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

TCF7L2 Gene

protein-coding   GIFtS: 67
GCID: GC10P114710

Transcription Factor 7-Like 2 (T-Cell Specific, HMG-Box)


(Previous symbol: TCF4)
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(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 7-Like 2 (T-Cell Specific, HMG-Box)1 2     T-Cell Factor-4 Variant E2
TCF41 2 3 5     T-Cell Factor-4 Variant F2
TCF-42 3     T-Cell Factor-4 Variant G2
hTCF-42 3     T-Cell Factor-4 Variant H2
HMG Box Transcription Factor 42 3     T-Cell Factor-4 Variant I2
T-Cell Factor 42 3     T-Cell Factor-4 Variant J2
T-Cell-Specific Transcription Factor 42 3     T-Cell Factor-4 Variant K2
T-Cell Factor-4 Variant A2     T-Cell Factor-4 Variant L2
T-Cell Factor-4 Variant B2     T-Cell Factor-4 Variant M2
T-Cell Factor-4 Variant C2     T-Cell Factor-4 Variant X22
T-Cell Factor-4 Variant D2     Transcription Factor 7-Like 22

External Ids:    HGNC: 116411   Entrez Gene: 69342   Ensembl: ENSG000001487377   OMIM: 6022285   UniProtKB: Q9NQB03   

Export aliases for TCF7L2 gene to outside databases

Previous GC identifers: GC10P113605 GC10P113943 GC10P114841 GC10P114374 GC10P114700 GC10P108337


(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 TCF7L2 Gene:
This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt
signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene
are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different
isoforms have been found for this gene.(provided by RefSeq, Oct 2010)

GeneCards Summary for TCF7L2 Gene: 
TCF7L2 (transcription factor 7-like 2 (T-cell specific, HMG-box)) is a protein-coding gene. Diseases associated with TCF7L2 include pitt-hopkins syndrome, and tropical calcific pancreatitis, and among its related super-pathways are Endometrial cancer and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TCF7L1.

UniProtKB/Swiss-Prot: TF7L2_HUMAN, Q9NQB0
Function: Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a
sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates
transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1.
TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of
dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial
stem-cell compartment of the small intestine

Gene Wiki entry for TCF7L2 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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCF7L2 gene promoter:
         N-Myc   PPAR-gamma1   STAT3   PPAR-gamma2   AP-2alpha   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TCF7L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCF7L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCF7L2


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

Entrez Gene cytogenetic band: 10q25.3   Ensembl cytogenetic band:  10q25.2   HGNC cytogenetic band: 10q25.3

TCF7L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF7L2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P114710:  view genomic region     (about GC identifiers)

Start:
114,710,009 bp from pter      End:
114,927,437 bp from pter
Size:
217,429 bases      Orientation:
plus 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: TF7L2_HUMAN, Q9NQB0 (See protein sequence)
Recommended Name: Transcription factor 7-like 2  
Size: 619 amino acids; 67919 Da
Subunit: Interacts with TGFB1I1 (By similarity). Interacts with CTNNB1 (via the armadillo repeat); forms stable
transcription complex. Interacts with EP300. Interacts with NLK. Interacts with CCDC85B (probably through the HMG
box); prevents interaction with CTNNB1. Interacts with TNIK. Interacts with MAD2L2; prevents TCF7L2/TCF4 binding
to promZIPK/DAPK3oters, negatively modulating its transcriptional activity. Interacts with ZIPK/DAPK3. Interacts
with XIAP/BIRC4 and TLE3. Interacts with DDIT3/CHOP
Subcellular location: Nucleus, PML body. Note=Diffuse pattern. Colocalizes with SUMO1 and PIAS4 in a subset of PML
(promyelocytic leukemia) nuclear bodies
Developmental stage: Highly expressed in crypt regions and barely detectable in villi in epithelium from fetal
small intestine at week 16. At week 22 expression in villi had increased strongly
3 PDB 3D structures from and Proteopedia for TCF7L2:
1JDH (3D)        1JPW (3D)        2GL7 (3D)    
Secondary accessions: F8W742 F8W7T5 O00185 Q9NQB1 Q9NQB2 Q9NQB3 Q9NQB4 Q9NQB5 Q9NQB6 Q9NQB7
Q9ULC2
Alternative splicing: 12 isoforms:  Q9NQB0-1   Q9NQB0-2   Q9NQB0-3   Q9NQB0-4   Q9NQB0-5   Q9NQB0-6   Q9NQB0-7   Q9NQB0-8   
Q9NQB0-9   Q9NQB0-10   Q9NQB0-11   Q9NQB0-12   

