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TCF7L1 Gene

protein-coding   GIFtS: 63
GCID: GC02P085272

Transcription Factor 7-Like 1 (T-Cell Specific, HMG-Box)


(Previous symbol: TCF3)
  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)
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Aliases
Transcription Factor 7-Like 1 (T-Cell Specific, HMG-Box)1 2
TCF31 2 3
TCF-32 3
HMG Box Transcription Factor 32 3
Transcription Factor 7-Like 12

External Ids:    HGNC: 116401   Entrez Gene: 834392   Ensembl: ENSG000001522847   OMIM: 6046525   UniProtKB: Q9HCS43   

Export aliases for TCF7L1 gene to outside databases

Previous GC identifers: GC00U990369 GC02P085318 GC02P085335


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TCF7L1 Gene:
This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These
transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the
transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA
binding domain and participates in the regulation of cell cycle genes and cellular senescence. (provided by
RefSeq, Nov 2010)

GeneCards Summary for TCF7L1 Gene:
TCF7L1 (transcription factor 7-like 1 (T-cell specific, HMG-box)) is a protein-coding gene. Diseases associated with TCF7L1 include thyroid cancer, and basal cell carcinoma. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is LEF1.

UniProtKB/Swiss-Prot: TF7L1_HUMAN, Q9HCS4
Function: Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of
CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the
formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity).
Down-regulates NQO1, leading to increased mitomycin c resistance

Gene Wiki entry for TCF7L1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCF7L1 gene promoter:
         GATA-3   RREB-1   Olf-1   STAT5A   AP-2gamma   c-Myb   STAT3   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCF7L1 promoter sequence
   Search Chromatin IP Primers for TCF7L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCF7L1


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

TCF7L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF7L1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P085272:  view genomic region     (about GC identifiers)

Start:
85,360,533 bp from pter      End:
85,537,511 bp from pter
Size:
176,979 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TF7L1_HUMAN, Q9HCS4 (See protein sequence)
Recommended Name: Transcription factor 7-like 1  
Size: 588 amino acids; 62631 Da
Subunit: Binds the armadillo repeat of CTNNB1 and forms a stable complex (By similarity)
Secondary accessions: Q53R97 Q6PD70 Q9NP00

Explore the universe of human proteins at neXtProt for TCF7L1: NX_Q9HCS4

Explore proteomics data for TCF7L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys348, Lys394
  • Modification sites at PhosphoSitePlus

  • See TCF7L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_112573.1  
    ENSEMBL proteins: 
     ENSP00000282111   ENSP00000388984  
    Reactome Protein details: Q9HCS4

    TCF7L1 Human Recombinant Protein Products:

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    TCF7L1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for TCF7L1

    TCF7L1 Assay Products:

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    Cloud-Clone Corp. CLIAs for TCF7L1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR027397 Catenin_binding_dom
     IPR009071 HMG_box_dom
     IPR024940 TCF/LEF
     IPR013558 CTNNB1-bd_N
     IPR028776 Tcf7l1_mammal-typ

    Graphical View of Domain Structure for InterPro Entry Q9HCS4

    ProtoNet protein and cluster: Q9HCS4

    1 Blocks protein domain: IPB013558 CTNNB1 binding

    UniProtKB/Swiss-Prot: TF7L1_HUMAN, Q9HCS4
    Domain: The putative Groucho interaction domain between the N-terminal CTNNB1 binding domain and the HMG-box is
    necessary for repression of the transactivation mediated by TCF7L1 and CTNNB1 (By similarity)
    Similarity: Belongs to the TCF/LEF family
    Similarity: Contains 1 HMG box DNA-binding domain


    TCF7L1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TF7L1_HUMAN, Q9HCS4
    Function: Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of
    CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the
    formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity).
    Down-regulates NQO1, leading to increased mitomycin c resistance

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS11085512
    GO:0003682chromatin binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS11085512
    GO:0005515protein binding ----
    GO:0008013beta-catenin binding IBA--
         
    TCF7L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TCF7L1:
     Increased cell number in S 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tcf7l1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     pigmentation  vision/eye 

    TCF7L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tcf7l1tm2Efu for TCF7L1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCF7L1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TCF7L1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF7L1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF7L1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ACATCAAAGG 

    miRNA
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    miRTarBase miRNAs that target TCF7L1:
    hsa-mir-141-3p (MIRT021652), hsa-mir-200b-3p (MIRT024127), hsa-mir-200c-3p (MIRT021073), hsa-mir-429 (MIRT016640), hsa-mir-200a-3p (MIRT020351)

