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 regul... See more...

Aliases for TCF7L1 Gene

Aliases for TCF7L1 Gene

  • Transcription Factor 7 Like 1 2 3 5
  • Transcription Factor 7-Like 1 (T-Cell Specific, HMG-Box) 2 3
  • HMG Box Transcription Factor 3 3 4
  • Transcription Factor 7-Like 1 3 4
  • TCF-3 3 4
  • TCF3 3 4

External Ids for TCF7L1 Gene

Previous HGNC Symbols for TCF7L1 Gene

  • TCF3

Previous GeneCards Identifiers for TCF7L1 Gene

  • GC00U990369
  • GC02P085318
  • GC02P085335
  • GC02P085272

Summaries for TCF7L1 Gene

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) is a Protein Coding gene. Diseases associated with TCF7L1 include Arrhythmogenic Right Ventricular Cardiomyopathy and Colorectal Cancer. Among its related pathways are Preimplantation Embryo and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is TCF7L2.

UniProtKB/Swiss-Prot Summary for TCF7L1 Gene

  • 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

Additional gene information for TCF7L1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCF7L1 Gene

Genomics for TCF7L1 Gene

GeneHancer (GH) Regulatory Elements for TCF7L1 Gene

Promoters and enhancers for TCF7L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCF7L1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF7L1

Top Transcription factor binding sites by QIAGEN in the TCF7L1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myb
  • GATA-3
  • Olf-1
  • RREB-1
  • STAT3
  • STAT5A

Genomic Locations for TCF7L1 Gene

Genomic Locations for TCF7L1 Gene
chr2:85,133,392-85,310,388
(GRCh38/hg38)
Size:
176,997 bases
Orientation:
Plus strand
chr2:85,360,533-85,537,511
(GRCh37/hg19)
Size:
176,979 bases
Orientation:
Plus strand

Genomic View for TCF7L1 Gene

Genes around TCF7L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF7L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF7L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF7L1 Gene

Proteins for TCF7L1 Gene

  • Protein details for TCF7L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCS4-TF7L1_HUMAN
    Recommended name:
    Transcription factor 7-like 1
    Protein Accession:
    Q9HCS4
    Secondary Accessions:
    • Q53R97
    • Q6PD70
    • Q9NP00

    Protein attributes for TCF7L1 Gene

    Size:
    588 amino acids
    Molecular mass:
    62631 Da
    Quaternary structure:
    • Binds the armadillo repeat of CTNNB1 and forms a stable complex.

neXtProt entry for TCF7L1 Gene

Post-translational modifications for TCF7L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCF7L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCF7L1 Gene

Domains & Families for TCF7L1 Gene

Gene Families for TCF7L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TCF7L1 Gene

Blocks:
  • CTNNB1 binding, N-teminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCF7L1 Gene

GenScript: Design optimal peptide antigens:
  • HMG box transcription factor 3 (TF7L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCS4

UniProtKB/Swiss-Prot:

TF7L1_HUMAN :
  • 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.
  • Belongs to the TCF/LEF family.
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.
Family:
  • Belongs to the TCF/LEF family.
genes like me logo Genes that share domains with TCF7L1: view

Function for TCF7L1 Gene

Molecular function for TCF7L1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TCF7L1 Gene

Gene Ontology (GO) - Molecular Function for TCF7L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding NAS 1741298
GO:0003682 chromatin binding IBA 21873635
GO:0003700 DNA-binding transcription factor activity NAS,IBA 1741298
GO:0008013 beta-catenin binding IBA,IEA 21873635
genes like me logo Genes that share ontologies with TCF7L1: view
genes like me logo Genes that share phenotypes with TCF7L1: view

Animal Models for TCF7L1 Gene

MGI Knock Outs for TCF7L1:

Animal Model Products

miRNA for TCF7L1 Gene

Targeted motifs for TCF7L1 Gene
HOMER Transcription Factor Regulatory Elements motif TCF7L1
  • Consensus sequence: ACATCAAAGG Submotif: canonical Cell Type: mES GEO ID: GSE11724

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for TCF7L1 Gene

Localization for TCF7L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF7L1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCF7L1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCF7L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,IEA 1741298
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TCF7L1: view

Pathways & Interactions for TCF7L1 Gene

genes like me logo Genes that share pathways with TCF7L1: view

Pathways by source for TCF7L1 Gene

Gene Ontology (GO) - Biological Process for TCF7L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization NAS 1741298
GO:0006355 regulation of transcription, DNA-templated NAS 1741298
GO:0006357 regulation of transcription by RNA polymerase II IBA,IEA 21873635
GO:0016055 Wnt signaling pathway IEA --
GO:0030111 regulation of Wnt signaling pathway NAS 1741298
genes like me logo Genes that share ontologies with TCF7L1: view

