHe353
TCFEB2 5     

External Ids:    HGNC: 117531   Entrez Gene: 79422   Ensembl: ENSG000001125617   OMIM: 6007445   UniProtKB: P194843   

Export aliases for TFEB gene to outside databases

Previous GC identifers: GC06M041698 GC06M041759 GC06M041370


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MITF.

UniProtKB/Swiss-Prot: TFEB_HUMAN, P19484
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 Wiki entry for TFEB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFEB gene promoter:
         USF1   C/EBPbeta   Brachyury   SREBP-1c   FOXD1   SREBP-1b   CREB   SREBP-1a   USF-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TFEB promoter sequence
   Search SABiosciences Chromatin IP Primers for TFEB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFEB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21

TFEB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFEB gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M041651:  view genomic region     (about GC identifiers)

Start:
41,651,716 bp from pter      End:
41,703,997 bp from pter
Size:
52,282 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TFEB_HUMAN, P19484 (See protein sequence)
Recommended Name: Transcription factor EB  
Size: 476 amino acids; 52865 Da
Subunit: Homodimer and heterodimer; with TFE3 or MITF
Subcellular location: Cytoplasm. Nucleus. Note=Mainly present in the cytoplasm. Under aberrant lysosomal storage
conditions, it translocates from the cytoplasm to the nucleus
Sequence caution: Sequence=AAA36730.1; Type=Erroneous initiation; Sequence=CAE77681.1; Type=Erroneous initiation;
Secondary accessions: Q709B3 Q7Z6P9 Q9BRJ5 Q9UJD8
Alternative splicing: 2 isoforms:  P19484-1   P19484-2   

Explore the universe of human proteins at neXtProt for TFEB: NX_P19484

Explore proteomics data for TFEB at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated; does not affect dimerization with MITF
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19484

  • TFEB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TFEB Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001161299.2  NP_001258872.1  NP_001258873.1  NP_001258874.1  NP_009093.1  

    ENSEMBL proteins: 
     ENSP00000383998   ENSP00000343948   ENSP00000230323   ENSP00000351742   ENSP00000362124  
     ENSP00000377824   ENSP00000410391   ENSP00000406491   ENSP00000400276   ENSP00000396168  
     ENSP00000393874   ENSP00000415035   ENSP00000395208   ENSP00000415946   ENSP00000384203  
     ENSP00000412551  

    Human Recombinant Protein Products for TFEB: 
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    Novus Biologicals TFEB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TFEB 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS2115126
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IDA19556463

    TFEB for ontologies           About GeneDecksing



    TFEB Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    4 InterPro protein domains:
     IPR011598 bHLH_dom
     IPR024097 bHLH_ZIP_TF
     IPR024098 TFEB
     IPR021802 bHLH_ZIP_TF_MiT/TFE

    Graphical View of Domain Structure for InterPro Entry P19484

    ProtoNet protein and cluster: P19484

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    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
    Similarity: Belongs to the MiT/TFE family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    TFEB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TFEB_HUMAN, P19484
    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

         Genatlas biochemistry entry for TFEB:
    transcription factor EB,highly recognizing the EB box sequences in the heavy chain immunoglobulin enhancer,murine
    Tcfeb ortholog

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity NAS2115126
    GO:0044212transcription regulatory region DNA binding IDA19556463
    GO:0046982protein heterodimerization activity IEA--
    GO:0046983protein dimerization activity ----
         
    TFEB for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tfeb):
     embryogenesis  integument  mortality/aging  no phenotypic analysis  normal 
     pigmentation  skeleton  vision/eye 

    TFEB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tfebtm1Est for TFEB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TFEB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TFEB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFEB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TFEB 

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    SwitchGear 3'UTR luciferase reporter plasmidTFEB 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TFEB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptosis and Autophagy
    Apoptosis and Autophagy
    2Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for TFEB
        Apoptosis and Autophagy
    Translational Control



    TFEB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TFEB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/13 Interacting proteins for TFEB (P194843 ENSP000002303234) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    ENSG00000233911Q018603I2D: score=2 
    ENSG00000235068Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001892embryonic placenta development ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS2115126
    GO:0006914autophagy IEA--
    GO:0006959humoral immune response ISS--

