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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCF4 Gene

protein-coding   GIFtS: 68
GCID: GC18M052889

Transcription Factor 4

  See 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)
About This Section

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fuchs' endothelial dystrophy, and among its related super-pathways are MAPK Signaling and Myogenesis. GO annotations related to this gene include transcription corepressor activity 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TCF4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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). The CTNNB1 and TCF4 complex
interacts with PML (isoform PML-4). Identified in a complex with CTNNB1 and FERMT2
Subcellular location: Nucleus
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 G0LNT9 G0LNU0 G0LNU1 G0LNU2 G0LNU5
G0LNU8 G0LNU9 G0LNV0 G0LNV1 H3BPQ1 Q08AP2 Q08AP3 Q15439 Q15440 Q15441
Alternative splicing: 13 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   

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

Explore proteomics data for TCF4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15884

  • TCF4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCF4 Protein Expression
    REFSEQ proteins (12 alternative transcripts): 
    NP_001077431.1  NP_001230155.1  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
    Human Recombinant Protein Products for TCF4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for TCF4
    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. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    TCF4 for ontologies           About GeneDecksing



    TCF4 Antibody Products: 
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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 

    Assay Products for TCF4: 
    Browse Kits and Assays available from EMD Millipore
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    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.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TCF4 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 13 molecular function terms (GO ID links to tree view) (see first 5):    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
    GO:0003677DNA binding IDA1681116
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11802795
    GO:0003714transcription corepressor activity ----
    GO:0005515protein binding IPI10903890
    GO:0008022protein C-terminus binding IPI10903890
    GO:0046982protein heterodimerization activity NAS2105528
    GO:0046983protein dimerization activity ----
    GO:0070888E-box binding ISS--
         
    TCF4 for ontologies           About GeneDecksing


    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  hearing/vestibular/ear  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  skeleton 

    TCF4 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TCF4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    10/571 SABiosciences Target genes for TCF4 (see all 571):
    AASDH ABCA7 ACR ACTBL2 AFAP1L1 AGAP4 AGAP7 AGAP8 AGBL3 AGBL4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF4:
    hsa-mir-204 (MIRT005846)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TCF4
    8/187 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TCF4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TCF4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TCF4
    Sirion Biotech Customized adenovirus for overexpression of TCF4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TCF4 (see all 13)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of TCF4 
                         Customized lentivirus expression plasmids for stable overexpression of TCF4 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TCF4
    Search LifeMap BioReagents cell lines for TCF4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TCF4 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    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
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    4Axon guidance
    Developmental Biology0.69
    5Canonical Wnt Pathway
    Canonical Wnt Pathway0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TCF4
        Selected targets of Oct-3/4

    5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TCF4 (see all 10)
        MAPK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    4 BioSystems Pathways for TCF4
        Neural Crest Differentiation
    Wnt Signaling Pathway NetPath
    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

    3        Reactome Pathways for TCF4
        Developmental Biology
    Myogenesis
    CDO in myogenesis



    TCF4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCF4

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

    5/57 Interacting proteins for TCF4 (P158841, 2, 3 ENSP000003464404) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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
    ASCL1P505531, 3, ENSP000002667444EBI-533224,EBI-957042 I2D: score=4 STRING: ENSP00000266744
    FERMT2Q96AC12MINT-8398937 MINT-8399030 MINT-8398862 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398954
    DAXXQ9UER73, ENSP000002660004I2D: score=2 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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

    TCF4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TCF4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TCF4 / ITF2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TCF4 gene (12 alternative transcripts): 
    NM_001083962.1  NM_001243226.1  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
    18/48 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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    8/187 QIAGEN miScript miRNA 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
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    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of TCF4 
                         Customized lentivirus expression plasmids for stable overexpression of TCF4 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCF4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/47 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 

    24/512 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

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TCF4 expression in normal human tissues (normalized intensities)      TCF4 embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             sensory organ/eye/cornea   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Plasmacytoid Dendritic cells Peripheral Blood
             Peripheral blood-derived hematopoietic stem cells
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Limb Bud Mesenchyme Cells Limb Bud
             limb/hindlimb   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ/urogenital sinus/nerves of urogenital sinus   

    See TCF4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCF4

    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

        SABiosciences Expression via Pathway-Focused 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TCF4 gene from 7/15 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 92.69(n)1
    98.21(a)1
      18 (43.23 cM)5
    214131  NM_013685.21  NP_038713.11 
     693441465 
    chicken
    (Gallus gallus)
    Aves TCF46
    transcription factor 4
    80(a)
    1 ↔ 1
    Z(21-138234)
    lizard
    (Anolis carolinensis)
    Reptilia TCF46
    --
    Uncharacterized protein
    95(a)
    72(a)
    1 ↔ 1
    possible ortholog
    GL343213.1(524011-985687)
    AAWZ02036688(11524-14458)
    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)
    possible ortholog
    1 ↔ 1
    21(1794705-1800202)
    21(1602919-1689003)
    fruit fly
    (Drosophila melanogaster)
    Insecta da3 oogenesis transcription factor 78(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-26
    Protein HLH-2, isoform a
    22(a)
    1 → many
    I(7190848-7193916)


    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)
    About This Section
    Paralogs for TCF4 gene
    TCF122  TCF32  
    18/86 SIMAP similar genes for TCF4 using alignment to 32 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

    TCF4 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6944 SNPs in TCF4 are shown (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) 10/12 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/43 diseases for TCF4 (see all 43):    About MalaCards
    pitt-hopkins syndrome    fuchs' endothelial dystrophy    autonomic dysfunction    corneal dystrophy
    tauopathy    rett syndrome    primary sclerosing cholangitis    endotheliitis
    familial adenomatous polyposis    sclerosing cholangitis    myocarditis    noma
    endometrial carcinoma    cholangitis    pituitary tumors    microcephaly
    angelman syndrome    bipolar disorder    colon cancer    gastric cancer

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

    TCF4 for disorders           About GeneDecksing

    10/14 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)
    About This Section

    PubMed articles for TCF4 gene, integrated from 9 sources (see all 238):
    (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. (1997)
    2. Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor. (PubMed id 2308860)1, 2, 3 Henthorn P.... Kadesch T. (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. (1991)
    4. Common variants conferring risk of schizophrenia. (PubMed id 19571808)1, 4, 9 Stefansson H....Collier D.A. (2009)
    5. Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (PubMed id 22777675)1, 2 Forrest M....Blake D.J. (2012)
    6. b-catenin inhibits promyelocytic leukemia protein tumo r suppressor function in colorectal cancer cells. (PubMed id 22155184)1, 2 Satow R....Yamada T. (2012)
    7. Kindlin 2 forms a transcriptional complex with b-caten in and TCF4 to enhance Wnt signalling. (PubMed id 22699938)1, 2 Yu Y....Zhang H. (2012)
    8. Genome-wide association study identifies five new schi zophrenia loci. (PubMed id 21926974)1, 4 (2011)
    9. Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and s plicing. (PubMed id 21789225)1, 2 Sepp M....Timmusk T. (2011)
    10. 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. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6925 HGNC: 11634 AceView: TCF4 Ensembl:ENSG00000196628 euGenes: HUgn6925
    ECgene: TCF4 H-InvDB: TCF4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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