| Summary | TCF2 encodes transcription factor 2, a liver-specific factor of the homeobox-containing basic helix-turn-helix family. The TCF2 protein is believed to form heterodimers with another liver-specific member of this transcription factor family, TCF1; depending on the TCF2 isoform, the result may be to activate or inhibit transcription of target genes. Mutation of TCF2 that disrupts normal function has been identified as the cause of MODY5 (Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated. |
| Evidence | Deletion in Abnormal Kidney Development
- Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT, Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT Solitary functioning kidney and diverse genital tract malformationsassociated with hepatocyte nuclear factor-1beta mutations. Kidney Int 2002 Apr;61(4):1243-51.
Mutation in Kidney Cystic Disease
- Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS Hepatocyte nuclear factor-1beta: a new kindred with renal cysts anddiabetes and gene expression in normal human development. J Am Soc Nephrol 2001 Oct;12(10):2175-80.
- Mache CJ, Preisegger KH, Kopp S, Ratschek M, Ring E De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystickidney disease. Pediatr Nephrol 2002 Dec;17(12):1021-6. Epub 2002 Nov 14.
Mutation in Abnormal Kidney Development
- Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT, Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT Abnormal nephron development associated with a frameshift mutation in thetranscription factor hepatocyte nuclear factor-1 beta. Kidney Int 2000 Mar;57(3):898-907.
- Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU The mutated human gene encoding hepatocyte nuclear factor 1beta inhibitskidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A 2000 Apr 25;97(9):4695-700.
- Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT, Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT Solitary functioning kidney and diverse genital tract malformationsassociated with hepatocyte nuclear factor-1beta mutations. Kidney Int 2002 Apr;61(4):1243-51.
Other key publications related to this gene
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