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TFE3 Gene

protein-coding   GIFtS: 59
GCID: GC0XM048886

Transcription Factor Binding To IGHM Enhancer 3

  See TFE3-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 Binding To IGHM Enhancer 31 2     TFEA2
Class E Basic Helix-Loop-Helix Protein 332 3     Transcription Factor E Family, Member A2
bHLHe332 3     Transcription Factor E32
RCCX12 5     Transcription Factor For IgH Enhancer2
Member A1     Transcription Factor For Immunoglobulin Heavy-Chain Enhancer 32
Transcription Factor E Family1     BHLHE333
RCCP22     

External Ids:    HGNC: 117521   Entrez Gene: 70302   Ensembl: ENSG000000683237   OMIM: 3143105   UniProtKB: P195323   

Export aliases for TFE3 gene to outside databases

Previous GC identifers: GC0XM047669 GC0XM047127 GC0XM047912 GC0XM048642 GC0XM048771 GC0XM046545


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TFE3 Gene:
This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box
sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of
transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in
renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners
include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1
(alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for TFE3 Gene:
TFE3 (transcription factor binding to IGHM enhancer 3) is a protein-coding gene. Diseases associated with TFE3 include renal cell carcinoma, papillary, 1, and alveolar soft part sarcoma. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MITF.

UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532
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 TFEB or MITF. In
association with TFEB, 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 the
MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site

Gene Wiki entry for TFE3 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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Regulatory elements:
   Regulatory transcription factor binding sites in the TFE3 gene promoter:
         Max1   MAZR   HOXA3   p53   AP-1   ATF-2   Max   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTFE3 promoter sequence
   Search Chromatin IP Primers for TFE3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TFE3


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

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.22

TFE3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFE3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048886:  view genomic region     (about GC identifiers)

Start:
48,886,242 bp from pter      End:
48,901,012 bp from pter
Size:
14,771 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: TFE3_HUMAN, P19532 (See protein sequence)
Recommended Name: Transcription factor E3  
Size: 575 amino acids; 61521 Da
Subunit: Homodimer and heterodimer; with TFEB or MITF
Sequence caution: Sequence=CAA35714.1; Type=Frameshift; Positions=557; Sequence=CAA65800.1; Type=Erroneous gene
model prediction;
Secondary accessions: A8MZL6 Q92757 Q92758 Q99964

Explore the universe of human proteins at neXtProt for TFE3: NX_P19532

Explore proteomics data for TFE3 at MOPED

Post-translational modifications: 

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

  • See TFE3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269071.1  NP_006512.2  

    ENSEMBL proteins: 
     ENSP00000476976   ENSP00000314129  

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    antibodies-online proteins for TFE3 (5 products) 

     
    antibodies-online peptides for TFE3

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    (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:
     IPR024100 TFE3
     IPR011598 bHLH_dom
     IPR024097 bHLH_ZIP_TF
     IPR021802 bHLH_ZIP_TF_MiT/TFE

    Graphical View of Domain Structure for InterPro Entry P19532

    ProtoNet protein and cluster: P19532

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

    UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532
    Similarity: Belongs to the MiT/TFE family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with TFE3           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: TFE3_HUMAN, P19532
    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 TFEB or MITF. In
    association with TFEB, 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 the
    MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site

         Genatlas biochemistry entry for TFE3:
    transcription factor,binding IGH enhancer motif muE3 (see also RCCPX)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0044212transcription regulatory region DNA binding ISS--
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with TFE3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for TFE3:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased p24 protein expressi 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tfe3):
     craniofacial  growth/size/body  hematopoietic system  immune system  integument 
     mortality/aging  normal  pigmentation  skeleton  vision/eye 

    Find genes that share phenotypes with TFE3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tfe3tm1Est for TFE3

       genOway: Develop your customized and physiologically relevant rodent model for TFE3

    miRNA
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    miRTarBase miRNAs that target TFE3:
    hsa-mir-455-3p (MIRT037852), hsa-mir-335-5p (MIRT017158)

    Block miRNA regulation of human, mouse, rat TFE3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TFE3 (see all 29):
    hsa-miR-345 hsa-miR-3673 hsa-miR-502-5p hsa-miR-1914* hsa-miR-609 hsa-miR-1262 hsa-miR-27b* hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidTFE3 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for TFE3 

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    (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
    TFE3_HUMAN, P19532: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with TFE3           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 TFE3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    3Regulation of nuclear SMAD2/3 signaling
    Regulation of nuclear SMAD2/3 signaling
    4E2F transcription factor network
    E2F transcription factor network


    Find genes that share SuperPaths with TFE3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for TFE3
        TGF Beta Signaling Pathway
    E2F transcription factor network
    Regulation of nuclear SMAD2/3 signaling


