- OMIM: 189 907
- UniProt: P35680
2 transcription factor (TCF -2), and hepatocyte nuclear factor 1 -beta ( HNF- 1B) or variant hepatic nuclear factor ( vHNF ) is a transcription factor in chordates. In humans, TCF -2 is expressed in many tissue types, but especially in the kidneys, pancreas, liver and Müllerian duct. TCF -2 contains a homeobox motif and plays a central role in the development of kidney and liver cells. Mutations in HNF1B gene can lead to rare hereditary MODY5, Mullerian aplasia, NIDDM or increased risk for prostate cancer.
In addition to its role in the development of the kidney has TCF -2 functions in the adult kidney: expression of the ATPase subunit FXYD2 is dependent on the presence of TCF -2, and defects in TCF -2 can show the phenotype of hypomagnesemia and the appropriate Hypermagnesurie. In ADPKD cystic kidneys the expression of TCF -2 is down-regulated, as well as in poisoned with cisplatin or gentamicin kidney. Similarly, the expression of the kinesin -like protein 12 ( Kif12 ) is dependent on functional TCF -2. Kif12 plays a role in the maintenance of cell polarity.
TCF -2 is upregulated in certain pancreatic tumors and in ovarian tumors that are resistant to cisplatin and paclitaxel; it therefore represents a potential diagnostic and therapeutic target