 |
 | Services
| |
 |
Aliases & Descriptions for TFE3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| OTTHUMP00000024272 2 | | RCCP2 2 | | TFEA 1, 2 | | bHLHe33 1, 2 |
| | | Descriptions |
|---|
| Renal cell carcinoma, papillary 2 | | Transcription factor for IgH enhancer 2 | | transcription factor E family, member A 2 | | transcription factor E3 2 | | transcription factor binding to IGHM enhancer 3 2 |
|
| | Search outside databases for aliases for TFE3 genePrevious GC identifers: GC0XM047669 GC0XM047127 GC0XM047912 GC0XM048642 |
Summaries for TFE3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for TFE3: TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991 [PubMed 1685140]).[supplied by OMIM] UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532Function: Positive-acting transcription factor that binds to the immunoglobulin enchancer MUE3 motif. It also binds very well to a USF/MLTF site. Binding of TFE3 to DNA induces DNA bindingGene Wiki entry for TFE3 |
Genomic Location for TFE3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the TFE3 gene 
Entrez Gene cytogenetic band: Xp11.22 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.22TFE3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM048771:
(about GC identifiers)
Start:
|
48,771,186 bp from pter |
End:
|
48,787,934 bp from pter |
Size:
|
16,749 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000023.9 NT_079573.3
| Proteins for TFE3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532 (See
protein sequence)Recommended Name: Transcription factor E3 Size: 575 amino acids; 61521 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus
Sequence caution: Sequence=CAA35714.1; Type=Frameshift; Positions=557; Sequence=CAA65800.1; Type=Erroneous gene model prediction;
Secondary accessions: A8MZL6 Q92757 Q92758 Q99964Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_006512.2
ENSEMBL proteins: ENSP00000338360 ENSP00000314129
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: TFE3 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for TFE3: Assays for TFE3: | Protein
Domains/ Families for TFE3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P19532
ProtoNet protein and cluster: P19532 1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH
UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532Similarity: Belongs to the MiT/TFE familySimilarity: Contains 1 basic helix-loop-helix (bHLH) domain | Gene Function for TFE3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006521
Applied Biosystems Silencer® siRNAs for TFE3
Sigma-Aldrich siRNA for TFE3  Sigma-Aldrich shRNA for TFE3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006521                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006521                                  untagged cDNA clones in CMV expression vector (see all 2): NM_006521 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006521
UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532Function: Positive-acting transcription factor that binds to the immunoglobulin enchancer MUE3 motif. It also binds very well to a USF/MLTF site. Binding of TFE3 to DNA induces DNA bindingGenatlas biochemistry entry for TFE3:transcription factor,binding IGH enhancer motif muE3 (see also RCCPX)8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tcfe3):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for TFE3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for TFE3 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for TFE3 
5/36 Interacting proteins for TFE3 (P195321 ENSP000003383603) via UniProtKB, MINT, and/or STRING (see all 36
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045670 | regulation of osteoclast differentiation |
IEA | -- | | GO:0045893 | positive regulation of transcription, DNA-dependent |
IEA | -- | About this table
|
Drugs & Compounds for TFE3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for TFE3 3 Novoseek chemical compound relationships for TFE3 gene
About this table
|
Transcripts for TFE3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006521
Sigma-Aldrich siRNA for TFE3  Sigma-Aldrich shRNA for TFE3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_006521 REFSEQ mRNAs for TFE3 gene: NM_006521.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006521               OriGene GFP tagged cDNA clone in CMV expression vector: NM_006521                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006521                                  untagged cDNA clones in CMV expression vector (see all 2): NM_006521  Additional cDNA sequence: AK055522.1 AK295497.1 AK310095.1 AK313540.1 AY034077.1 AY034078.1 AY927577.1 BC001532.2 BC026027.1 CR618971.1 X51330.1 X96717.1 19 DOTS entries: DT.97844778 DT.316351 DT.100054917 DT.97782045 DT.92435228 DT.91990780 DT.100773318 DT.95241255 DT.91912712 DT.99987720 DT.91807827 DT.92435223 DT.121313899 DT.121313972 DT.91751874 DT.91976715 DT.92435220 DT.97767457 DT.92435221 24/193 AceView cDNA sequences (see all 193
