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Aliases for TCF7L2 Gene

Aliases for TCF7L2 Gene

  • Transcription Factor 7-Like 2 (T-Cell Specific, HMG-Box) 2 3
  • TCF4 3 4 6
  • T-Cell-Specific Transcription Factor 4 3 4
  • HMG Box Transcription Factor 4 3 4
  • T-Cell Factor 4 3 4
  • HTCF-4 3 4
  • TCF-4 3 4
  • Transcription Factor 7-Like 2 3
  • T-Cell Factor-4 Variant X2 3
  • T-Cell Factor-4 Variant A 3
  • T-Cell Factor-4 Variant B 3
  • T-Cell Factor-4 Variant C 3
  • T-Cell Factor-4 Variant D 3
  • T-Cell Factor-4 Variant E 3
  • T-Cell Factor-4 Variant F 3
  • T-Cell Factor-4 Variant G 3
  • T-Cell Factor-4 Variant H 3
  • T-Cell Factor-4 Variant I 3
  • T-Cell Factor-4 Variant J 3
  • T-Cell Factor-4 Variant K 3
  • T-Cell Factor-4 Variant L 3
  • T-Cell Factor-4 Variant M 3

External Ids for TCF7L2 Gene

Previous Symbols for TCF7L2 Gene

  • TCF4

Summaries for TCF7L2 Gene

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 colorectal cancer and pitt-hopkins syndrome. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is TCF7.

UniProtKB/Swiss-Prot for TCF7L2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF7L2 Gene

Genomics for TCF7L2 Gene

Genomic Location for TCF7L2 Gene

Start:
112,950,219 bp from pter
End:
113,167,678 bp from pter
Size:
217,460 bases
Orientation:
Plus strand

Genomic View for TCF7L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCF7L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF7L2 Gene

Regulatory Elements for TCF7L2 Gene

Proteins for TCF7L2 Gene

  • Protein details for TCF7L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQB0-TF7L2_HUMAN
    Recommended name:
    Transcription factor 7-like 2
    Protein Accession:
    Q9NQB0
    Secondary Accessions:
    • B4DRJ8
    • B9X074
    • C6ZRJ8
    • C6ZRK0
    • E2GH14
    • E2GH19
    • E2GH20
    • E2GH24
    • E2GH25
    • E9PFH9
    • F8W742
    • F8W7T5
    • O00185
    • Q9NQB1
    • Q9NQB2
    • Q9NQB3
    • Q9NQB4
    • Q9NQB5
    • Q9NQB6
    • Q9NQB7
    • Q9ULC2

    Protein attributes for TCF7L2 Gene

    Size:
    619 amino acids
    Molecular mass:
    67919 Da
    Quaternary structure:
    • 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. The CTNNB1 and TCF7L2/TCF4 complex interacts with PML (isoform PML-4). Identified in a complex with CTNNB1 and FERMT2. Interacts with SPIN1.

    Three dimensional structures from OCA and Proteopedia for TCF7L2 Gene

neXtProt entry for TCF7L2 Gene

Proteomics data for TCF7L2 Gene at MOPED

Post-translational modifications for TCF7L2 Gene

  • In vitro, phosphorylated by TNIK.
  • 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.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys352 and Lys398

No data available for DME Specific Peptides for TCF7L2 Gene

Domains for TCF7L2 Gene

Protein Domains for TCF7L2 Gene

UniProtKB/Swiss-Prot:

TF7L2_HUMAN
Domain:
  • The promoter-specific activation domain interacts with the transcriptional coactivator EP300:
    • Q9NQB0
  • Contains 1 HMG box DNA-binding domain.:
    • Q9NQB0
Family:
  • Belongs to the TCF/LEF family.:
    • Q9NQB0
genes like me logo Genes that share domains with TCF7L2: view

No data available for Gene Families for TCF7L2 Gene

Function for TCF7L2 Gene

Molecular function for TCF7L2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for TCF7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 19443654
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 19443654
GO:0003682 chromatin binding IBA --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 9727977
GO:0005515 protein binding IPI 11713475
genes like me logo Genes that share ontologies with TCF7L2: view
genes like me logo Genes that share phenotypes with TCF7L2: view

Animal Models for TCF7L2 Gene

MGI Knock Outs for TCF7L2:

miRNA for TCF7L2 Gene

miRTarBase miRNAs that target TCF7L2
Targeting motifs for TCF7L2 Gene
HOMER Transcription Factor Regulatory Elements motif TCF7L2
  • Consensus sequence: ACATCAAAGGGA Submotif: canonical Cell Type: Hct116 GeoId: SRA012054

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for TCF7L2 Gene

Localization for TCF7L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF7L2 Gene

Nucleus, PML body. Note=Diffuse pattern. Colocalizes with SUMO1 and PIAS4 in a subset of PML (promyelocytic leukemia) nuclear bodies.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCF7L2 Gene COMPARTMENTS Subcellular localization image for TCF7L2 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TCF7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19443654
GO:0005634 nucleus IDA 16532032
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TCF7L2: view

Pathways for TCF7L2 Gene

genes like me logo Genes that share pathways with TCF7L2: view

Gene Ontology (GO) - Biological Process for TCF7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12799378
GO:0001568 blood vessel development IMP 15578569
GO:0005977 glycogen metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TCF7L2: view

