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TCF4 Gene

protein-coding   GIFtS: 67
GCID: GC18M052889

Transcription Factor 4

  See TCF4-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 41 2     SL3-3 Enhancer Factor 22 3
ITF22 3 5     PTHS2 5
SEF22 3 5     E2-22
Class B Basic Helix-Loop-Helix Protein 192 3     SEF2-12
Immunoglobulin Transcription Factor 22 3     SEF2-1A2
ITF-22 3     SEF2-1B2
SEF-22 3     SEF2-1D2
TCF-42 3     BHLHB193
bHLHb192 3     

External Ids:    HGNC: 116341   Entrez Gene: 69252   Ensembl: ENSG000001966287   OMIM: 6022725   UniProtKB: P158843   

Export aliases for TCF4 gene to outside databases

Previous GC identifers: GC18M052983 GC18M052797 GC18M052679 GC18M051043 GC18M051045 GC18M049599


(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 TCF4 Gene:
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein
recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin
enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects
in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode
different proteins have been described. (provided by RefSeq, Aug 2011)

GeneCards Summary for TCF4 Gene:
TCF4 (transcription factor 4) is a protein-coding gene. Diseases associated with TCF4 include pitt-hopkins syndrome, and primary sclerosing cholangitis. GO annotations related to this gene include protein C-terminus binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TCF12.

UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
Function: Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the
initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to
the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By
similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'

Gene Wiki entry for TCF4 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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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCF4 gene promoter:
         FOXD3   C/EBPalpha   E47   CREB   SRY   Nkx6-1   deltaCREB   POU2F1a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCF4 promoter sequence
   Search Chromatin IP Primers for TCF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCF4


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21.1

TCF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF4 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M052889:  view genomic region     (about GC identifiers)

Start:
52,889,562 bp from pter      End:
53,332,018 bp from pter
Size:
442,457 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884 (See protein sequence)
Recommended Name: Transcription factor 4  
Size: 667 amino acids; 71308 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers
with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1
Sequence caution: Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous
sequence; Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence;
1 PDB 3D structure from and Proteopedia for TCF4:
2KWF (3D)    
Secondary accessions: B3KT62 B3KUC0 B4DT37 B4DUG3 B7Z5M6 B7Z6Y1 G0LNT9 G0LNU0 G0LNU1 G0LNU2
G0LNU5 G0LNU8 G0LNU9 G0LNV0 G0LNV1 H3BPQ1 Q08AP2 Q08AP3 Q15439 Q15440 Q15441
Alternative splicing: 14 isoforms:  P15884-1   P15884-2   P15884-3   P15884-4   P15884-5   P15884-6   P15884-7   P15884-8   
P15884-9   P15884-10   P15884-11   P15884-12   P15884-13   P15884-14   

Explore the universe of human proteins at neXtProt for TCF4: NX_P15884

Explore proteomics data for TCF4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001077431.1  NP_001230155.2  NP_001230156.1  NP_001230157.1  NP_001230159.1  NP_001230160.1  NP_001230161.1  NP_001230162.1  
    NP_001230163.1  NP_001230164.1  NP_001230165.1  NP_003190.1  

    ENSEMBL proteins: 
     ENSP00000348374   ENSP00000455135   ENSP00000409447   ENSP00000439656   ENSP00000445202  
     ENSP00000440731   ENSP00000457649   ENSP00000455346   ENSP00000439827   ENSP00000441562  
     ENSP00000455179   ENSP00000457765   ENSP00000455984   ENSP00000455763   ENSP00000455261  
     ENSP00000454366   ENSP00000455418   ENSP00000456125   ENSP00000457263   ENSP00000381382  
     ENSP00000454647   ENSP00000468729   ENSP00000455304   ENSP00000456983   ENSP00000457392  
     ENSP00000455071   ENSP00000458122   ENSP00000456802   ENSP00000457245   ENSP00000454584  
     ENSP00000468277   ENSP00000456220   ENSP00000457113   ENSP00000455163   ENSP00000456917  
     ENSP00000457747   ENSP00000454328   ENSP00000455450   ENSP00000454866   ENSP00000454352  
     ENSP00000457082   ENSP00000454441   ENSP00000346440  
    Reactome Protein details: P15884