):BI906752 BM476345 BQ679200 AL161985 AI366901 CR618971 BC026027 BQ951491 BE396479 BX098888 AI049882 AI620369 BX380994 BE904541 BU632914 AI659215 CO249977 R30674 AL040493 BQ029594 AU124359 BQ949183 BE819496 BC001532
highest scoring ESTs for TFE3:X96717 AL538216 BC026027 BE304385 BE387336 BF984983 BG333988 BM904206 BQ228525 BQ881401 Unigene Cluster for TFE3: Transcription factor binding to IGHM enhancer 3 Hs.274184 [show with all ESTs]Unigene Representative Sequence: NM_006521
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TFE3 (see all 8
)
| 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: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for TFE3
2 Ensembl transcripts including schematic representations: ENST00000336239
ENST00000315869
|
Expression for TFE3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| TFE3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for TFE3
1 / 2 / 3 6 probe-sets matching TFE3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAGGGTATAC
SOURCE GeneReport for Unigene cluster: Hs.274184
Expression variation in blood from EXPOLDB for TFE3 UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532Tissue specificity: Ubiquitous in fetal and adult tissues |
Orthologs for TFE3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for TFE3 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for TFE3
ENSEMBL Gene Tree for TFE3 | Paralogs for TFE3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for TFE3 gene
- MITF2 TFEC2 TFEB2
|
SNPs/Variants for TFE3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for TFE3 (up to first 250kb)
|
Disorders & Mutations for TFE3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 314310 disorders: 605074 UniProtKB/Swiss-Prot: TFE3_HUMAN, P19532
Chromosomal aberrations involving TFE3 are recurrent in alveolar soft part sarcoma (ASPS) [MIM:606243]. Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein Chromosomal aberrations involving TFE3 may be a cause of papillary renal cell carcinoma (PRCC) [MIM:605074]. 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 Chromosomal aberrations involving TFE3 are recurrent in alveolar soft part sarcoma (ASPS). Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein10 Novoseek disease relationships for TFE3 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sarcoma alveolar soft part |
85.78 |
11 |
12766578 (2), 18176180 (1), 12719541 (1), 12769020 (1) (see all 6) |
| carcinoma renal cell |
77.01 |
37 |
12766578 (5), 12902986 (3), 11313942 (2), 17905124 (2) (see all 18) |
| microphthalmia |
66.52 |
4 |
10707962 (2), 16327428 (1), 7479029 (1) |
| wiskott-aldrich syndrome |
42.00 |
2 |
8666400 (1), 8104859 (1) |
| carcinoma |
37.79 |
14 |
18344867 (3), 15316311 (3), 15848741 (1), 17478783 (1) (see all 6) |
| tumors |
35.58 |
28 |
12766578 (4), 15316311 (2), 15848741 (1), 17580272 (1) (see all 16) |
| sarcoma |
33.99 |
4 |
18176180 (1), 11244503 (1) |
| metastasis |
22.73 |
2 |
12769020 (1), 17121199 (1) |
| cancer |
0.00 |
2 |
11717438 (1), 16737956 (1) |
| leukemia |
0.00 |
2 |
15994295 (2) |
About this table
|
Medical News for TFE3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for TFE3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/112 PubMed articles for TFE3 gene (see all 112
):- 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, 3, 4 Ladanyi M.... Bridge J. (2001)
- The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. (PubMed id 1685140)1, 2, 3 Henthorn P.S....Puck J.M. (1991)
- Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. (PubMed id 9393982)1, 3, 4 Clark J.... Cooper C.S. (1997)
- TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif. (PubMed id 2338243)1, 3, 4 Beckmann H.... Kadesch T. (1990)
- 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, 3, 4 Heimann P....Vassart G. (2001)
- 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, 3, 4 Sidhar S.K.... Cooper C.S. (1996)
- 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)3, 4 Weterman M.A.J.... Geurts van Kessel A. (1996)
- A high-frequency RFLP at the human TFE3 locus on the X chromosome. (PubMed id 1672758)2, 3 Puck J.M....Henthorn P.S. (1991)
- 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, 3 Nijman S.M....Bernards R. (2006)
- Synergistic cooperation of TFE3 and smad proteins in TGF-beta-induced transcription of the plasminogen activator inhibitor-1 gene. (PubMed id 9765209)1, 3 Hua X....Lodish H.F. (1998)
|
Search for TFE3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TFE3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing TFE3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TFE3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for TFE3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for TFE3:

 | |
 | | | | |
|
 |  |  |
| | Recombinant Proteins (TFE3) | | Antibodies (TFE3) |
| | | Search Tocris compounds for TFE3 |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|