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TFE3 Gene(Protein Coding)

Transcription Factor Binding To IGHM Enhancer 3

GCID:
GC0XM049028
GIFtS:
63
Genes Participants
UDN Logo

Aliases for TFE3 Gene

Aliases for TFE3 Gene

  • Transcription Factor Binding To IGHM Enhancer 3 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 33 3 4
  • BHLHe33 3 4
  • Transcription Factor For Immunoglobulin Heavy-Chain Enhancer 3 3
  • Transcription Factor E Family, Member A 3
  • Transcription Factor For IgH Enhancer 3
  • Transcription Factor E Family 2
  • Member A 2
  • RCCP2 3
  • RCCX1 3
  • TFEA 3

External Ids for TFE3 Gene

Previous GeneCards Identifiers for TFE3 Gene

  • GC0XM047669
  • GC0XM047127
  • GC0XM047912
  • GC0XM048642
  • GC0XM048771
  • GC0XM048886
  • GC0XM046545

Summaries for TFE3 Gene

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 Translocation Renal Cell Carcinoma and Alveolar Soft-Tissue Sarcoma. Among its related pathways are E2F transcription factor network and Regulation of nuclear SMAD2/3 signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is TFEC.

UniProtKB/Swiss-Prot for TFE3 Gene

  • Transcription factor that specifically recognizes and binds E-box sequences (5-CANNTG-3). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFE3 Gene

Genomics for TFE3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TFE3 Gene

Enhancers for TFE3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TFE3 on UCSC Golden Path with GeneCards custom track

Promoters for TFE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFE3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TFE3 gene promoter:

Genomic Location for TFE3 Gene

Chromosome:
X
Start:
49,028,726 bp from pter
End:
49,043,517 bp from pter
Size:
14,792 bases
Orientation:
Minus strand

Genomic View for TFE3 Gene

Genes around TFE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFE3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TFE3 Gene

Proteins for TFE3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TFE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19532-TFE3_HUMAN
    Recommended name:
    Transcription factor E3
    Protein Accession:
    P19532
    Secondary Accessions:
    • A8MZL6
    • Q5JU74
    • Q92757
    • Q92758
    • Q99964

    Protein attributes for TFE3 Gene

    Size:
    575 amino acids
    Molecular mass:
    61521 Da
    Quaternary structure:
    • Homodimer and heterodimer; with TFEB or MITF.
    SequenceCaution:
    • Sequence=CAA35714.1; Type=Frameshift; Positions=557; Evidence={ECO:0000305}; Sequence=CAA65800.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TFE3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFE3 Gene

Proteomics data for TFE3 Gene at MOPED

Protein Expression for TFE3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TFE3 Gene

Other Protein References for TFE3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TFE3 (TFE3)
  • Abcam antibodies for TFE3

No data available for DME Specific Peptides for TFE3 Gene

Domains & Families for TFE3 Gene

Gene Families for TFE3 Gene

HGNC:

Protein Domains for TFE3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TFE3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19532

UniProtKB/Swiss-Prot:

TFE3_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the MiT/TFE family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Family:
  • Belongs to the MiT/TFE family.
genes like me logo Genes that share domains with TFE3: view

Function for TFE3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for TFE3 Gene

GENATLAS Biochemistry:
transcription factor,binding IGH enhancer motif muE3 (see also RCCPX)
UniProtKB/Swiss-Prot Function:
Transcription factor that specifically recognizes and binds E-box sequences (5-CANNTG-3). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as 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 Ontology (GO) - Molecular Function for TFE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
genes like me logo Genes that share ontologies with TFE3: view

Phenotypes for TFE3 Gene

MGI mutant phenotypes for TFE3:
inferred from 1 alleles
GenomeRNAi human phenotypes for TFE3:
genes like me logo Genes that share phenotypes with TFE3: view

Human Phenotype Ontology for TFE3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFE3 Gene

MGI Knock Outs for TFE3:

Animal Model Products

CRISPR Products

miRNA for TFE3 Gene

miRTarBase miRNAs that target TFE3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TFE3 Gene

Localization for TFE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFE3 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFE3 Gene COMPARTMENTS Subcellular localization image for TFE3 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for TFE3 Gene

Pathways & Interactions for TFE3 Gene

genes like me logo Genes that share pathways with TFE3: view

Pathways by source for TFE3 Gene

1 KEGG pathway for TFE3 Gene

Gene Ontology (GO) - Biological Process for TFE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA,ISS --
genes like me logo Genes that share ontologies with TFE3: view

No data available for SIGNOR curated interactions for TFE3 Gene

Drugs & Compounds for TFE3 Gene

Products:

