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Gene Review

HNF1B  -  HNF1 homeobox B

Homo sapiens

Synonyms: FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, ...
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Disease relevance of TCF2

  • These results suggest that TCF2 is involved in the development of ovarian cancers and may represent a useful target for their detection and treatment [1].
  • BACKGROUND: Mutations in the hepatocyte nuclear factor (HNF)-1beta gene (TCF2) are responsible for a syndrome characterized by maturity-onset diabetes of the young, a nondiabetic renal disease, genital malformations, and liver dysfunction [2].
  • These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease [3].
  • A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta [3].
  • Cotransfection of a HNF-1beta expression plasmid increased NNMT promoter activity significantly in both HNF-1beta-positive and -negative thyroid cancer cell lines and Hep G2 liver cancer cells [4].

Psychiatry related information on TCF2


High impact information on TCF2

  • Complementary to the loss-of-function phenotypes, overexpression of vhnf1 induces expansion of the val expression domain in the hindbrain [6].
  • In an insertional mutagenesis screen in zebrafish, we isolated mutant alleles of vhnf1 [6].
  • Inspection of enhancer mutants suggests that trans-activation by hLEF/GAL4 is especially dependent on TCF-2, a distinct T-cell-enriched protein that binds to sequences flanking the hLEF-binding site in the enhancer [7].
  • These studies identify a link between two cystic disease genes, HNF1beta (MODY5) and PKHD1 (ARPKD) [8].
  • Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice [8].

Chemical compound and disease context of TCF2


Biological context of TCF2

  • Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation [3].
  • The HNFs also play a central role in the tissue-specific regulation of gene expression in liver and kidney, suggesting that patients with MODY due to a mutation in HNF-1 alpha, HNF-1 beta, or HNF-4 alpha may exhibit abnormal liver or kidney function [13].
  • Analysis of the promoter and nine exons including intron-exon boundaries of the HNF-1beta gene revealed one novel silent polymorphism and three previously reported intronic variants [14].
  • Transfection assays with various deletions and mutants of the P2 promoter reveal functional binding sites for HNF-1alpha, HNF-1beta and IPF-1, the other transcription factors known to encode MODY genes [15].
  • Expression of an HNF-1beta C-terminal deletion mutant in transgenic mice produces renal cysts, increased cell proliferation, and dilatation of the ureter similar to mice with kidney-specific inactivation of HNF-1beta [16].