    TCF4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for OriGene Purified Proteins for TCF4 (NM_001083962  NM_003199  )
    OriGene Protein Over-expression Lysate for TCF4
    OriGene MassSpec for TCF4
    OriGene Custom Protein Services for TCF4
    GenScript Custom Purified and Recombinant Proteins Services for TCF4
    Novus Biologicals TCF4 Protein
    Novus Biologicals TCF4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TCF4 

    TCF4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TCF4
    Browse R&D Systems for Antibodies
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    Novus Biologicals TCF4 Antibodies
    Abcam antibodies for TCF4
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for TCF4
    LSBio Antibodies in human, mouse, rat for TCF4

    TCF4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TCF4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TCF4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for TCF4 


    (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

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry P15884

    ProtoNet protein and cluster: P15884

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

    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
    Domain: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription
    factors
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with TCF4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: ITF2_HUMAN, P15884
    Function: Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the
    initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to
    the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By
    similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'

         Genatlas biochemistry entry for TCF4:
    transcription factor 4,with several alternatively spliced isoforms

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS8978694
    GO:0001011sequence-specific DNA binding RNA polymerase recruiting transcription factor activity ISS8978694
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS8978694
    GO:0001087TFIIB-class binding transcription factor activity ISS8978694
    GO:0001093TFIIB-class transcription factor binding ISS8978694
         
    Find genes that share ontologies with TCF4           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TCF4:
     Increased cell death HMECs cel  Increased viability with TRAIL  Wnt reporter downregulated 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tcf4):
     cellular  craniofacial  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  skeleton 

    Find genes that share phenotypes with TCF4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TCF4: Tcf4tm1Zhu Tcf4tm1.1Hmb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCF4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TCF4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF4

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for TCF4 (see all 562):
    AASDH,  ABCA7,  ACR,  ACTBL2,  AFAP1L1,  AGAP4,  AGAP7,  AGAP8,  AGBL3,  AGBL4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF4:
    hsa-let-7e-5p (MIRT051694), hsa-mir-19b-3p (MIRT031229), hsa-mir-204-5p (MIRT005846), hsa-mir-130b-3p (MIRT020336)

    Block miRNA regulation of human, mouse, rat TCF4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF4 (see all 187):
    hsa-miR-193a-3p hsa-miR-106a hsa-miR-4305 hsa-miR-605 hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TCF4
    Predesigned siRNA for gene silencing in human, mouse, rat TCF4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TCF4

    Clone
    Products:
         
    OriGene clones in human, mouse for TCF4 (see all 11)
    OriGene ORF clones in mouse, rat for TCF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF4 (NM_001083962)
    Sino Biological Human cDNA Clone for TCF4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF4
    Addgene plasmids for TCF4 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TCF4
    Browse ESI BIO Cell Lines and PureStem Progenitors for TCF4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-11201) for TCF4 


    (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
    ITF2_HUMAN, P15884: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA1681116
    GO:0005667transcription factor complex ISS8978694

    Find genes that share ontologies with TCF4           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 TCF4 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    MAPK Signaling0.58
    ILK Signaling0.49
    Molecular Mechanisms of Cancer0.51
    2CDO in myogenesis
    CDO in myogenesis1.00
    Myogenesis1.00
    3Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    4L1CAM interactions
    Developmental Biology0.63
    5Non-Canonical Wnt Pathway
    Canonical Wnt Pathway0.53


