ID:TFE2_HUMAN DESCRIPTION: RecName: Full=Transcription factor E2-alpha; AltName: Full=Class B basic helix-loop-helix protein 21; Short=bHLHb21; AltName: Full=Immunoglobulin enhancer-binding factor E12/E47; AltName: Full=Immunoglobulin transcription factor 1; AltName: Full=Kappa-E2-binding factor; AltName: Full=Transcription factor 3; Short=TCF-3; AltName: Full=Transcription factor ITF-1; FUNCTION: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue- specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E- box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region. SUBUNIT: Forms a heterodimer with ASH1 and TWIST2. Isoform E12 interacts with RALGAPA1 and FIGLA. Efficient DNA binding requires dimerization with another bHLH protein. Component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3. Interacts with NEUROD2, PTF1A and TGFB1I1 (By similarity). Homodimer. Heterodimer. Forms a heterodimer with NEUROD1; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E- box element. Interacts with EP300 and UBE2I. INTERACTION: P50553:ASCL1; NbExp=3; IntAct=EBI-769630, EBI-957042; O95273:CCNDBP1; NbExp=3; IntAct=EBI-769645, EBI-748961; Q02363:ID2; NbExp=3; IntAct=EBI-769645, EBI-713450; P15172:MYOD1; NbExp=2; IntAct=EBI-769645, EBI-488878; P17542:TAL1; NbExp=4; IntAct=EBI-769630, EBI-1753878; SUBCELLULAR LOCATION: Nucleus. DOMAIN: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. PTM: Phosphorylated following NGF stimulation (By similarity). DISEASE: Note=Chromosomal aberrations involving TCF3 are cause of forms of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with PBX1. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family. Translocation t(17;19)(q22;p13.3) with HLF. Inversion inv(19)(p13;q13) with TFPT. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SEQUENCE CAUTION: Sequence=AAA52331.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/E2A.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15923
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0005515 protein binding GO:0008134 transcription factor binding GO:0031435 mitogen-activated protein kinase kinase kinase binding GO:0035326 enhancer binding GO:0042803 protein homodimerization activity GO:0043425 bHLH transcription factor binding GO:0046982 protein heterodimerization activity GO:0046983 protein dimerization activity GO:0070491 repressing transcription factor binding GO:0070644 vitamin D response element binding GO:0070888 E-box binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0002326 B cell lineage commitment GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007399 nervous system development GO:0030154 cell differentiation GO:0030183 B cell differentiation GO:0030890 positive regulation of B cell proliferation GO:0033152 immunoglobulin V(D)J recombination GO:0045666 positive regulation of neuron differentiation GO:0045787 positive regulation of cell cycle GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051149 positive regulation of muscle cell differentiation GO:1902036 regulation of hematopoietic stem cell differentiation GO:2000045 regulation of G1/S transition of mitotic cell cycle
LF385513 - JP 2014500723-A/193016: Polycomb-Associated Non-Coding RNAs. AK024806 - Homo sapiens cDNA: FLJ21153 fis, clone CAS09631, highly similar to HUMTFAA Human transcription factor (E2A) mRNA. BC005166 - Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47), mRNA (cDNA clone IMAGE:3534334), partial cds. BC014680 - Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47), mRNA (cDNA clone IMAGE:3864558), with apparent retained intron. BC011665 - Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47), mRNA (cDNA clone IMAGE:4110737), partial cds. LP895383 - Sequence 247 from Patent EP3253886. M31523 - Human transcription factor (E2A) mRNA, complete