Explore the universe of human proteins at neXtProt for TCF7L2: NX_Q9NQB0

Explore proteomics data for TCF7L2 at MOPED 

Post-translational modifications:

  • UniProtKB: In vitro, phosphorylated by TNIK
  • UniProtKB: Phosphorylated at Thr-201 and/or Thr-212 by NLK. Phosphorylation by NLK at these sites inhibits DNA-binding by
    TCF7L2/TCF4, thereby preventing transcriptional activation of target genes of the canonical Wnt/beta-catenin
    signaling pathway
  • UniProtKB: Polysumoylated. Sumoylation is enhanced by PIAS family members and desumoylation is enhanced by SENP2.
    Sumoylation/desumoylation regulates TCF7L2/TCF4 transcription activity in the Wnt/beta-catenin signaling pathway
    without altering interaction with CTNNB1 nor binding to DNA
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQB0

  • TCF7L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCF7L2 Protein Expression
    REFSEQ proteins (13 alternative transcripts): 
    NP_001139746.1  NP_001139755.1  NP_001139756.1  NP_001139757.1  NP_001139758.1  NP_001185454.1  NP_001185455.1  NP_001185456.1  
    NP_001185457.1  NP_001185458.1  NP_001185459.1  NP_001185460.1  NP_110383.2  

    ENSEMBL proteins: 
     ENSP00000298692   ENSP00000358404   ENSP00000358402   ENSP00000345640   ENSP00000358396  
     ENSP00000277945   ENSP00000358393   ENSP00000435694   ENSP00000348274   ENSP00000440547  
     ENSP00000444972   ENSP00000446238   ENSP00000347949   ENSP00000446172   ENSP00000344823  
     ENSP00000443626   ENSP00000443883  

    Human Recombinant Protein Products for TCF7L2: 
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    Cloud-Clone Corp. Proteins for TCF7L2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA19443654
    GO:0005634nucleus IDA16532032
    GO:0005654nucleoplasm IDA19168596
    GO:0005667transcription factor complex IBA--
    GO:0016605PML body IEA--

    TCF7L2 for ontologies           About GeneDecksing



    TCF7L2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR027397 Catenin_binding_dom
     IPR009071 HMG_box_dom
     IPR024940 TCF/LEF
     IPR013558 CTNNB1-bd_N

    Graphical View of Domain Structure for InterPro Entry Q9NQB0

    ProtoNet protein and cluster: Q9NQB0

    1 Blocks protein domain: IPB013558 CTNNB1 binding

    UniProtKB/Swiss-Prot: TF7L2_HUMAN, Q9NQB0
    Domain: The promoter-specific activation domain interacts with the transcriptional coactivator EP300
    Similarity: Belongs to the TCF/LEF family
    Similarity: Contains 1 HMG box DNA-binding domain


    TCF7L2 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: TF7L2_HUMAN, Q9NQB0
    Function: Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a
    sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates
    transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1.
    TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of
    dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial
    stem-cell compartment of the small intestine

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA19443654
    GO:0001103RNA polymerase II repressing transcription factor binding IPI19443654
    GO:0003682chromatin binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9727977
    GO:0005515protein binding IPI11713475
         
    TCF7L2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TCF7L2:
     Increased S DNA content  Increased cell death in breast  Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Tcf7l2):
     adipose tissue  behavior/neurological  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  nervous system  tumorigenesis 

    TCF7L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TCF7L2: Tcf7l2tm1Cle Tcf7l2tm2.2Mrc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TCF7L2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TCF7L2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF7L2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF7L2 

    miRNA
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    miRTarBase miRNAs that target TCF7L2:
    hsa-mir-204 (MIRT005846)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TCF7L2
    8/106 QIAGEN miScript miRNA Assays for microRNAs that regulate TCF7L2 (see all 106):
    hsa-miR-411* hsa-miR-218-1* hsa-miR-1258 hsa-miR-485-3p hsa-miR-938 hsa-miR-877* hsa-miR-3161 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidTCF7L2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 13): TCF7L2 (NM_001146284)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF7L2


