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TCF7L2

MIM.602228 10q25.3

Wednesday 7 November 2007

The TCL7L2 gene product is a high mobility group box-containing transcription factor implicated in blood glucose homeostasis. TCL7L2 acts through regulation of proglucagon (MIM.138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.

TCF-4 codes for a transcription factor that is a crucial member of the adenomatous polyposis coil (APC)/beta-catenin/T-cell factor (TCF).

The TCF4 (TCL7L2) gene product is a high mobility group box-containing transcription factor (see HMGs) implicated in blood glucose homeostasis.

TCF4 acts through regulation of proglucagon (MIM.138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.

Pathology

- variants in susceptibility to type II diabetes (MIM.125853)

References

- Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, Pembrey ME, Ben-Shlomo Y, Strachan DP, Power C, Jarvelin MR, McCarthy MI, Davey Smith G, Hattersley AT, Frayling TM. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet. 2007 Jun;80(6):1150-61. PMID: 17503332

- Duggirala, R.; Blangero, J.; Almasy, L.; Dyer, T. D.; Williams, K. L.; Leach, R. J.; O’Connell, P.; Stern, M. P. : Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am. J. Hum. Genet. 64: 1127-1140, 1999. PubMed ID : 10090898

- Duval, A.; Gayet, J.; Zhou, X.-P.; Iacopetta, B.; Thomas, G.; Hamelin, R. : Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability. Cancer Res. 59: 4213-4215, 1999. PubMed ID : 10485457