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

TCF4 Gene

protein-coding   GIFtS: 66
GCID: GC18M052889

transcription factor 4
 Explore 47 diseases affiliated with
TCF4 via
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our new
 Human Malady Compendium 
Biological research products
for TCF4    

Aliases
for TCF4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transcription Factor 41 2     ITF-22 3
ITF21 2 3 5     SEF-22 3
BHLHb191     TCF-42 3
SEF22 3 5     SL3-3 Enhancer Factor 22 3
E2-21 2     PTHS2 5
SEF2-1B1 2     SEF2-12
Class B Basic Helix-Loop-Helix Protein 192 3     SEF2-1A2
Immunoglobulin Transcription Factor 22 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


Summaries
for TCF4 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
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 plasmid: TCF4 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

Proteins
for TCF4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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)
Subcellular location: Nucleus (Probable)
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 G0LNT9 G0LNU0 G0LNU1 G0LNU2 G0LNU8 G0LNU9 G0LNV0
G0LNV1 Q08AP2 Q08AP3 Q15439 Q15440 Q15441
Alternative splicing: 11 isoforms:  P15884-1   P15884-2   P15884-3   P15884-4   P15884-5   P15884-6   P15884-7   P15884-8   
P15884-9   P15884-10   P15884-11   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15884

    • TCF4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Protein Over-expression Lysate (see all 2): TCF4
    OriGene Custom Protein Services for TCF4 
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    Novus Biologicals TCF4 Protein
    Novus Biologicals TCF4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TCF4

    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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    Uscn Antibodies for TCF4
    ThermoFisher Antibodies for TCF4

    Assay Products for TCF4: 
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    Uscn ELISAs and CLIAs for TCF4

    Protein Domains /
    Families
    for TCF4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TCF4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry P15884

    ProtoNet protein and cluster: P15884

    1 Blocks protein family: 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


    Function
    for TCF4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

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

    10/578 SABiosciences Target genes for TCF4 (see all 578):
    AASDH ABCA7 ACR ACTBL2 AFAP1L1 AGAP4 AGAP7 AGAP8 AGBL3 AGBL4

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

    OriGene 3'-UTR Clone (see all 2): TCF4
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TCF4 (see all 7)
    OriGene shRNA RFP: TCF4
    OriGene siRNA: TCF4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TCF4

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TCF4 (see all 6)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF4 

    Cell Line
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    Search LifeMap BioReagents cell lines for TCF4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4

    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    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


    TCF4 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for TCF4: Tcf4tm1Zhu Tcf4tm1.1Hmb
         8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Tcf4):
     cellular  growth/size  hearing/vestibular/ear  hematopoietic system  immune system 
     mortality/aging  nervous system  skeleton 

    TCF4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TCF4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51
    		ILK Signaling0.45
    		MAPK Signaling0.51
    2Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    3Activation of p38 alpha/beta MAPK
    		CDO in myogenesis0.55
    		Myogenesis0.55
    4Selected targets of Oct-3/4
    		Selected targets of Oct-3/41.00
    5Neural Crest Differentiation
    		Neural Crest Differentiation1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Coregulation of Androgen receptor activity

    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)

    5/53 Interacting proteins for TCF4 (P158841, 2, 3 ENSP000003464404) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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
    CALM1P621583, ENSP000003494674I2D: score=7 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=7 STRING: ENSP00000272298
    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 IEA--
    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



    Drugs & Compounds
    for TCF4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    2 Novoseek 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 

    Transcripts
    for TCF4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    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
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    Clone
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    Primer
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    Additional cDNA 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):

    AA287187 T55908 AI291882 AI784460 AI431709 BM661935 AI003998 AA865756 
    AI097389 AI492030 AA861728 CD672923 AA232583 AU122270 BE795544 D61472 
    BU069915 BF057715 AA669136 BX420631 AA287097 BM800432 AI174523 AU120247 

    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

    Expression
    for TCF4 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACAGATGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TCF4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Tendons CellsTendons & Ligaments
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    EyeInner Nuclear LayerAII Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    Orthologs
    for TCF4 gene

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia TCF46
    --
    		 --
    		 95(a)
    72(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343213.1(526409-578219)
    AAWZ02036688(11541-14447)
    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)
    73(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
    		 Helix Loop Helix family member (hlh-2)
    		 25(a)
    		 1 → many
    		 I(7190846-7193914)