    (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 TCF7L2 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Endometrial cancer
    Endometrial cancer0.45
    Colorectal cancer0.42
    Signal transduction PTEN pathway0.45
    Acute myeloid leukemia0.40
    2Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.53
    3Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway0.40
    4Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    5Rho Family GTPases
    MAPK Signaling0.58
    ILK Signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for TCF7L2 (see all 6)
        Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Tight junctions
    Signal transduction PTEN pathway
    Development Endothelin-1/EDNRA signaling
    Development A3 receptor signaling

    1 R&D Systems Pathway for TCF7L2
        Wnt Signaling Pathway

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TCF7L2 (see all 7)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency
    JNK Pathway

    1 Cell Signaling Technology (CST) Pathway for TCF7L2
        Wnt / Hedgehog / Notch

    5/8 GeneGo (Thomson Reuters) Pathways for TCF7L2 (see all 8)
        Cytoskeleton remodeling Integrin outside-in signaling
    Development A2B receptor- action via G-protein alpha s
    Development VEGF signaling via VEGFR2 - generic cascades
    Development A3 receptor signaling
    Development HGF signaling pathway

    4 BioSystems Pathways for TCF7L2
        Wnt Signaling Pathway and Pluripotency
    Id Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    5/12         Kegg Pathways  (Kegg details for TCF7L2) (see all 12):
        Wnt signaling pathway
    Hippo signaling pathway
    Adherens junction
    Melanogenesis
    Pathways in cancer


    TCF7L2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCF7L2

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

    5/86 Interacting proteins for TCF7L2 (Q9NQB01, 2, 3 ENSP000003584044) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIC1Q145262, 3, ENSP000003140804MINT-2730845 MINT-2730694 MINT-2730765 MINT-2730819 MINT-2730877 MINT-2730798 I2D: score=2 STRING: ENSP00000314080
    ENSG00000206206Q9UER71, 3EBI-924724,EBI-77321 I2D: score=1 
    ENSG00000206279Q9UER71, 3EBI-924724,EBI-77321 I2D: score=1 
    ENSG00000227046Q9UER71, 3EBI-924724,EBI-77321 I2D: score=1 
    ENSG00000231617Q9UER71, 3EBI-924724,EBI-77321 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12799378
    GO:0001568blood vessel development IMP15578569
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA9727977

    TCF7L2 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

    TCF7L2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TCF7L2 (TF7L2)

    10/14 Novoseek inferred chemical compound relationships for TCF7L2 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proglucagon 66.6 1 15525634 (1)
    mononucleotide 53.9 4 18755497 (2), 11746989 (1), 19787250 (1)
    glycogen 50.7 4 20442281 (1), 15525634 (1), 15940626 (1), 19818782 (1)
    glucose 47 13 17697858 (1), 19105201 (1), 16415884 (1), 17437080 (1) (see all 11)
    sulindac 41.5 3 11751639 (1), 14610217 (1)
    lithium chloride 38.4 1 19679347 (1)
    ly294002 33.4 4 19190323 (1)
    phosphatidylinositol 11.7 4 19190323 (1)
    nitric oxide 5.06 1 20096072 (1)
    butyrate 0.698 2 11774242 (1)

    2 PharmGKB related drug/compound annotations for TCF7L2 gene    About this table
    Drug/compound PharmGKB Annotation
    sulfonamides, urea derivativesCA  
    repaglinideCA  

    Search CenterWatch for drugs/clinical trials and news about TCF7L2 / TF7L2

    (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 TCF7L2 gene (13 alternative transcripts): 
    NM_001146274.1  NM_001146283.1  NM_001146284.1  NM_001146285.1  NM_001146286.1  NM_001198525.1  NM_001198526.1  NM_001198527.1  
    NM_001198528.1  NM_001198529.1  NM_001198530.1  NM_001198531.1  NM_030756.4  

    Unigene Cluster for TCF7L2:

    Transcription factor 7-like 2 (T-cell specific, HMG-box)
    Hs.593995  [show with all ESTs]
    Unigene Representative Sequence: NM_001198525
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000349937 ENST00000369397(uc010qrs.2 uc010qrv.2 uc010qrw.2 uc010qrx.2)
    ENST00000369395 ENST00000346198 ENST00000369389 ENST00000277945 ENST00000369386
    ENST00000466338 ENST00000470254 ENST00000480888 ENST00000471569 ENST00000476887
    ENST00000494353 ENST00000355995(uc021pyg.1 uc021pyi.1 uc010qrp.2 uc010qrq.2 uc001lac.4)
    ENST00000545257(uc001lah.3 uc010qrt.2) ENST00000543371(uc001lae.4 uc021pyk.1 uc021pyn.1 uc010qrl.2)
    ENST00000536810(uc001laf.4) ENST00000355717(uc001lag.4 uc010qrr.2 uc010qru.2)


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    Additional mRNA sequence: 

    AB034691.1 AB440195.1 AB451266.1 AK054578.1 AK074705.1 AK225809.1 AK296305.1 AK299295.1 
    AK301483.1 AK303684.1 AK315243.1 AK316111.1 BC032656.1 BX648364.1 CR536574.1 FJ010164.1 
    FJ010165.1 FJ010166.1 FJ010167.1 FJ010168.1 FJ010169.1 FJ010170.1 FJ010171.1 FJ010172.1 
    FJ010173.1 FJ010174.1 HM352838.1 HM352839.1 HM352840.1 HM352841.1 HM352842.1 HM352843.1 
    HM352844.1 HM352845.1 HM352846.1 HM352847.1 HM352848.1 HM352849.1 HM352850.1 HM352851.1 
    Y11306.2 

    22 DOTS entries:

    DT.100717951  DT.100814194  DT.95371069  DT.95371070  DT.121279537  DT.121279368  DT.110441  DT.97859220 
    DT.121279438  DT.121279575  DT.91742749  DT.100814193  DT.40266758  DT.75100728  DT.121279380  DT.121279454 
    DT.121279480  DT.70101434  DT.99954951  DT.75136202  DT.91856101  DT.99984552 

    24/176 AceView cDNA sequences (see all 176):

    AU120697 BM702280 AI084440 BM142562 AI868258 BU729078 AW467057 BU195676 
    AI263902 AA812256 T54154 BG057515 AA362301 BM360880 BU617649 BM681576 
    AI933235 CR536574 BM671072 AI168772 AA954024 CA450439 AB034691 BF223368 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TCF7L2 (see all 10)    About this scheme

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

    ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e
    SP1:                    -                                 
    SP2:        -     -                                       
    SP3:              -     -                                 
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for TCF7L2

    (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

    TCF7L2 expression in normal human tissues (normalized intensities)      TCF7L2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTACCAA
    TCF7L2 Expression
    About this image


    TCF7L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/45 selected tissues (see all 45) fully expand
     
     Brain (Nervous System)    fully expand to see all 26 entries
             Pre-myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 11 entries
             Oligodendrocyte Precursor Cells Caudal Ganglionic Eminence
             Telencephalon
             brain/midbrain/lateral wall   
     
     Epithelium
             vagina ; squamous epithelial cells   
             breast epithelium   
     
     Uterus (Reproductive System)    fully expand to see all 6 entries
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 5 entries
             colon ; endothelial cells   
             colonic mucosal (ibs)   

    See TCF7L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCF7L2

    SOURCE GeneReport for Unigene cluster: Hs.593995

    UniProtKB/Swiss-Prot: TF7L2_HUMAN, Q9NQB0
    Tissue specificity: Detected in epithelium from small intestine, with the highest expression at the top of the
    crypts and a gradient of expression from crypt to villus. Detected in colon epithelium and colon cancer, and in
    epithelium from mammary gland and carcinomas derived therefrom