Anatomical context of TCF2


Associations of TCF2 with chemical compounds


Physical interactions of TCF2


Regulatory relationships of TCF2


Other interactions of TCF2


Analytical, diagnostic and therapeutic context of TCF2


  1. Epigenetic inactivation of TCF2 in ovarian cancer and various cancer cell lines. Terasawa, K., Toyota, M., Sagae, S., Ogi, K., Suzuki, H., Sonoda, T., Akino, K., Maruyama, R., Nishikawa, N., Imai, K., Shinomura, Y., Saito, T., Tokino, T. Br. J. Cancer (2006) [Pubmed]
  2. Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. Montoli, A., Colussi, G., Massa, O., Caccia, R., Rizzoni, G., Civati, G., Barbetti, F. Am. J. Kidney Dis. (2002) [Pubmed]
  3. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Lindner, T.H., Njolstad, P.R., Horikawa, Y., Bostad, L., Bell, G.I., Sovik, O. Hum. Mol. Genet. (1999) [Pubmed]
  4. Activation of nicotinamide N-methyltransferase gene promoter by hepatocyte nuclear factor-1beta in human papillary thyroid cancer cells. Xu, J., Capezzone, M., Xu, X., Hershman, J.M. Mol. Endocrinol. (2005) [Pubmed]
  5. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. Kolatsi-Joannou, M., Bingham, C., Ellard, S., Bulman, M.P., Allen, L.I., Hattersley, A.T., Woolf, A.S. J. Am. Soc. Nephrol. (2001) [Pubmed]
  6. vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Sun, Z., Hopkins, N. Genes Dev. (2001) [Pubmed]
  7. The hLEF/TCF-1 alpha HMG protein contains a context-dependent transcriptional activation domain that induces the TCR alpha enhancer in T cells. Carlsson, P., Waterman, M.L., Jones, K.A. Genes Dev. (1993) [Pubmed]
  8. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. Hiesberger, T., Bai, Y., Shao, X., McNally, B.T., Sinclair, A.M., Tian, X., Somlo, S., Igarashi, P. J. Clin. Invest. (2004) [Pubmed]
  9. Independent regulation of HNF-1 alpha and HNF-1 beta by retinoic acid in F9 teratocarcinoma cells. Kuo, C.J., Mendel, D.B., Hansen, L.P., Crabtree, G.R. EMBO J. (1991) [Pubmed]
  10. Mutations in the genes for hepatocyte nuclear factor (HNF)-1alpha, -4alpha, -1beta, and -3beta; the dimerization cofactor of HNF-1; and insulin promoter factor 1 are not common causes of early-onset type 2 diabetes in Pima Indians. Baier, L.J., Permana, P.A., Traurig, M., Dobberfuhl, A., Wiedrich, C., Sutherland, J., Thuillez, P., Luczy-Bachman, G., Hara, M., Horikawa, Y., Hinokio, Y., Hanson, R.L., Bogardus, C. Diabetes Care (2000) [Pubmed]
  11. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Bingham, C., Ellard, S., van't Hoff, W.G., Simmonds, H.A., Marinaki, A.M., Badman, M.K., Winocour, P.H., Stride, A., Lockwood, C.R., Nicholls, A.J., Owen, K.R., Spyer, G., Pearson, E.R., Hattersley, A.T. Kidney Int. (2003) [Pubmed]
  12. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Stride, A., Hattersley, A.T. Ann. Med. (2002) [Pubmed]
  13. Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Iwasaki, N., Ogata, M., Tomonaga, O., Kuroki, H., Kasahara, T., Yano, N., Iwamoto, Y. Diabetes Care (1998) [Pubmed]
  14. Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function. Ek, J., Grarup, N., Urhammer, S.A., Gaede, P.H., Drivsholm, T., Borch-Johnsen, K., Hansen, T., Pedersen, O. Hum. Mutat. (2001) [Pubmed]
  15. A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Thomas, H., Jaschkowitz, K., Bulman, M., Frayling, T.M., Mitchell, S.M., Roosen, S., Lingott-Frieg, A., Tack, C.J., Ellard, S., Ryffel, G.U., Hattersley, A.T. Hum. Mol. Genet. (2001) [Pubmed]
  16. Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. Hiesberger, T., Shao, X., Gourley, E., Reimann, A., Pontoglio, M., Igarashi, P. J. Biol. Chem. (2005) [Pubmed]
  17. Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Senkel, S., Lucas, B., Klein-Hitpass, L., Ryffel, G.U. Biochim. Biophys. Acta (2005) [Pubmed]
  18. Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells. Hu, C., Perlmutter, D.H. Am. J. Physiol. Lung Cell Mol. Physiol. (2002) [Pubmed]
  19. Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations. Brackenridge, A., Pearson, E.R., Shojaee-Moradie, F., Hattersley, A.T., Russell-Jones, D., Umpleby, A.M. Diabetes (2006) [Pubmed]
  20. Histone deacetylase inhibitor depsipeptide represses nicotinamide N-methyltransferase and hepatocyte nuclear factor-1beta gene expression in human papillary thyroid cancer cells. Xu, J., Hershman, J.M. Thyroid (2006) [Pubmed]
  21. Control of ACAT2 liver expression by HNF1. Pramfalk, C., Davis, M.A., Eriksson, M., Rudel, L.L., Parini, P. J. Lipid Res. (2005) [Pubmed]
  22. Nuclear factors and type 2 diabetes. Froguel, P. Schweizerische medizinische Wochenschrift. (1998) [Pubmed]
  23. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Bellanné-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.F., Jadoul, M., Laloi-Michelin, M., Jacquesson, L., Larger, E., Louis, J., Nicolino, M., Subra, J.F., Wilhem, J.M., Young, J., Velho, G., Timsit, J. Diabetes (2005) [Pubmed]
  24. Multiple hepatic trans-acting factors are required for in vitro transcription of the human alpha-1-antitrypsin gene. Li, Y., Shen, R.F., Tsai, S.Y., Woo, S.L. Mol. Cell. Biol. (1988) [Pubmed]
  25. Circadian periodicity of intestinal Na+/glucose cotransporter 1 mRNA levels is transcriptionally regulated. Rhoads, D.B., Rosenbaum, D.H., Unsal, H., Isselbacher, K.J., Levitsky, L.L. J. Biol. Chem. (1998) [Pubmed]
  26. Expression profiling in ovarian clear cell carcinoma: identification of hepatocyte nuclear factor-1 beta as a molecular marker and a possible molecular target for therapy of ovarian clear cell carcinoma. Tsuchiya, A., Sakamoto, M., Yasuda, J., Chuma, M., Ohta, T., Ohki, M., Yasugi, T., Taketani, Y., Hirohashi, S. Am. J. Pathol. (2003) [Pubmed]
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