    1 Kegg Pathway  (Kegg details for TFE3):
        Transcriptional misregulation in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFE3
    Interactions:

        GeneGlobe Interaction Network for TFE3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TFE3 (P195323 ENSP000003141294) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    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 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006959humoral immune response ISS--
    GO:0045670regulation of osteoclast differentiation IEA--
    GO:0045785positive regulation of cell adhesion IMP--

    Find genes that share ontologies with TFE3           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 TFE3

    3 Novoseek inferred chemical compound relationships for TFE3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 57.4 9 2044953 (2), 11467950 (1), 9699482 (1), 12719541 (1) (see all 8)
    proline 2.66 1 7479029 (1)
    glucose 0 2 9699482 (1)



    Find genes that share compounds with TFE3           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 TFE3 gene (2 alternative transcripts): 
    NM_001282142.1  NM_006521.5  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493583 ENST00000315869(uc004dmb.3 uc004dmc.3 uc004dme.1)
    ENST00000495940 ENST00000487451 ENST00000481606
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TFE3 (see all 29):
    hsa-miR-345 hsa-miR-3673 hsa-miR-502-5p hsa-miR-1914* hsa-miR-609 hsa-miR-1262 hsa-miR-27b* hsa-miR-877*
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    Selected AceView cDNA sequences (see all 193):

    BE396479 CO249977 BQ029594 BE904541 BM470445 AU124359 CB240745 BC001532 
    BX098888 CR618971 BQ679200 AL161985 BM476345 AL040493 BE819496 NM_006521 
    BC026027 BQ227804 AI620369 BQ951491 AW244050 AI659215 BM555977 AI366901 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TFE3 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                    -                                                                                                               
    SP2:                    -                 -     -                                                                                       
    SP3:                    -                 -     -                                                                                       
    SP4:                    -                 -                                                                                             
    SP5:                                      -     -                                                                                       


    ECgene alternative splicing isoforms for TFE3

    (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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    TFE3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGTATAC
    TFE3 Expression
    About this image


    TFE3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TFE3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFE3 Protein Expression

    UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532
    Tissue specificity: Ubiquitous in fetal and adult tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFE3

    (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 TFE3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfe31 , 5 transcription factor E31, 5 89.8(n)1
    96.33(a)1
      X (3.50 cM)5
    2094461  NM_172472.31  NP_766060.21 
     77625605 
    lizard
    (Anolis carolinensis)
    Reptilia TFE36
    transcription factor binding to IGHM enhancer 3
    65(a)
    1 ↔ 1
    GL343326.1(959004-982604)
    zebrafish
    (Danio rerio)
    Actinopterygii tfe3a2 transcription factor binding to IGHM enhancer 3a 75.03(n)   114834  AF362684.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mitf6
    Mitf
    21(a)
    1 → many
    4(1219484-1228244)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-306
    Protein HLH-30, isoform g
    25(a)
    1 → many
    IV(4014799-4028127) WBGene00020930


    ENSEMBL Gene Tree for TFE3 (if available)
    TreeFam Gene Tree for TFE3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TFE3 gene
    MITF2  TFEC2  TFEB2  
    3 SIMAP similar genes for TFE3 using alignment to 1 protein entry:     TFE3_HUMAN:
    MITF    TFEC    TFEB

    Find genes that share paralogs with TFE3           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 TFE3 (see all 250)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30274741,2
    C,F,H--48805441(-) AAAAAT/AGCCAC 1 -- ds50014Minor allele frequency- A:0.01NS EA 418
    rs1913241261,2
    --48805475(+) CTTTAC/TTGTTT 1 -- ds50010--------
    rs1411523931,2
    --48805530(+) CAATTA/CTATTC 1 -- ds50010--------
    rs1469359401,2
    C--48805571(+) AGAAGC/GAGCAT 1 -- ds50010--------
    rs30274731,2
    C,F,H--48805684(-) AAGACA/TATATG 1 -- ds500111Minor allele frequency- T:0.19NS EA NA WA 1354
    rs1830231611,2
    --48805904(+) CCTCCA/CTGGGG 1 -- ut310--------
    rs1873130341,2
    C--48805912(+) GGGCCC/TGGCCC 1 -- ut310--------
    rs1921331711,2
    --48805971(+) TGGAGC/GGGGGA 1 -- ut310--------
    rs1846342491,2
    --48806068(+) GTATGC/TGGAGC 1 -- ut310--------
    rs1420721341,2
    --48806072(+) GCGGAA/GCAATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TFE3 (48886242 - 48901012 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TFE3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Locus Specific Mutation Databases (LSDB): TFE3