        SABiosciences Expression via Pathway-Focused PCR Arrays including TCF7L2 (see all 6): 
              Parkinson's Disease in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat
              Transcription Factors 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TCF7L2 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf7l21 , 5 transcription factor 7 like 2, T cell specific, HMG more1, 5 89.87(n)1
    97.06(a)1
      19 (51.59 cM)5
    214161  NM_001142922.11  NP_001136394.11 
     557418205 
    chicken
    (Gallus gallus)
    Aves TCF7L21 transcription factor 7-like 2 (T-cell specific, HMG-box) 85.88(n)
    94.27(a)
      395508  NM_001206510.1  NP_001193439.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    94(a)
    85(a)
    1 ↔ many
    1 ↔ many
    AAWZ02039818(1550-4389)
    GL343204.1(1234849-1479528)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119872 Xenopus laevis T-cell factor 4 mRNA, complete cds 78.33(n)    AF207708.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tcf42 transcription factor tcf4 81.31(n)   30510  AF507957.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pan1 , 3 heart development transcription factor3
    pangolin1
    38(a)3
    48.02(n)1
    45.7(a)1
      437691  NM_001014685.21  NP_001014685.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pop-16
    Protein pop-1
    26(a)
    1 → many
    I(2823468-2830293)


    ENSEMBL Gene Tree for TCF7L2 (if available)
    TreeFam Gene Tree for TCF7L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCF7L2 gene
    TCF7L12  LEF12  TCF72  
    7 SIMAP similar genes for TCF7L2 using alignment to 25 protein entries:     TF7L2_HUMAN (see all proteins):
    DKFZp586H0919    TCF7L1    TCF7    CIC    LEF1    soxB
    SRY

    TCF7L2 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

    10/5536 SNPs in TCF7L2 are shown (see all 5536)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359394
    A colorectal cancer sample4--see VAR_0359392 R C mis40--------
    rs721014021,2
    C--108338369(+) TTCTA-/CCCCCC 13 -- int10--------
    rs1123851751,2
    C--108339201(+) AGAACT/-TTTCC 13 -- int11Minor allele frequency- -:0.00CSA 2
    rs57879821,2
    C,F--108341480(+) GTGTGT/-TTTTA 13 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs21045971,2
    C--108343654(-) CATTTA/Taaaaa 13 -- int10--------
    rs350542851,2
    C--108344501(+) TTTTT-/T/TTT 
            
    GAGAT
    13 -- int11NA 2
    rs2006142271,2
    --108348542(+) TGACC-/GCCCCC 13 -- int10--------
    rs1854061041,2
    C--108348543(+) TGACCC/GCCCCC 13 -- int10--------
    rs353744331,2
    C--108354064(+) AATGG-/CAAAAA 13 -- int12Minor allele frequency- C:0.42CSA NS 288
    rs720438901,2
    C--108354066(+) ATGGA-/CAAAAG 13 -- int10--------

    HapMap Linkage Disequilibrium report for TCF7L2 (114710009 - 114927437 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TCF7L2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2074123CNV Deletion18987734
    nsv437693CNV Loss16327808
    nsv527837CNV Loss19592680
    nsv24033CNV Loss16902084
    nsv7553CNV Loss18451855
    nsv7211OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): TCF7L2
    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: 602228   
    OMIM disorders: 125853  
    UniProtKB/Swiss-Prot: TF7L2_HUMAN, Q9NQB0
  • Note=Constitutive activation and subsequent transactivation of target genes may lead to the maintenance
    of stem-cell characteristics (cycling and longevity) in cells that should normally undergo terminal
    differentiation and constitute the primary transforming event in colorectal cancer (CRC)
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 20/62 diseases for TCF7L2 (see all 62):    About MalaCards
    pitt-hopkins syndrome    tropical calcific pancreatitis    diabetes, type 2    neonatal diabetes mellitus
    gestational diabetes    familial colorectal cancer    nonalcoholic steatohepatitis    maturity-onset diabetes of the young
    colorectal cancer    obesity, association with    glucose intolerance    familial adenomatous polyposis
    diabetes mellitus    familial breast cancer    clear cell renal cell carcinoma    insulin resistance
    polycystic ovary syndrome    pituitary tumors    renal cell carcinoma    colon cancer

    1 disease from the University of Copenhagen DISEASES database for TCF7L2:
    Diabetes mellitus