    Find genes that share SuperPaths with TCF4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TCF4 (see all 10)
        MAPK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    5 BioSystems Pathways for TCF4
        Neural Crest Differentiation
    Wnt Signaling Pathway NetPath
    Corticotropin-releasing hormone
    Coregulation of Androgen receptor activity
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    1 Sino Biological Pathway for TCF4
        Canonical Wnt Pathway

    1 Reactome Pathway for TCF4
        CDO in myogenesis


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF4: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TCF4

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

    Selected Interacting proteins for TCF4 (P158841, 2, 3 ENSP000003464404) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-533224,EBI-491549 MINT-8399030 MINT-8398882 MINT-8398896 MINT-8398917 MINT-4508268 MINT-8398937 MINT-8398969 MINT-8398862 MINT-4508065 I2D: score=7 STRING: ENSP00000344456
    FERMT2Q96AC11, 2EBI-533224,EBI-4399465 MINT-8398937 MINT-8399030 MINT-8398862 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398954
    ASCL1P505531, 3, ENSP000002667444EBI-533224,EBI-957042 I2D: score=4 STRING: ENSP00000266744
    DAXXQ9UER73, ENSP000002660004I2D: score=2 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006352DNA-templated transcription, initiation ISS8978694
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter ISS8978694
    GO:0045666positive regulation of neuron differentiation ISS--

    Find genes that share ontologies with TCF4           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 TCF4 (ITF2)

    2 Novoseek inferred chemical compound relationships for TCF4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 48.4 3 10918391 (2)
    glycogen 32 2 12603528 (1), 14687479 (1)



    Find genes that share compounds with TCF4           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 TCF4 gene (12 alternative transcripts): 
    NM_001083962.1  NM_001243226.2  NM_001243227.1  NM_001243228.1  NM_001243230.1  NM_001243231.1  NM_001243232.1  NM_001243233.1  
    NM_001243234.1  NM_001243235.1  NM_001243236.1  NM_003199.2  

    Unigene Cluster for TCF4:

    Transcription factor 4
    Hs.605153  [show with all ESTs]
    Unigene Representative Sequence: NM_001083962
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 48):
    ENST00000356073 ENST00000568673 ENST00000457482 ENST00000543082 ENST00000540999
    ENST00000537578 ENST00000564999 ENST00000568740 ENST00000562680 ENST00000537856
    ENST00000544241 ENST00000561992 ENST00000561831 ENST00000565018 ENST00000570287
    ENST00000564228 ENST00000567880 ENST00000566286
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TCF4 (see all 187):
    hsa-miR-193a-3p hsa-miR-106a hsa-miR-4305 hsa-miR-605 hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TCF4
    Clone
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    OriGene clones in human, mouse for TCF4 (see all 11)
    OriGene ORF clones in mouse, rat for TCF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF4 (NM_001083962)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF4
    Addgene plasmids for TCF4 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TCF4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF4
      QuantiTect SYBR Green Assays in human, mouse, rat TCF4
      QuantiFast Probe-based Assays in human, mouse, rat TCF4
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-11201) for TCF4 

    Additional mRNA sequence: 

    AB209741.1 AK021980.1 AK026674.1 AK095041.1 AK095066.1 AK096862.1 AK122765.1 AK299169.1 
    AK300038.1 AK300612.1 AK300636.1 AK301144.1 AK315074.1 AK316165.1 BC031056.1 BC125084.1 
    BC125085.1 FR748202.1 FR748203.1 FR748205.1 FR748207.1 FR748208.1 FR748209.1 FR748210.1 
    FR748211.1 FR748212.1 FR748213.1 FR748214.1 FR748215.1 FR748216.1 FR748217.1 FR748218.1 
    FR748219.1 FR748220.1 FR748221.1 FR748222.1 FR748223.1 M74718.1 M74719.1 M74720.1 
    X52079.1 

    Selected DOTS entries (see all 47):

