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TFEB Gene

protein-coding   GIFtS: 54
GCID: GC06M041651

Transcription Factor EB

  See TFEB-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TFEB Gene:
TFEB (transcription factor EB) is a protein-coding gene. Diseases associated with TFEB include renal cell carcinoma, papillary, 1, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for TFEB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Sumoylated; does not affect dimerization with MITF1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TFEB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    TFEB Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TFEB

     
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    antibodies-online proteins for TFEB (5 products) 

     
    antibodies-online peptides for TFEB

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    antibodies-online antibodies for TFEB (98 products) 

    TFEB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TFEB
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TFEB
    Cloud-Clone Corp. CLIAs for TFEB
    Search eBioscience for ELISAs for TFEB 
    antibodies-online kits for TFEB (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with TFEB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 ----
         
    Find genes that share ontologies with TFEB           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tfeb):
     embryogenesis  integument  mortality/aging  no phenotypic analysis  normal 
     pigmentation  skeleton  vision/eye 

    Find genes that share phenotypes with TFEB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tfebtm1Est for TFEB

       genOway: Develop your customized and physiologically relevant rodent model for TFEB

    miRNA
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    miRTarBase miRNAs that target TFEB:
    hsa-mir-26b-5p (MIRT030033), hsa-mir-124-3p (MIRT023048)

    Block miRNA regulation of human, mouse, rat TFEB using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidTFEB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TFEB

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFEB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFEB
    Addgene plasmids for TFEB 

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TFEB_HUMAN, P19484: 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: 

    CompartmentConfidence
    nucleus5
    cytosol2
    lysosome2
    vacuole2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with TFEB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TFEB About    
    See pathways by source

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


    Find genes that share SuperPaths with TFEB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFEB
    Interactions:

        Search GeneGlobe Interaction Network for TFEB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for TFEB (P194843 ENSP000002303234) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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): Selected biological process terms (see all 9):    About this table

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

    Find genes that share ontologies with TFEB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with TFEB           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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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      QuantiTect SYBR Green Assays in human, mouse, rat TFEB
      QuantiFast Probe-based Assays in human, mouse, rat TFEB

    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 

    Selected AceView cDNA sequences (see all 154):

    NM_007162 AW403857 AW085757 AJ608786 CK822476 AL134660 BM504682 AI475796 
    BU540780 AJ608792 AA814469 AA846032 BM476385 BE253794 CR614783 AJ608791 
    F10025 BC032448 BF513669 AA235980 BM055249 BQ049410 BX108797 BM714352 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    TFEB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFEB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485360
        Custom PCR Arrays for TFEB
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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TFEB gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfeb1 , 5 transcription factor EB1, 5 88.8(n)1
    93.15(a)1
      17 (23.99 cM)5
    214251  NM_011549.31  NP_035679.31 
     477370305 
    chicken
    (Gallus gallus)
    Aves TFEB1 transcription factor EB 79.05(n)
    80.44(a)
      419922  NM_001030922.1  NP_001026093.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFEB6
    transcription factor EB
    75(a)
    1 ↔ 1
    4(119633766-119656113)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tfeb1 transcription factor EB 66.27(n)
    68.84(a)
      780105  NM_001079180.1  NP_001072648.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tfeb1 transcription factor EB 64.65(n)
    60.04(a)
      562289  NM_001257192.1  NP_001244121.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mitf6
    Mitf
    18(a)
    1 → many
    4(1219484-1228244)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-306
    Protein HLH-30, isoform g
    24(a)
    1 → many
    IV(4014799-4028127) WBGene00020930


    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)
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    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

    Find genes that share paralogs with TFEB           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TFEB (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFEB
    DNA2.0 Custom Variant and Variant Library Synthesis for TFEB

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

    2 diseases for TFEB:    
    About MalaCards
    renal cell carcinoma, papillary, 1    pycnodysostosis

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

    Find genes that share disorders with TFEB           About GenesLikeMe

    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)
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    PubMed articles for TFEB gene, integrated from 10 sources (see all 56):
    (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. (Mol. Cell. Biol. 1990)
    2. A gene network regulating lysosomal biogenesis and function. (PubMed id 19556463)1, 2, 9 Sardiello M.... Ballabio A. (Science 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. (Nucleic Acids Res. 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. (J Neural Transm 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. (Genome Res. 2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 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. (Am. J. Surg. Pathol. 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. (Hum. Mol. Genet. 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. (Genes Dev. 1991)
    10. Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation. (PubMed id 12719541)1, 9 Davis I.J....Fisher D.E. (Proc. Natl. Acad. Sci. U.S.A. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7942 HGNC: 11753 AceView: TFEB Ensembl:ENSG00000112561 euGenes: HUgn7942
    ECgene: TFEB H-InvDB: TFEB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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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