    TFEB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TFEB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFEB

    1 Novoseek inferred chemical compound relationship for TFEB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 54.8 5 7727380 (3), 15118077 (1), 1748288 (1)

    Search CenterWatch for drugs/clinical trials and news about TFEB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TFEB gene (5 alternative transcripts): 
    NM_001167827.2  NM_001271943.1  NM_001271944.1  NM_001271945.1  NM_007162.2  

    Unigene Cluster for TFEB:

    Transcription factor EB
    Hs.485360  [show with all ESTs]
    Unigene Representative Sequence: AK095061
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406563 ENST00000343317(uc021yzl.1) ENST00000230323(uc003oqs.1)
    ENST00000358871(uc003oqr.1 uc003oqu.1) ENST00000373033(uc003oqt.1)
    ENST00000394283(uc003oqv.1 uc010jxo.1 uc003oqx.1 uc003oqz.1)
    ENST00000494822 ENST00000419396 ENST00000416140(uc003oqy.1) ENST00000419574(uc003oqw.1)
    ENST00000424495 ENST00000445214(uc010jxp.1) ENST00000425401 ENST00000445700
    ENST00000433032 ENST00000403298 ENST00000420312(uc010jxq.1)
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TFEB (see all 14):
    hsa-miR-1321 hsa-miR-520d-5p hsa-miR-128 hsa-miR-29c hsa-miR-29a hsa-miR-3681* hsa-miR-138-1* hsa-miR-124
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    Additional mRNA sequence: 

    AJ608786.1 AJ608787.1 AJ608788.1 AJ608789.1 AJ608790.1 AJ608791.2 AJ608793.1 AJ608794.1 
    AK095061.1 AK298390.1 AK310063.1 BC006225.2 BC032448.1 M33782.1 

    16 DOTS entries:

    DT.112337  DT.91856791  DT.100778646  DT.86841555  DT.40109916  DT.102830665  DT.100778644  DT.102830666 
    DT.100808882  DT.102830661  DT.100000651  DT.121304195  DT.97845067  DT.121304237  DT.121645419  DT.121645387 

    24/154 AceView cDNA sequences (see all 154):

    BQ049410 AL134660 BX108797 AJ608787 BM714352 BC032448 AW085757 AJ608791 
    BQ932979 CR595362 AJ608789 BE264787 BU540780 CK822476 R22427 AA814469 
    AA846032 BM055355 BM055249 AJ608788 BM476385 AJ608792 AI475796 BM504682 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFEB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGAGGGGT
    TFEB Expression
    About this image


    See TFEB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFEB

    SOURCE GeneReport for Unigene cluster: Hs.485360
        SABiosciences Custom PCR Arrays for TFEB
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TFEB gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfeb1 , 5 transcription factor EB1, 5 89.12(n)1
    93.68(a)1
      17 (23.99 cM)5
    214251  NM_011549.31  NP_035679.31 
     477370305 
    chicken
    (Gallus gallus)
    Aves TFEB1 transcription factor EB 79.12(n)
    80.44(a)
      419922  NM_001030922.1  NP_001026093.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFEB6
    Uncharacterized protein
    75(a)
    1 ↔ 1
    4(119633766-119656113)
    zebrafish
    (Danio rerio)
    Actinopterygii tfeb1 transcription factor EB 66.02(n)
    61.17(a)
      562289  XM_685686.3  XP_690778.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mitf6
    Mitf
    16(a)
    1 → many
    4(1219484-1228244)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-306
    Protein HLH-30, isoform b
    20(a)
    1 → many
    IV(4015486-4028129)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFEB gene
    MITF2  TFE32  TFEC2  
    4 SIMAP similar genes for TFEB using alignment to 13 protein entries:     TFEB_HUMAN (see all proteins):
    AlphaTFEB    TFEC    TFE3    MITF