    DT.448128  DT.86840324  DT.100892351  DT.100806486  DT.121101533  DT.100892349  DT.95169893  DT.100808993 
    DT.441773  DT.95292982  DT.121101581  DT.95169897  DT.121101588  DT.87079130  DT.100789378  DT.75148455 
    DT.75182387  DT.100892345  DT.100789379  DT.100753719  DT.75169556  DT.100892346  DT.40115779  DT.92447456 

    Selected AceView cDNA sequences (see all 512):

    CR604143 AI359999 BI753610 AA287097 BM787123 BU948052 AI589166 AW612439 
    CA312686 AI003998 AU120273 BP348534 BM669373 AA837089 BQ882546 AI638194 
    BQ706300 AI362674 CA776803 AA287187 AI090983 AU118026 AA677237 AA290666 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TCF4 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
    SP1:                                -                 -           -     -     -                 -                                               -               
    SP2:                                -                 -           -     -     -                 -                                               -               
    SP3:                                                  -           -     -     -                 -                                               -               
    SP4:                                                              -     -     -                 -                                               -               
    SP5:                                                                                                                                            -               

    ExUns: 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b
    SP1:                          -     -                           
    SP2:                                -                           
    SP3:                          -     -                           
    SP4:                                -                           
    SP5:                                                            


    ECgene alternative splicing isoforms for TCF4

    (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)
    About This Section

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    TCF4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACAGATGT
    TCF4 Expression
    About this image


    TCF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Mature B-Cells Peripheral Blood
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Tendon & Ligament
             Cranial Tendons Cells Branchial Arch 1
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
    TCF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCF4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.605153

    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
    Tissue specificity: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung.
    In developing embryonic tissues, expression mostly occurs in the brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF4: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Cardiotoxicity in human mouse rat

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    (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 TCF4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf41 , 5 transcription factor 41, 5 92.64(n)1
    98.2(a)1
      18 (43.23 cM)5
    214131  NM_013685.21  NP_038713.11 
     693441465 
    chicken
    (Gallus gallus)
    Aves TCF46
    transcription factor 4
    81(a)
    1 ↔ 1
    Z(21-138234)
    lizard
    (Anolis carolinensis)
    Reptilia TCF46
    transcription factor 4
    95(a)
    1 ↔ 1
    GL343213.1(524011-985687)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF342043.12   -- 80.67(n)    CF342043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01109624.16
    tcf46
    transcription factor 4
    78(a)
    77(a)
    1 ↔ many
    1 ↔ many
    21(1794705-1800202) ENSDARG00000075546
    21(1602919-1689003) ENSDARG00000087652
    fruit fly
    (Drosophila melanogaster)
    Insecta da3 oogenesis transcription factor 78(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-26
    Protein HLH-2, isoform a (hlh-2) mRNA, complete cd...
    24(a)
    1 → many
    I(7190848-7193916) WBGene00001949


    ENSEMBL Gene Tree for TCF4 (if available)
    TreeFam Gene Tree for TCF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TCF4 gene
    TCF122  TCF32  
    Selected SIMAP similar genes for TCF4 using alignment to 31 protein entries:     ITF2_HUMAN (see all proteins) (see all similar genes):
    EML2    HOOK2    VPS33A    ZNF814    CRCP    ZNF546
    DCTN5    DNAPTP3    TCF12    SH3PXD2A    UBIAD1    ZNF212
    C4orf21    LAMB4    ZNF283    ZNF527    PLEKHH2    APOPT1

    Find genes that share paralogs with TCF4           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 TCF4 (see all 6944)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0668414
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0668412 R H mis40--------
    VAR_0668404
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0668402 R P mis40--------
    VAR_0669734
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669732 R P mis40--------
    VAR_0586334
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0586332 R G mis40--------
    VAR_0347044
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0347042 R Q mis40--------
    VAR_0669724
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669722 R H mis40--------
    VAR_0586324
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0586322 D G mis40--------
    VAR_0669744
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669742 A P mis40--------
    VAR_0669714
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669712 R Q mis40--------
    VAR_0347054
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0347052 R W mis40--------