  1. Drug

(2) Drugs for TFE3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TFE3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFE3: view

Transcripts for TFE3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TFE3 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(193) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TFE3 Gene

Transcription factor binding to IGHM enhancer 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFE3 Gene

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: - -
SP6:
SP7:
SP8:

Relevant External Links for TFE3 Gene

GeneLoc Exon Structure for
TFE3
ECgene alternative splicing isoforms for
TFE3

Expression for TFE3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for TFE3 Gene

mRNA expression in normal human tissues for TFE3 Gene
mRNA expression by BioGPS for TFE3 GenemRNA expression by GTEx for TFE3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFE3 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for TFE3 Gene

This gene is overexpressed in Serum (31.7), Placenta (9.2), Urinary Bladder (8.0), and Rectum (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TFE3 Gene



SOURCE GeneReport for Unigene cluster for TFE3 Gene Hs.730740

mRNA Expression by UniProt/SwissProt for TFE3 Gene

P19532-TFE3_HUMAN
Tissue specificity: Ubiquitous in fetal and adult tissues.
genes like me logo Genes that share expression patterns with TFE3: view

Protein tissue co-expression partners for TFE3 Gene

Primer Products

Orthologs for TFE3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TFE3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia TFE3 35
  • 91.33 (n)
  • 95.11 (a)
TFE3 36
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TFE3 35
  • 92.64 (n)
  • 96.85 (a)
TFE3 36
  • 97 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tfe3 35
  • 89.8 (n)
  • 96.33 (a)
Tfe3 16
Tfe3 36
  • 96 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TFE3 35
  • 97.45 (n)
  • 96.5 (a)
TFE3 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tfe3 35
  • 89.65 (n)
  • 95.81 (a)
oppossum
(Monodelphis domestica)
 Mammalia TFE3 36
  • 67 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TFE3 36
  • 76 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TFE3 36
  • 65 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii tfe3a 35
tfe3b 35
  • 64.72 (n)
  • 64.72 (a)
tfe3a 36
  • 57 (a)
 OneToMany
tfe3b 36
  • 57 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Mitf 36
  • 21 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea hlh-30 36
  • 25 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 41 (a)
 OneToMany
Species with no ortholog for TFE3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TFE3 Gene

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

Paralogs for TFE3 Gene

Paralogs for TFE3 Gene

(3) SIMAP similar genes for TFE3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TFE3: view

Variants for TFE3 Gene

Sequence variations from dbSNP and Humsavar for TFE3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_027501 -
rs3027470 - 49,034,200(-) TGGCC(A/G)CACCA reference, missense
rs1047561 -- 49,030,524(-) ACTTC(A/G)GCTTC reference, synonymous-codon, missense
rs1047568 -- 49,029,269(-) TTCCA(G/T)ACCTA utr-variant-3-prime
rs1129572 -- 49,039,127(-) CTCAG(A/G)TGCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TFE3 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680

Variation tolerance for TFE3 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.07% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TFE3 Gene

Disorders for TFE3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for TFE3 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
translocation renal cell carcinoma
  • carcinoma associated with mitf/tfe translocation
alveolar soft-tissue sarcoma
  • alveolar soft-part sarcoma
renal cell carcinoma, papillary
  • renal cell carcinoma
epithelioid hemangioendothelioma
  • epithelioid hemangioendothelioma, malignant
alveolar soft-part sarcoma
  • alveolar soft part sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search TFE3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFE3_HUMAN
  • 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. {ECO:0000269 PubMed:11358836}.
  • 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. {ECO:0000269 PubMed:8872474, ECO:0000269 PubMed:8986805}.

Relevant External Links for TFE3

Genetic Association Database (GAD)
TFE3
Human Genome Epidemiology (HuGE) Navigator
TFE3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFE3
genes like me logo Genes that share disorders with TFE3: view

No data available for Genatlas for TFE3 Gene

Publications for TFE3 Gene

  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. (PMID: 11244503) Ladanyi M. … Bridge J. (Oncogene 2001) 3 4 23 67
  2. The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. (PMID: 1685140) Henthorn P.S. … Puck J.M. (Genomics 1991) 2 3 23
  3. The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay. (PMID: 19422821) Medendorp K. … van Kessel A.G. (Exp. Cell Res. 2009) 3 23
  4. Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. (PMID: 19788626) Kuroda N. … Lee G.H. (Pathol. Int. 2009) 3 23
  5. Imprint cytologic features in renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in an adult: a case report. (PMID: 20014561) Yamaguchi T. … Nakayama K. (Acta Cytol. 2009) 3 23

Products for TFE3 Gene

  • Addgene plasmids for TFE3

Sources for TFE3 Gene

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