    TCF7L2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/30 Novoseek inferred disease relationships for TCF7L2 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 70.6 5 14610217 (1), 10080941 (1), 15591320 (1), 15972967 (1)
    colon cancer 61.9 21 11876551 (2), 18268068 (2), 18398040 (2), 18182714 (1) (see all 13)
    colorectal tumors 59.2 8 18992165 (2), 11528255 (2), 11980438 (1), 17408638 (1) (see all 5)
    microsatellite instability 57.3 9 17659738 (2), 10485457 (1), 11876551 (1), 15905022 (1) (see all 8)
    colorectal cancer 53.2 18 16547505 (3), 19924301 (3), 10919662 (2), 10485457 (1) (see all 10)
    niddm 50.2 19 19386626 (2), 18599616 (2), 17697858 (1), 18291022 (1) (see all 11)
    insulin sensitivity 49.2 5 18398040 (1)
    insulin resistance 45.1 2 16936218 (1), 20107109 (1)
    colorectal carcinoma 44.9 1 15802015 (1)
    colon carcinoma 43.3 1 10549354 (1)

    Genetic Association Database (GAD): TCF7L2
    Human Genome Epidemiology (HuGE) Navigator: TCF7L2 (244 documents)

    Export disorders for TCF7L2 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 TCF7L2 gene, integrated from 9 sources (see all 580):
    (articles sorted by number of sources associating them with TCF7L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. (PubMed id 16415884)1, 2, 4, 9 Grant S.F.A.... Stefansson K. (2006)
    2. Association of hTcf-4 gene expression and mutation with clinicopathological characteristics of hepatocellular carcinoma. (PubMed id 12378619)1, 4, 9 Jiang Y....Huang X.W. (2002)
    3. Restricted high level expression of Tcf-4 protein in intestinal and mammary gland epithelium. (PubMed id 9916915)1, 2, 9 Barker N.... Clevers H. (1999)
    4. Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study. (PubMed id 18302196)1, 4, 9 Agalliu I....Ostrander E.A. (2008)
    5. Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study. (PubMed id 17109766)1, 4, 9 Burwinkel B....Frank B. (2006)
    6. No effect of cancer-associated SNP rs6983267 in the 8 q24 region on co-expression of MYC and TCF7L2 in normal colon tissue. (PubMed id 19895682)1, 4, 9 Prokunina-Olsson L. and Hall J.L. (2009)
    7. Variation in TCF7L2 and increased risk of colon cancer: the Atherosclerosis Risk in Communities (ARIC) Study. (PubMed id 18268068)1, 4, 9 Folsom A.R....Boerwinkle E. (2008)
    8. Disparate genetic influences on polycystic ovary syndrome (PCOS) and type 2 diabetes revealed by a lack of association between common variants within the TCF7L2 gene and PCOS. (PubMed id 17805508)1, 4, 9 Barber T.M....McCarthy M.I. (2007)
    9. Identification of Tcf4 residues involved in high-affinity beta- catenin binding. (PubMed id 10080941)1, 2, 9 Omer C.A.... Kral A.M. (1999)
    10. Transcription factor TCF7L2 genetic study in the French population: expression in human beta-cells and adipose tissue and strong association with type 2 diabetes. (PubMed id 17003360)1, 4, 9 Cauchi S....Froguel P. (2006)

    (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: 6934 HGNC: 11641 AceView: TCF7L2 Ensembl:ENSG00000148737 euGenes: HUgn6934
    ECgene: TCF7L2 Kegg: 6934 H-InvDB: TCF7L2

    (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 TCF7L2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCF7L2 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 TCF7L2 gene:
    Search GeneIP for patents involving TCF7L2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     See all of Abcam's Antibodies, Kits and Proteins for TCF7L2
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     Abcam protocols and scientific support
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     Proteins for TCF7L2
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     ELISAs for TCF7L2
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     Search LifeMap BioReagents cell lines for TCF7L2
     Gene Synthesis
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF7L2
     SwitchGear 3'UTR luciferase reporter plasmids for TCF7L2
     SwitchGear Promoter luciferase reporter plasmids for TCF7L2
     ThermoFisher Antibodies for TCF7L2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF7L2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TCF7L2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TCF7L2
    Customized:
     lentivirus for stable overexpression of TCF7L2
     lentivirus expression plasmids for stable overexpression of TCF7L2
     adenovirus for overexpression of TCF7L2
     LSBio Antibodies in human, mouse, rat for TCF7L2
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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