cds. JD056660 - Sequence 37684 from Patent EP1572962. JD246087 - Sequence 227111 from Patent EP1572962. JD401418 - Sequence 382442 from Patent EP1572962. JD360579 - Sequence 341603 from Patent EP1572962. JD385632 - Sequence 366656 from Patent EP1572962. X52078 - Human transcription factor (ITF-1) mRNA, 3' end. JD124094 - Sequence 105118 from Patent EP1572962. JD214439 - Sequence 195463 from Patent EP1572962. JD237351 - Sequence 218375 from Patent EP1572962. JD417237 - Sequence 398261 from Patent EP1572962. JD226178 - Sequence 207202 from Patent EP1572962. JD036997 - Sequence 18021 from Patent EP1572962. JD536951 - Sequence 517975 from Patent EP1572962. JD204098 - Sequence 185122 from Patent EP1572962. JD426001 - Sequence 407025 from Patent EP1572962. JD398100 - Sequence 379124 from Patent EP1572962. JD390584 - Sequence 371608 from Patent EP1572962. JD090402 - Sequence 71426 from Patent EP1572962. JD376226 - Sequence 357250 from Patent EP1572962. JD551503 - Sequence 532527 from Patent EP1572962. JD528784 - Sequence 509808 from Patent EP1572962. JD503576 - Sequence 484600 from Patent EP1572962. JD077756 - Sequence 58780 from Patent EP1572962. JD395984 - Sequence 377008 from Patent EP1572962. JD205848 - Sequence 186872 from Patent EP1572962. JD519795 - Sequence 500819 from Patent EP1572962. JD317995 - Sequence 299019 from Patent EP1572962. JD368963 - Sequence 349987 from Patent EP1572962. JD365131 - Sequence 346155 from Patent EP1572962. JD065698 - Sequence 46722 from Patent EP1572962. JD388736 - Sequence 369760 from Patent EP1572962. AK310998 - Homo sapiens cDNA, FLJ18040. JD325269 - Sequence 306293 from Patent EP1572962. JD231312 - Sequence 212336 from Patent EP1572962. JD080793 - Sequence 61817 from Patent EP1572962. JD126332 - Sequence 107356 from Patent EP1572962. JD384585 - Sequence 365609 from Patent EP1572962. JD219053 - Sequence 200077 from Patent EP1572962. JD502482 - Sequence 483506 from Patent EP1572962. M31222 - Human e12 protein (E2A) mRNA, complete cds. M65214 - Human (HeLa) helix-loop-helix protein HE47 (E2A) mRNA, 3' end. JD510113 - Sequence 491137 from Patent EP1572962. BC110579 - Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47), mRNA (cDNA clone MGC:129647 IMAGE:40007777), complete cds. BC110580 - Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47), mRNA (cDNA clone MGC:129648 IMAGE:40007779), complete cds. M24405 - Homo sapiens (clone E12) kappa-E2-binding factor mRNA, 3' end. KF303591 - Homo sapiens cell-line K562 transcription factor 3 variant 3 (TCF3) mRNA, complete cds. KJ905326 - Synthetic construct Homo sapiens clone ccsbBroadEn_14857 TCF3-like gene, encodes complete protein. AB385055 - Synthetic construct DNA, clone: pF1KB5152, Homo sapiens TCF3 gene for transcription factor E2-alpha, complete cds, without stop codon, in Flexi system. M24404 - Homo sapiens (clone E47) kappa-E2-binding factor mRNA, partial cds. AY311345 - Homo sapiens E2A/PBX1 fusion protein (E2A/PBX1 fusion) mRNA, partial cds; alternatively spliced. EU155120 - Homo sapiens p120-E2A fusion (NOL1-TCF3 fusion) mRNA, partial sequence. JD401067 - Sequence 382091 from Patent EP1572962. MA621090 - JP 2018138019-A/193016: Polycomb-Associated Non-Coding RNAs. MK158097 - Homo sapiens isolate 25595 E2A/HLF fusion protein mRNA, partial cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P15923 (Reactome details) participates in the following event(s):
R-HSA-448948 Phosphorylation of E proteins by p38 MAPK R-HSA-448962 Heterodimerization of E proteins with Myod R-HSA-448963 Interaction of MyoD:E protein with MEF2 R-HSA-8956568 RUNX1 binds the core TAL1 complex R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer R-HSA-375170 CDO in myogenesis R-HSA-525793 Myogenesis R-HSA-1266738 Developmental Biology R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