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

    Paralogs
    for TCF4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCF4 gene
    TCF122  TCF32  
    18/69 SIMAP similar genes for TCF4 using alignment to 34 protein entries:     ITF2_HUMAN (see all proteins) (see all similar genes):
    EML2    HOOK2    VPS33A    CRCP    NXPE2    DCTN5
    DNAPTP3    TCF12    SH3PXD2A    ZNF212    C4orf21    LAMB4
    ZNF283    ZNF527    PLEKHH2    APOPT1    BTBD2    ERBB2

    TCF4 for paralogs           About GeneDecksing



    Genomic Variants
    for TCF4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5628 NCBI SNPs in TCF4 are shown (see all 5628)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs750908421,2
    		F,--49599560(+) CTACCG/ACGGGC 12 -- ut311Minor allele frequency- A:0.02EA 120
    rs12610831,2
    		--49600217(-) AAACAT/CACAAA 12 -- ut311Minor allele frequency- C:0.00MN 184
    rs782481091,2
    		--49600308(+) ATATGA/GACAAT 12 -- ut310--------
    rs1166139241,2
    		C,F,--49600399(+) TTCATC/TGAATA 12 -- ut311Minor allele frequency- T:0.02WA 118
    rs615248341,2
    		--49600492(+) GGACAC/GTTCTA 12 -- ut310--------
    rs1113024181,2
    		--49601532(+) CAAATT/AAAAAA 12 -- ut311Minor allele frequency- A:0.50CSA 2
    rs766400611,2
    		C,F,--49601978(+) TTTTTT/CTCTTT 12 -- ut311Minor allele frequency- C:0.03NA 120
    rs2014469351,2
    		C--49603787(+) TTAAAC/TCNNNN 12 -- ut310--------
    rs2003230491,2
    		C--49603789(-) GGCTGG/TGATTT 12 -- ut310--------
    rs17994101,2
    		C--49604123(+) CAGGGA/GAAGGG 12 -- ut312Minor allele frequency- G:0.02MN NA 186

    HapMap Linkage Disequilibrium report for TCF4 (52889562 - 53139562 bp, first 250kb of TCF4)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TCF4
         3 CNVs: 102673 1980 102672
    Human Gene Mutation Database (HGMD): TCF4

    Locus Specific Mutation Databases (LSDB): TCF4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCF4
    DNA2.0 Custom Variant and Variant Library Synthesis for TCF4

    Disorders / Diseases
    for TCF4 gene

    (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.)
    About This Section
    TCF4 for disorders           About GeneDecksing

    OMIM gene information: 602272   
    OMIM disorders: 610954  
    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
  • Defects in TCF4 are a cause of Pitt-Hopkins syndrome (PTHS) [MIM:610954]. PTHS is a rare syndromic
    • encephalopathy characterized by severe psychomotor delay, epilepsy, daily bouts of diurnal hyperventilation starting
    in infancy, mild postnatal growth retardation, postnatal microcephaly, and distinctive facial features. Since most
    hitherto reported cases have been sporadic, with males and females equally affected, PTHS is regarded as an autosomal
    dominant condition

    20/47 diseases for TCF4 (see all 47):    About MalaCards
    pitt-hopkins syndrome    fuchs' endothelial dystrophy    familial adenomatous polyposis    adenomatous polyposis coli
    autonomic dysfunction    corneal dystrophy    esophageal squamous cell carcinoma    squamous cell carcinoma
    polyposis    endometrial carcinoma    tauopathy    renal cell carcinoma
    bipolar disorder    pituitary tumor    hepatocellular carcinoma    carcinoma
    colon cancer    gastric cancer    microcephaly    colorectal cancer

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

    14 Novoseek disease relationships for TCF4 gene (see top 10)    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)
    leukemia 0 3 1681116 (1), 11973610 (1)
    carcinoma squamous cell 0 1 15667799 (1)
    metastasis 0 2 16311123 (2)
    carcinoma 0 2 15806138 (1), 15667799 (1)

    Human Genome Epidemiology (HuGE) Navigator: TCF4 (251 documents)

    Export disorders for TCF4 gene to outside databases

    Publications
    for TCF4 gene

    (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 212):
    (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. 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)
    5. 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)
    6. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (PubMed id 19235238)1, 2 de Pontual L.... Amiel J. (2009)
    7. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. (PubMed id 17436254)1, 2 Amiel J.... Colleaux L. (2007)
    8. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (PubMed id 17436255)1, 2 Zweier C.... Rauch A. (2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for TCF4 gene

    (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)

    Genome Databases showing TCF4 gene

    (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

    Other Databases showing TCF4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TCF4 gene

    (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

    Intellectual Property
    for TCF4 gene

    (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



    Products
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