No data available for SIGNOR curated interactions for TCF7L1 Gene

Drugs & Compounds for TCF7L1 Gene

No Compound Related Data Available

Transcripts for TCF7L1 Gene

mRNA/cDNA for TCF7L1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCF7L1 Gene

No ASD Table

Relevant External Links for TCF7L1 Gene

GeneLoc Exon Structure for
TCF7L1

Expression for TCF7L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCF7L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCF7L1 Gene

This gene is overexpressed in Skin (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCF7L1 Gene



Protein tissue co-expression partners for TCF7L1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCF7L1

SOURCE GeneReport for Unigene cluster for TCF7L1 Gene:

Hs.516297

mRNA Expression by UniProt/SwissProt for TCF7L1 Gene:

Q9HCS4-TF7L1_HUMAN
Tissue specificity: Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium.

Evidence on tissue expression from TISSUES for TCF7L1 Gene

  • Lung(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with TCF7L1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF7L1 Gene

Orthologs for TCF7L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF7L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF7L1 31 30
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 97 (a)
OneToMany
TCF7L1 30
  • 89.56 (n)
BT.44249 31
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TCF7L1 31 30
  • 92.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tcf7l1 17 31 30
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Tcf7l1 30
  • 90.22 (n)
oppossum
(Monodelphis domestica)
Mammalia TCF7L1 31
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCF7L1 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCF7L1 31 30
  • 77.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCF7L1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf7l1 30
  • 70.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397969 30
zebrafish
(Danio rerio)
Actinopterygii tcf7l1b 31
  • 75 (a)
OneToMany
tcf7l1a 31 30
  • 70.05 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta pan 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pop-1 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11069 31
  • 37 (a)
OneToMany
Species where no ortholog for TCF7L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TCF7L1 Gene

ENSEMBL:
Gene Tree for TCF7L1 (if available)
TreeFam:
Gene Tree for TCF7L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCF7L1: view image

Paralogs for TCF7L1 Gene

Paralogs for TCF7L1 Gene

(2) SIMAP similar genes for TCF7L1 Gene using alignment to 3 proteins:

  • TF7L1_HUMAN
  • C9JPE3_HUMAN
  • Q53T87_HUMAN
genes like me logo Genes that share paralogs with TCF7L1: view

Variants for TCF7L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF7L1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
784988 Benign: not provided 85,283,531(+) T/A MISSENSE_VARIANT
VAR_035938 A breast cancer sample p.Thr147Asn
rs11547160 - p.Gly533Arg

Additional dbSNP identifiers (rs#s) for TCF7L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TCF7L1 Gene

Variant ID Type Subtype PubMed ID
dgv1944n106 CNV deletion 24896259
esv1680148 CNV deletion 17803354
esv2015068 CNV deletion 18987734
esv2454284 CNV deletion 19546169
esv26672 CNV loss 19812545
esv2720293 CNV deletion 23290073
esv2720294 CNV deletion 23290073
esv2843347 CNV deletion 24192839
esv3559722 CNV deletion 23714750
esv3559744 CNV deletion 23714750
esv3575266 CNV gain 25503493
esv3591529 CNV loss 21293372
esv3927 CNV loss 18987735
esv5667 CNV loss 19470904
nsv1072004 CNV deletion 25765185
nsv1152279 CNV deletion 26484159
nsv2809 CNV deletion 18451855
nsv521146 CNV gain 19592680
nsv582368 CNV loss 21841781
nsv834279 CNV loss 17160897
nsv834281 CNV loss 17160897
nsv834282 CNV gain 17160897
nsv956659 CNV deletion 24416366
nsv963630 CNV duplication 23825009

Variation tolerance for TCF7L1 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.11; 92.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCF7L1 Gene

Human Gene Mutation Database (HGMD)
TCF7L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCF7L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF7L1 Gene

Disorders for TCF7L1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TCF7L1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
colorectal cancer
  • crc
breast cancer
  • breast cancer, familial
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TCF7L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TCF7L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCF7L1 Gene

Publications for TCF7L1 Gene

  1. Mitomycin C resistance induced by TCF-3 overexpression in gastric cancer cell line MKN28 is associated with DT-diaphorase down-regulation. (PMID: 11085512) Sagara N … Katoh M (Cancer research 2000) 2 3 4 23 54
  2. Restricted high level expression of Tcf-4 protein in intestinal and mammary gland epithelium. (PMID: 9916915) Barker N … Clevers H (The American journal of pathology 1999) 3 4 23 54
  3. A gene family of HMG-box transcription factors with homology to TCF-1. (PMID: 1741298) Castrop J … Clevers H (Nucleic acids research 1992) 2 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PMID: 19308021) Ollila HM … Paunio T (Molecular psychiatry 2009) 3 41 54

Products for TCF7L1 Gene

Sources for TCF7L1 Gene