Compounds for TCF7L2 Gene

(14) Novoseek inferred chemical compound relationships for TCF7L2 Gene

Compound -log(P) Hits PubMed IDs
proglucagon 66.6 1
mononucleotide 53.9 4
glycogen 50.7 4
glucose 47 11
sulindac 41.5 2

(2) PharmGKB related drug/compound annotations for TCF7L2 Gene

Drug/compound Annotation
"sulfonamides, urea derivatives" CA
repaglinide CA
genes like me logo Genes that share compounds with TCF7L2: view

Transcripts for TCF7L2 Gene

Unigene Clusters for TCF7L2 Gene

Transcription factor 7-like 2 (T-cell specific, HMG-box):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TCF7L2 Gene

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: -
SP6:
SP7:
SP8: - - - - -
SP9: -
SP10: - - -

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e
SP1: -
SP2: - -
SP3: - -
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TCF7L2 Gene

GeneLoc Exon Structure for
TCF7L2
ECgene alternative splicing isoforms for
TCF7L2

Expression for TCF7L2 Gene

mRNA expression in normal human tissues for TCF7L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TCF7L2 Gene

SOURCE GeneReport for Unigene cluster for TCF7L2 Gene Hs.593995

mRNA Expression by UniProt/SwissProt for TCF7L2 Gene

Q9NQB0-TF7L2_HUMAN
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.
genes like me logo Genes that share expressions with TCF7L2: view

Orthologs for TCF7L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF7L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF7L2 36
  • 99.07 (n)
  • 99.44 (a)
TCF7L2 37
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCFL2 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCF7L2 36
  • 93.63 (n)
  • 96.78 (a)
TCF7L2 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tcf7l2 36
  • 90.88 (n)
  • 97.65 (a)
Tcf7l2 16
Tcf7l2 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCF7L2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCF7L2 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tcf7l2 36
  • 88.95 (n)
  • 95.29 (a)
chicken
(Gallus gallus)
Aves TCF7L2 36
  • 87.35 (n)
  • 94.94 (a)
TCF7L2 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 94 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.11987 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5723 36
tcf7l2 36
  • 82.95 (n)
  • 95.39 (a)
zebrafish
(Danio rerio)
Actinopterygii tcf4 36
tcf7l2 36
  • 83.3 (n)
  • 95.84 (a)
tcf7l2 37
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pan 37
  • 18 (a)
OneToMany
pan 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea pop-1 37
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11069 37
  • 40 (a)
OneToMany
Species with no ortholog for TCF7L2:
  • 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 TCF7L2 Gene

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

Paralogs for TCF7L2 Gene

Paralogs for TCF7L2 Gene

genes like me logo Genes that share paralogs with TCF7L2: view

Variants for TCF7L2 Gene

Sequence variations from dbSNP and Humsavar for TCF7L2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs3635 -- 113,167,563(-) GAACT(C/T)GGAAT utr-variant-3-prime
rs13458 -- 113,040,107(+) GTCCC(A/C)ATCAC missense, reference, intron-variant
rs176632 -- 113,151,320(+) CACCG(C/T)GGGTT intron-variant
rs182533 -- 112,953,271(-) CATGT(C/T)TGGGC intron-variant
rs290474 -- 113,114,614(-) GAGTC(A/G)GTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCF7L2 Gene

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855
nsv7553 CNV Loss 18451855
esv2074123 CNV Deletion 18987734
nsv24033 CNV Loss 16902084
nsv527837 CNV Loss 19592680
nsv437693 CNV Loss 16327808

Relevant External Links for TCF7L2 Gene

HapMap Linkage Disequilibrium report
TCF7L2
Human Gene Mutation Database (HGMD)
TCF7L2

Disorders for TCF7L2 Gene

(1) OMIM Diseases for TCF7L2 Gene (602228)

UniProtKB/Swiss-Prot

TF7L2_HUMAN
  • 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 bodys 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. {ECO:0000269 PubMed:16415884, ECO:0000269 PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TCF7L2 Gene

(30) Novoseek inferred disease relationships for TCF7L2 Gene

Disease -log(P) Hits PubMed IDs
familial adenomatous polyposis 70.6 4
colon cancer 61.9 16
colorectal tumors 59.2 7
microsatellite instability 57.3 9
colorectal cancer 53.2 15

Relevant External Links for TCF7L2

Genetic Association Database (GAD)
TCF7L2
Human Genome Epidemiology (HuGE) Navigator
TCF7L2
genes like me logo Genes that share disorders with TCF7L2: view

Publications for TCF7L2 Gene

  1. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. (PMID: 16415884) Grant S.F.A. … Stefansson K. (Nat. Genet. 2006) 3 4 23 49
  2. Variant of transcription factor 7-like 2 (TCF7L2) gene and the risk of type 2 diabetes in large cohorts of U.S. women and men. (PMID: 16936216) Zhang C. … Hu F.B. (Diabetes 2006) 3 23 49
  3. Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample. (PMID: 16936217) Scott L.J. … Boehnke M. (Diabetes 2006) 3 23 49
  4. Polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in the Amish: replication and evidence for a role in both insulin secretion and insulin resistance. (PMID: 16936218) Damcott C.M. … Shuldiner A.R. (Diabetes 2006) 3 23 49
  5. Transcription factor TCF7L2 genetic study in the French population: expression in human beta-cells and adipose tissue and strong association with type 2 diabetes. (PMID: 17003360) Cauchi S. … Froguel P. (Diabetes 2006) 3 23 49

Products for TCF7L2 Gene

Sources for TCF7L2 Gene

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