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Tcf7l2

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Tcf7l2

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

PDB rendering based on 1jdh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; TCF-4; TCF4
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Transcription factor 7-like 2 (T-cell specific, HMG-box) also known as TCF7L2 or TCF4 is a protein acting as a transcription factor. In humans this protein is encoded by the TCF7L2 gene.[1][2] The single nucleotide polymorphism (SNP) within the TCF7L2 gene, rs7903146, is, to date, the most significant genetic marker[3] associated with Type 2 diabetes mellitus (T2DM) risk. SNPs in this gene are linked to higher risk to develop type 2 diabetes,[4] as well as gestational diabetes.[5]

Structure of complex between TCF7L2 (orange), β-catenin (red), and BCL9 (brown).[6]

Function

TCF7L2 is a transcription factor influencing the transcription of several genes thereby exerting a large variety of functions within the cell. It is a member of the Wnt signaling pathway. Stimulation of the pathway leads to the association of β-catenin with BCL9, translocation to the nucleus, and association with TCF7L2,[7] which in turn results in the activation of Wnt target genes, specifically repressing proglucagon synthesis in enteroendocrine cells.[4][8]

Disease implications

TCF7L2 is implicated in a large variety of diseases. Several single nucleotide polymorphisms are associated with type 2 diabetes. In European populations it was found to be a major determinant of type 2 risk.[4]

A frameshift mutation of TCF7L2 is implicated in colorectal cancer.[9][10] Variants of the gene are most likely involved in many other cancer types.[11]

Name confusion

While TCF4 is sometimes used as an alias symbol for TCF7L2, it is also the symbol officially approved by the HUGO Gene Nomenclature Committee for the transcription factor 4 gene.

See also

References

  1. ^ "Entrez Gene: TCF7L2". 
  2. ^ Castrop J, van Norren K, Clevers H (February 1992). "A gene family of HMG-box transcription factors with homology to TCF-1". Nucleic Acids Res. 20 (3): 611.  
  3. ^ http://www.ncbi.nlm.nih.gov/pubmed/22872755
  4. ^ a b c Jin T, Liu L (November 2008). "The Wnt signaling pathway effector TCF7L2 and type 2 diabetes mellitus". Mol. Endocrinol. 22 (11): 2383–92.  
  5. ^ Zhang, C.; Bao, W.; Rong, Y.; Yang, H.; Bowers, K.; Yeung, E.; Kiely, M. (2013). "Genetic variants and the risk of gestational diabetes mellitus: A systematic review". Human Reproduction Update 19 (4): 376.  
  6. ^  
  7. ^ Lee JM, Dedhar S, Kalluri R, Thompson EW (March 2006). "The epithelial-mesenchymal transition: new insights in signaling, development, and disease". J. Cell Biol. 172 (7): 973–81.  
  8. ^ Online 'Mendelian Inheritance in Man' (OMIM) 602228
  9. ^ Slattery ML, Folsom AR, Wolff R, Herrick J, Caan BJ, Potter JD (April 2008). "Transcription factor 7-like 2 polymorphism and colon cancer". Cancer Epidemiol. Biomarkers Prev. 17 (4): 978–82.  
  10. ^ Hazra A, Fuchs CS, Chan AT, Giovannucci EL, Hunter DJ (November 2008). "Association of the TCF7L2 polymorphism with colorectal cancer and adenoma risk". Cancer Causes Control 19 (9): 975–80.  
  11. ^ Tang W, Dodge M, Gundapaneni D, Michnoff C, Roth M, Lum L (July 2008). "A genome-wide RNAi screen for Wnt/beta-catenin pathway components identifies unexpected roles for TCF transcription factors in cancer". Proc. Natl. Acad. Sci. U.S.A. 105 (28): 9697–702.  

Further reading

External links

  • TCF7L2 here called TCF4 features on this Wnt pathway web site: Wnt signalling molecules TCFs
  • Structure determination of TCF7L2: PDB entry 2GL7 and related publication on PubMed
  • PubMed GeneRIFs (summaries of related scientific publications) - [3]
  • Weizmann Institute GeneCard for TCF7L2
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