    TFEB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1071 SNPs in TFEB are shown (see all 1071)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423457121,2
    --41617202(+) AGGCAG/TGAGCC 1 -- us2k10--------
    rs751017411,2
    C--41617244(+) ACACGA/CAGATC 1 -- us2k10--------
    rs1888321171,2
    --41617271(+) CTCGTA/GCCTGT 1 -- us2k10--------
    rs1915635821,2
    --41651221(+) AGCCCC/TTCAGT 5 -- int10--------
    rs775442731,2
    F--41651281(+) GCCCAG/ACTACA 5 -- int11Minor allele frequency- A:0.11WA 118
    rs603358021,2
    C,F--41651292(+) GCTTCT/GCAAGC 5 -- int12Minor allele frequency- G:0.21WA 120
    rs47145071,2
    C,F,A--41651307(+) TGGCCG/ACCCAC 5 -- int13Minor allele frequency- A:0.23WA NA EA 358
    rs1480928251,2
    --41651417(+) GGTTTA/GTGAGC 5 -- int10--------
    rs589263451,2
    C,F--41651431(+) CCTCTC/GGCCAC 5 -- int12Minor allele frequency- G:0.21WA 120
    rs94716251,2
    C,F,H--41651447(+) CTAGTC/GTCGCT 5 -- int112Minor allele frequency- G:0.25NS EA NA WA CSA 752

    HapMap Linkage Disequilibrium report for TFEB (41651716 - 41703997 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TFEB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv29515CNV Loss19812545
    nsv526309CNV Loss19592680
    dgv6837n71CNV Loss21882294
    nsv7893CNV Gain18304495
    dgv1943e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600744    OMIM disorders: --

    10 diseases for TFEB:    About MalaCards
    translocation renal cell carcinoma    pycnodysostosis    alveolar soft part sarcoma    angiomyolipoma
    microphthalmia    osteopetrosis    renal cell carcinoma    huntington's disease
    sarcoma    leukemia

    3 diseases from the University of Copenhagen DISEASES database for TFEB:
    Microphthalmia     Renal cell carcinoma     Alveolar soft part sarcoma

    TFEB for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for TFEB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 74 2 10707962 (1), 7479029 (1)
    carcinoma renal cell 68.4 3 15848741 (1), 15994295 (1)
    kidney tumor 52.3 4 15644781 (3)
    carcinoma 34.9 3 18344867 (2), 15848741 (1)
    tumors 19.2 6 15644781 (2), 15848741 (1), 12719541 (1), 19121090 (1) (see all 5)
    primary tumor 14.6 4 12719541 (1), 12837690 (1)

    Genetic Association Database (GAD): TFEB

    Export disorders for TFEB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TFEB gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with TFEB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A helix-loop-helix protein related to the immunoglobulin E box- binding proteins. (PubMed id 2115126)1, 2, 3, 9 Carr C.S. and Sharp P.A. (1990)
    2. A gene network regulating lysosomal biogenesis and function. (PubMed id 19556463)1, 2, 9 Sardiello M.... Ballabio A. (2009)
    3. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. (PubMed id 15118077)1, 2, 9 Kuiper R.P....Geurts van Kessel A. (2004)
    4. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PubMed id 18839057)1, 4 Lesch K.P....Jacob C. (2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. 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. (PubMed id 15644781)1, 9 Argani P....Ladanyi M. (2005)
    8. Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)- positive renal cell carcinomas due to promoter substitution. (PubMed id 12837690)1, 9 Kuiper R.P....Geurts van Kessel A. (2003)
    9. TFEB has DNA-binding and oligomerization properties of a unique helix-loop-helix/leucine-zipper family. (PubMed id 1748288)2, 9 Fisher D.E.... Sharp P.A. (1991)
    10. Cloning of an Alpha-TFEB fusion in renal tumors harbo ring the t(6;11)(p21;q13) chromosome translocation. (PubMed id 12719541)1, 9 Davis I.J....Fisher D.E. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7942 HGNC: 11753 AceView: TFEB Ensembl:ENSG00000112561 euGenes: HUgn7942
    ECgene: TFEB H-InvDB: TFEB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFEB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFEB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TFEB gene:
    Search GeneIP for patents involving TFEB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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