    HapMap Linkage Disequilibrium report for TCF4 (52889562 - 53139562 bp, first 250kb of TCF4)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TCF4 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2635967CNV Deletion19546169
    esv2717133CNV Deletion23290073
    dgv496e201CNV Deletion23290073
    esv2487089CNV Deletion19546169
    esv2659569CNV Deletion23128226
    esv271560CNV Insertion20981092
    esv273068CNV Insertion20981092
    nsv131347CNV Insertion16902084
    esv274560CNV Insertion20981092
    nsv2315CNV Loss18451855

    Human Gene Mutation Database (HGMD): TCF4
    Locus Specific Mutation Databases (LSDB): TCF4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TCF4
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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: 602272   
    OMIM disorders: 610954  
    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
  • Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, wide mouth and
    distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual
    disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing
    anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures,
    typical behavior and subtle brain abnormalities. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 6 diseases for TCF4:    
    About MalaCards
    pitt-hopkins syndrome    primary sclerosing cholangitis    corneal dystrophy fuchs endothelial 1    type 2 diabetes mellitus
    fuchs' endothelial dystrophy    mental retardation, autosomal dominant 10

    1 disease from the University of Copenhagen DISEASES database for TCF4:
    Fuchs' endothelial dystrophy

    Find genes that share disorders with TCF4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TCF4 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 70.8 3 12460462 (1), 11396184 (1), 15342948 (1)
    colon cancer 52.9 2 15667799 (1), 17167838 (1)
    endometrial carcinoma 43 4 18798221 (2), 15806138 (1), 10597289 (1)
    colorectal cancer 40.8 2 18439914 (1), 19376641 (1)
    colorectal tumors 28.8 1 10597289 (1)
    gastric cancer 27.9 13 18635522 (5), 16311123 (2), 10597289 (1)
    cancer 24.7 1 15667799 (1)
    hepatocellular carcinoma 21.6 6 14687479 (2), 15040893 (2), 12566320 (1)
    microsatellite instability 20.9 1 10597289 (1)
    tumors 14.9 16 15667799 (3), 16311123 (2), 10918391 (2), 18635522 (2) (see all 5)

    Genetic Association Database (GAD): TCF4
    Human Genome Epidemiology (HuGE) Navigator: TCF4 (251 documents)

    Export disorders for TCF4 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 TCF4 gene, integrated from 10 sources (see all 249):
    (articles sorted by number of sources associating them with TCF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. (PubMed id 9302263)1, 2, 3 Breschel T.S.... Ross C.A. (Hum. Mol. Genet. 1997)
    2. Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor. (PubMed id 2308860)1, 2, 3 Henthorn P.... Kadesch T. (Nucleic Acids Res. 1990)
    3. Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. (PubMed id 1681116)1, 2, 9 Corneliussen B.... Grundstroem T. (J. Virol. 1991)
    4. Common variants conferring risk of schizophrenia. (PubMed id 19571808)1, 4, 9 Stefansson H....Collier D.A. (Nature 2009)
    5. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. (PubMed id 24094747)1, 2 Riazuddin S.A....Gottsch J.D. (Am. J. Hum. Genet. 2013)
    6. Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (PubMed id 22777675)1, 2 Forrest M....Blake D.J. (Hum. Mutat. 2012)
    7. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (PubMed id 22045651)1, 2 Whalen S.... Giurgea I. (Hum. Mutat. 2012)
    8. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    9. Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing. (PubMed id 21789225)1, 2 Sepp M.... Timmusk T. (PLoS ONE 2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (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: 6925 HGNC: 11634 AceView: TCF4 Ensembl:ENSG00000196628 euGenes: HUgn6925
    ECgene: TCF4 H-InvDB: TCF4

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for TCF4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCF4 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 TCF4 gene:
    Search GeneIP for patents involving TCF4

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



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