    Site Specific Mutation Identification with PCR Assays
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    (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: 314310   
    OMIM disorders: 300854  
    UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532
  • Note=A chromosomal aberration involving TFE3 is found in patients with alveolar soft part sarcoma.
    Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein
  • Note=Chromosomal aberrations involving TFE3 are found in patients with papillary renal cell carcinoma.
    Translocation t(X;1)(p11.2;q21.2) with PRCC; translocation t(X;1)(p11.2;p34) with PSF; inversion
    inv(X)(p11.2;q12) that fuses NONO to TFE3

  • 15 diseases for TFE3:    
    About MalaCards
    renal cell carcinoma, papillary, 1    alveolar soft part sarcoma    papillary renal carcinoma    pyridoxine-responsive sideroblastic anemia
    waardenburg syndrome type 2a    multilocular cystic renal cell carcinoma    clear cell papillary renal cell carcinoma    oxyphilic adenoma
    pycnodysostosis    waardenburg syndrome type 2    papillary renal cell carcinoma    x-linked sideroblastic anemia
    renal cell carcinoma    mesoblastic nephroma    epithelioid hemangioendothelioma

    6 diseases from the University of Copenhagen DISEASES database for TFE3:
    Alveolar soft part sarcoma     Renal cell carcinoma     Perivascular epithelioid cell tumor     Microphthalmia
    pyridoxine-responsive sideroblastic anemia     Oxyphilic adenoma

    Find genes that share disorders with TFE3           About GenesLikeMe

    10 Novoseek inferred disease relationships for TFE3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcoma alveolar soft part 90.1 11 12766578 (2), 18176180 (1), 12719541 (1), 12769020 (1) (see all 6)
    carcinoma renal cell 78.8 38 12766578 (5), 12902986 (3), 11313942 (2), 15992428 (2) (see all 19)
    microphthalmia 64.6 4 10707962 (2), 16327428 (1), 7479029 (1)
    tumors 40.8 35 12766578 (4), 19606011 (2), 20014561 (2), 15316311 (2) (see all 20)
    wiskott-aldrich syndrome 39.6 2 8666400 (1), 8104859 (1)
    carcinoma 37.2 14 18344867 (3), 15316311 (3), 15848741 (1), 17478783 (1) (see all 6)
    sarcoma 35.9 4 18176180 (1), 11244503 (1)
    metastasis 24.6 2 12769020 (1), 17121199 (1)
    leukemia 0 2 15994295 (2)
    cancer 0 3 11717438 (1), 16737956 (1), 20438411 (1)

    Genetic Association Database (GAD): TFE3
    Human Genome Epidemiology (HuGE) Navigator: TFE3 (1 document)

    Export disorders for TFE3 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 TFE3 gene, integrated from 10 sources (see all 163):
    (articles sorted by number of sources associating them with TFE3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. (PubMed id 11244503)1, 2, 9 Ladanyi M.... Bridge J. (Oncogene 2001)
    2. The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. (PubMed id 1685140)1, 3, 9 Henthorn P.S....Puck J.M. (Genomics 1991)
    3. Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. (PubMed id 9393982)1, 2, 9 Clark J.... Cooper C.S. (Oncogene 1997)
    4. TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif. (PubMed id 2338243)1, 2, 9 Beckmann H.... Kadesch T. (Genes Dev. 1990)
    5. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. (PubMed id 11358836)1, 2, 9 Heimann P....Vassart G. (Cancer Res. 2001)
    6. The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. (PubMed id 8872474)1, 2, 9 Sidhar S.K.... Cooper C.S. (Hum. Mol. Genet. 1996)
    7. Sumoylation of MITF and its related family members TFE3 and TFEB. (PubMed id 15507434)1, 2 Miller A.J.... Fisher D.E. (J. Biol. Chem. 2005)
    8. Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. (PubMed id 8986805)1, 2 Weterman M.A.J.... Geurts van Kessel A. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    9. A high-frequency RFLP at the human TFE3 locus on the X chromosome. (PubMed id 1672758)1, 3 Puck J.M....Henthorn P.S. (Nucleic Acids Res. 1991)
    10. A functional genetic screen identifies TFE3 as a gene that confers resistance to the anti-proliferative effects of the retinoblastoma protein and transforming growth factor-beta. (PubMed id 16737956)1, 9 Nijman S.M....Bernards R. (J. Biol. Chem. 2006)

    (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: 7030 HGNC: 11752 AceView: TFE3 Ensembl:ENSG00000068323 euGenes: HUgn7030
    ECgene: TFE3 Kegg: 7030 H-InvDB: TFE3

    (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 TFE3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFE3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TFE3 gene:
    Search GeneIP for patents involving TFE3

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



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