    Block miRNA regulation of human, mouse, rat TCF7L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF7L1 (see all 59):
    hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-759 hsa-miR-372 hsa-miR-93 hsa-miR-302b
    SwitchGear 3'UTR luciferase reporter plasmidTCF7L1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF7L1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TF7L1_HUMAN, Q9HCS4: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11085512
    GO:0005667transcription factor complex IBA--

    TCF7L1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TCF7L1 About   (see all 14)                                                                                              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 cardiomyopathy0.54
    3Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathways0.40
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Integrin outside in signaling0.37
    Cell adhesion Tight junctions0.33
    5Basal cell carcinoma
    Basal cell carcinoma0.43
    Melanogenesis0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for TCF7L1
        Wnt Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TCF7L1 (see all 10)
        MAPK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    1 Cell Signaling Technology (CST) Pathway for TCF7L1
        Wnt / Hedgehog / Notch

    3 GeneGo (Thomson Reuters) Pathways for TCF7L1
        Cytoskeleton remodeling Integrin outside-in signaling
    Signal transduction PTEN pathway
    Cell adhesion Tight junctions

    4 BioSystems Pathways for TCF7L1
        Wnt Signaling Pathway and Pluripotency
    Neural Crest Differentiation
    Arrhythmogenic right ventricular cardiomyopathy
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    4 Reactome Pathways for TCF7L1
        deactivation of the beta-catenin transactivating complex
    Ca2+ pathway
    binding of TCF/LEF:CTNNB1 to target gene promoters
    formation of the beta-catenin:TCF transactivating complex


    Selected Kegg Pathways  (Kegg details for TCF7L1) (see all 12):
        Wnt signaling pathway
    Hippo signaling pathway
    Adherens junction
    Melanogenesis
    Pathways in cancer


    TCF7L1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF7L1: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TCF7L1

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

    Selected Interacting proteins for TCF7L1 (Q9HCS43 ENSP000002821114) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ID3Q025353, ENSP000003636894I2D: score=1 STRING: ENSP00000363689
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    DAZAP2Q150383, ENSP000004049684I2D: score=1 STRING: ENSP00000404968
    TRAF1Q130773I2D: score=1 
    AXIN2ENSP000003026254STRING: ENSP00000302625
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization NAS11085512
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS11085512
    GO:0006357regulation of transcription from RNA polymerase II promoter IBA--
    GO:0007420brain development IBA--

    TCF7L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TCF7L1 (TF7L1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TCF7L1 gene: 
    NM_031283.2  

    Unigene Cluster for TCF7L1:

    Transcription factor 7-like 1 (T-cell specific, HMG-box)
    Hs.516297  [show with all ESTs]
    Unigene Representative Sequence: NM_031283
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282111(uc002soy.3) ENST00000494519 ENST00000442813 ENST00000490744

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    hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-759 hsa-miR-372 hsa-miR-93 hsa-miR-302b
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      QuantiTect SYBR Green Assays in human, mouse, rat TCF7L1
      QuantiFast Probe-based Assays in human, mouse, rat TCF7L1

    Additional mRNA sequence: 

    AB031046.1 BC058894.1 U15553.1 

    3 DOTS entries:

    DT.414325  DT.120936425  DT.100019854 

    Selected AceView cDNA sequences (see all 92):

    AA705286 AI088403 R54924 BU543840 AA488717 NM_031283 AA781057 BF593480 
    AI360140 BQ028737 AB031046 AI400422 AA320925 BX105465 AA180855 AI381557 
    AI199181 BF434361 BV179507 AA046103 AA782735 AI201657 BM682233 AI379860 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TCF7L1 expression in normal human tissues (normalized intensities)      TCF7L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCTTCTGT
    TCF7L1 Expression
    About this image


    TCF7L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
    TCF7L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCF7L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516297

    UniProtKB/Swiss-Prot: TF7L1_HUMAN, Q9HCS4
    Tissue specificity: Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF7L1: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TCF7L1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF7L1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TCF7L1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf7l11 , 5 transcription factor 7 like 1 (T cell specific, HMG more1, 5 90.32(n)1
    96.95(a)1
      6 (32.27 cM)5
    214151  NM_009332.31  NP_033358.21 
     726263785 
    chicken
    (Gallus gallus)
    Aves TCF7L11 transcription factor 7-like 1 (T-cell specific, HMG-box) 77.58(n)
    83.9(a)
      395230  XM_003643906.2  XP_003643954.2 
    lizard
    (Anolis carolinensis)
    Reptilia TCF7L16
    transcription factor 7-like 1 (T-cell specific, HM...
    77(a)
    1 ↔ 1
    GL343238.1(73726-147861)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3979692 transcription factor XTCF-3c 78.05(n)    AF287149.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY221031.12   -- 78.17(n)   30556  AY221031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pan6
    pangolin
    16(a)
    1 → many
    4(89956-134454)
    worm
    (Caenorhabditis elegans)
    Secernentea pop-16
    Protein POP-1 (pop-1) mRNA, complete cds
    28(a)
    1 → many
    I(2823468-2830293) WBGene00004077


