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Aliases for TCF3 Gene

Aliases for TCF3 Gene

  • Transcription Factor 3 2 3 4 5
  • Immunoglobulin Transcription Factor 1 2 3 4
  • Kappa-E2-Binding Factor 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 21 3 4
  • Transcription Factor ITF-1 3 4
  • VDR Interacting Repressor 2 3
  • BHLHb21 3 4
  • TCF-3 3 4
  • ITF1 3 4
  • E2A 3 4
  • Transcription Factor 3 (E2A Immunoglobulin Enhancer Binding Factors E12/E47) 3
  • Negative Vitamin D Response Element-Binding Protein 3
  • E2A Immunoglobulin Enhancer-Binding Factor E12/E47 2
  • Immunoglobulin Enhancer-Binding Factor E12/E47 4
  • Vitamin D Receptor-Interacting Repressor 3
  • Transcription Factor 3 Variant 3 3
  • Transcription Factor E2-Alpha 2
  • Helix-Loop-Helix Protein HE47 3
  • NOL1-TCF3 Fusion 3
  • VDIR 3
  • E47 3

External Ids for TCF3 Gene

Previous GeneCards Identifiers for TCF3 Gene

  • GC19M001671
  • GC19M001549
  • GC19M001560
  • GC19M001384

Summaries for TCF3 Gene

Entrez Gene Summary for TCF3 Gene

  • This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]

GeneCards Summary for TCF3 Gene

TCF3 (Transcription Factor 3) is a Protein Coding gene. Diseases associated with TCF3 include Agammaglobulinemia, Non-Bruton Type and Precursor B-Cell Acute Lymphoblastic Leukemia. Among its related pathways are HTLV-I infection and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is TCF4.

UniProtKB/Swiss-Prot for TCF3 Gene

  • 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.

Gene Wiki entry for TCF3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF3 Gene

Genomics for TCF3 Gene

Regulatory Elements for TCF3 Gene

Enhancers for TCF3 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 TCF3 on UCSC Golden Path with GeneCards custom track

Promoters for TCF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TCF3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TCF3 gene promoter:

Genomic Location for TCF3 Gene

Chromosome:
19
Start:
1,609,290 bp from pter
End:
1,652,605 bp from pter
Size:
43,316 bases
Orientation:
Minus strand

Genomic View for TCF3 Gene

Genes around TCF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF3 Gene

Proteins for TCF3 Gene

  • Protein details for TCF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15923-TFE2_HUMAN
    Recommended name:
    Transcription factor E2-alpha
    Protein Accession:
    P15923
    Secondary Accessions:
    • P15883
    • Q14208
    • Q14635
    • Q14636
    • Q2TB39
    • Q2TB40
    • Q9UPI9

    Protein attributes for TCF3 Gene

    Size:
    654 amino acids
    Molecular mass:
    67600 Da
    Quaternary structure:
    • 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. Forms a heterodimer with MYOG; heterodimerization enhances MYOG DNA-binding and transcriptional activities (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. Interacts with BHLHA9 (PubMed:25466284). Forms a heterodimer with ATOH8; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters (By similarity).
    SequenceCaution:
    • Sequence=AAA52331.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TCF3 Gene

    Alternative splice isoforms for TCF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCF3 Gene

Proteomics data for TCF3 Gene at MOPED

Post-translational modifications for TCF3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TCF3 (E2A)

No data available for DME Specific Peptides for TCF3 Gene

Domains & Families for TCF3 Gene

Gene Families for TCF3 Gene

Protein Domains for TCF3 Gene

Suggested Antigen Peptide Sequences for TCF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15923

UniProtKB/Swiss-Prot:

TFE2_HUMAN :
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Domain:
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with TCF3: view

Function for TCF3 Gene

Molecular function for TCF3 Gene

GENATLAS Biochemistry:
transcription factor 3,heterodimerizing with all myogenic bHLH vproteins and binding DNA cooperatively with PBXs/MEISs/PKNOX1
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 14576336
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 2493990
GO:0005515 protein binding IPI 7568177
GO:0008134 transcription factor binding IPI 2503252
GO:0042803 protein homodimerization activity IDA 8759016
genes like me logo Genes that share ontologies with TCF3: view
genes like me logo Genes that share phenotypes with TCF3: view

Human Phenotype Ontology for TCF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCF3 Gene

MGI Knock Outs for TCF3:

Animal Model Products

Transcription Factor Targets for TCF3 Gene

Selected GeneGlobe predicted Target genes for TCF3
Targeted motifs for TCF3 Gene
HOMER Transcription Factor Regulatory Elements motif TCF3
  • Consensus sequence: ANACAGCTGC Submotif: canonical Cell Type: proBcell GEO ID: GSE21978

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) for TCF3 Gene

Localization for TCF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCF3 Gene COMPARTMENTS Subcellular localization image for TCF3 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IDA 10545951
genes like me logo Genes that share ontologies with TCF3: view

Pathways & Interactions for TCF3 Gene

genes like me logo Genes that share pathways with TCF3: view

SIGNOR curated interactions for TCF3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 14576336
GO:0002326 B cell lineage commitment NAS 12435739
GO:0030890 positive regulation of B cell proliferation IMP 11509675
GO:0033152 immunoglobulin V(D)J recombination IDA 16428437
GO:0045893 positive regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with TCF3: view

Drugs & Compounds for TCF3 Gene

No Compound Related Data Available

Transcripts for TCF3 Gene

Unigene Clusters for TCF3 Gene

Transcription factor 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TCF3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c · 18d ·
SP1: -
SP2:
SP3:
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 18e · 18f ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - -
SP9: -
SP10: - - -
SP11: - - - - - - - - - -
SP12: - - - - - - - - - - -
SP13: - - - - - -
SP14: - - - - - -
SP15: - - - - - - - - -
SP16: -
SP17: - -
SP18: - - - - -
SP19: - - -
SP20: - - - - - - -
SP21:

Relevant External Links for TCF3 Gene

GeneLoc Exon Structure for
TCF3
ECgene alternative splicing isoforms for
TCF3

Expression for TCF3 Gene

mRNA expression in normal human tissues for TCF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCF3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TCF3 Gene



SOURCE GeneReport for Unigene cluster for TCF3 Gene Hs.371282

genes like me logo Genes that share expression patterns with TCF3: view

Protein tissue co-expression partners for TCF3 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCF3 Gene

Orthologs for TCF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TCF3 35
  • 84.69 (n)
  • 84.95 (a)
TCF3 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCF3 35
  • 83.92 (n)
  • 81.48 (a)
TCF3 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tcf3 35
  • 79.9 (n)
  • 80.47 (a)
Tcf3 16
Tcf3 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TCF3 35
  • 98.64 (n)
  • 98.93 (a)
TCF3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tcf3 35
  • 79.19 (n)
  • 78.88 (a)
oppossum
(Monodelphis domestica)
Mammalia TCF3 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCF3 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCF3 35
  • 71.34 (n)
  • 71.5 (a)
TCF3 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCF3 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf3 35
  • 61.9 (n)
  • 63.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52608 35
zebrafish
(Danio rerio)
Actinopterygii e12 35
tcf3b 35
  • 61.29 (n)
  • 58.39 (a)
tcf3a 36
  • 49 (a)
OneToMany
tcf3b 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta da 37
  • 56 (a)
da 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-2 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for TCF3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TCF3 Gene

ENSEMBL:
Gene Tree for TCF3 (if available)
TreeFam:
Gene Tree for TCF3 (if available)

Paralogs for TCF3 Gene

Paralogs for TCF3 Gene

Pseudogenes.org Pseudogenes for TCF3 Gene

genes like me logo Genes that share paralogs with TCF3: view

Variants for TCF3 Gene

Sequence variations from dbSNP and Humsavar for TCF3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_036396 A colorectal cancer sample
rs35354874 - 1,627,366(-) CGGCC(C/T)GACTC nc-transcript-variant, reference, missense
rs11879402 - 1,622,373(+) GGCGG(C/T)GGCAT nc-transcript-variant, reference, missense
rs1052692 - 1,619,351(-) TCACC(A/G)GCCCC nc-transcript-variant, reference, missense
rs7256447 -- 1,642,222(+) cagac(A/G)cacag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCF3 Gene

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
nsv910499 CNV Loss 21882294
dgv3602n71 CNV Loss 21882294
dgv3603n71 CNV Loss 21882294
dgv3607n71 CNV Loss 21882294
dgv3608n71 CNV Loss 21882294
dgv3609n71 CNV Loss 21882294
dgv3610n71 CNV Loss 21882294
nsv910540 CNV Loss 21882294
dgv3611n71 CNV Loss 21882294
nsv828379 CNV Gain 20364138
esv2667087 CNV Deletion 23128226
esv28953 CNV Gain 19812545
nsv138347 CNV Loss 16902084
esv2717846 CNV Deletion 23290073
nsv828380 CNV Gain 20364138
esv2717847 CNV Deletion 23290073
esv2717848 CNV Deletion 23290073
esv2717849 CNV Deletion 23290073
nsv910543 CNV Loss 21882294
dgv3612n71 CNV Loss 21882294

Variation tolerance for TCF3 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCF3 Gene

Human Gene Mutation Database (HGMD)
TCF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF3 Gene

Disorders for TCF3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TCF3 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
precursor b-cell acute lymphoblastic leukemia
  • b-all
childhood leukemia
lymphoblastic leukemia
  • acute lymphocytic leukemia
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
- elite association - COSMIC cancer census association via MalaCards
Search TCF3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFE2_HUMAN
  • 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 (PubMed:1967983, PubMed:1671560). Translocation t(17;19)(q22;p13.3) with HLF (PubMed:1386162). Inversion inv(19)(p13;q13) with TFPT (PubMed:10086727). {ECO:0000269 PubMed:10086727, ECO:0000269 PubMed:1386162, ECO:0000269 PubMed:1671560, ECO:0000269 PubMed:1967983}.

Genatlas disease for TCF3 Gene

acute lymphoblastic leukemia,pre-B cell,with translocation t(1;19)(q23;p13);see PBX1

Relevant External Links for TCF3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCF3
genes like me logo Genes that share disorders with TCF3: view

Publications for TCF3 Gene

  1. Sequence of the cDNA encoding ITF-1, a positive-acting transcription factor. (PMID: 2308859) Henthorn P. … Kadesch T. (Nucleic Acids Res. 1990) 2 3 4 67
  2. Impact of female cigarette smoking on circulating B cells in vivo: the suppressed ICOSLG, TCF3, and VCAM1 gene functional network may inhibit normal cell function. (PMID: 20217071) Pan F. … Deng H.W. (Immunogenetics 2010) 3 23
  3. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia. (PMID: 17311319) Barber K.E. … Moorman A.V. (Genes Chromosomes Cancer 2007) 3 23
  4. A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with pbx-Meis1/Prep1. (PMID: 10471746) Knoepfler P.S. … Kamps M.P. (Nucleic Acids Res. 1999) 3 23
  5. A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. (PMID: 1967983) Kamps M.P. … Baltimore D. (Cell 1990) 2 3

Products for TCF3 Gene

Sources for TCF3 Gene

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