    ENSEMBL Gene Tree for TCF7L1 (if available)
    TreeFam Gene Tree for TCF7L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for TCF7L1 gene
    LEF12  TCF72  TCF7L22  
    2 SIMAP similar genes for TCF7L1 using alignment to 3 protein entries:     TF7L1_HUMAN (see all proteins):
    TCF7L2    LEF1

    TCF7L1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TCF7L1 (see all 3959)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359384
    A breast cancer sample4--see VAR_0359382 T N mis40--------
    rs717646071,2
    C--85268159(+) TCTCA-/AAAAAA 1 -- int10--------
    rs713900571,2
    C--85319171(+) TCTCC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs38108221,2
    C,F,H--85358985(+) AGAAAC/GCAGAA 1 -- us2k114Minor allele frequency- G:0.33EA NS NA WA CSA 2448
    rs1835168591,2
    --85358988(+) AACCAG/TAAAAC 1 -- us2k10--------
    rs1889523131,2
    --85359027(+) AATAGC/TCATTG 1 -- us2k10--------
    rs1931025801,2
    --85359074(+) AGAAAA/TAAATG 1 -- us2k10--------
    rs1407601051,2
    C--85359087(+) TATAA-/TTTTTT 1 -- us2k10--------
    rs1842898001,2
    --85359326(+) TCTGAG/TGCTTT 1 -- us2k10--------
    rs1867488101,2
    --85359436(+) TTCCAA/GGCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TCF7L1 (85360533 - 85537511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TCF7L1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720294CNV Deletion23290073
    esv2720293CNV Deletion23290073
    esv2454284CNV Deletion19546169
    esv2015068CNV Deletion18987734
    esv1680148CNV Deletion17803354
    esv3927CNV Deletion18987735
    esv26672CNV Loss19812545
    esv5667CNV Loss19470904
    nsv834281CNV Loss17160897
    nsv834279CNV Loss17160897

    Human Gene Mutation Database (HGMD): TCF7L1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TCF7L1
    DNA2.0 Custom Variant and Variant Library Synthesis for TCF7L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604652    OMIM disorders: --

    18 diseases for TCF7L1:    About MalaCards
    thyroid cancer    basal cell carcinoma    osteoporosis    glioblastoma multiforme
    osteoarthritis    acute myeloid leukemia    bipolar disorder    breast and colorectal cancer
    thyroiditis    myeloid leukemia    colorectal cancer    leukemia
    prostate cancer    prostatitis    endotheliitis    cerebritis
    breast cancer    neuronitis


    TCF7L1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TCF7L1
    Human Genome Epidemiology (HuGE) Navigator: TCF7L1 (3 documents)

    Export disorders for TCF7L1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TCF7L1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with TCF7L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitomycin C resistance induced by TCF-3 overexpression in gastric cancer cell line MKN28 is associated with DT-diaphorase down- regulation. (PubMed id 11085512)1, 2, 3, 9 Sagara N. and Katoh M. (Cancer Res. 2000)
    2. A gene family of HMG-box transcription factors with homology to TCF- 1. (PubMed id 1741298)1, 2, 3 Castrop J.... Clevers H.C. (Nucleic Acids Res. 1992)
    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. (Am. J. Pathol. 1999)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (Mol. Psychiatry 2009)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. 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. (Genome Res. 2004)
    8. INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling. (PubMed id 19906297)1, 9 Filleur S....Wieland I. (Cancer Cell Int. 2009)
    9. Identification of replicative senescence-associated genes in human umbilical vein endothelial cells by an annealing control primer system. (PubMed id 18258400)1, 9 Kim T.W....Kim J.R. (Exp. Gerontol. 2008)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83439 HGNC: 11640 AceView: TCF7L1 Ensembl:ENSG00000152284 euGenes: HUgn83439
    ECgene: TCF7L1 Kegg: 83439 H-InvDB: TCF7L1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TCF7L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCF7L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCF7L1 gene:
    Search GeneIP for patents involving TCF7L1

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



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