Gene Symbol: Hnf1b
Description: HNF1 homeobox B
Alias: HNF-1-beta, HNF-1B, LF-B3, Tcf2, VHNF1, hepatocyte nuclear factor 1-beta, Transcription factor 2, hepatic, variant hepatic nuclear factor 1
Species: rat
Products:     Hnf1b

Top Publications

  1. Senkel S, Lucas B, Klein Hitpass L, Ryffel G. Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Biochim Biophys Acta. 2005;1731:179-90 pubmed
    Hepatocyte nuclear factor 1beta (HNF1beta, TCF2) is a tissue-specific transcription factor whose mutation in humans leads to renal cysts, genital malformations, pancreas atrophy and maturity onset diabetes of the young (MODY5)...
  2. Cereghini S, Ott M, Power S, Maury M. Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles. Development. 1992;116:783-97 pubmed
    The homeoproteins HNF1 (LFB1/HNF1-A) and vHNF1 (LFB3/HNF1 beta) interact with an essential control element of a group of liver-specific genes...
  3. Lokmane L, Heliot C, Garcia Villalba P, Fabre M, Cereghini S. vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development. 2010;137:347-57 pubmed publisher
    ..Here, we identify the transcription factor vHNF1 (HNF1beta) as a crucial regulator of these early developmental events...
  4. Coffinier C, Thepot D, Babinet C, Yaniv M, Barra J. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development. 1999;126:4785-94 pubmed
    b>vHNF1/HNF1beta, a member of the divergent HNF1/vHNF1 homeoprotein family, is expressed in polarized epithelia of several adult organs and may participate in controlling the transcription of specific genes...
  5. Barbacci E, Reber M, Ott M, Breillat C, Huetz F, Cereghini S. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development. 1999;126:4795-805 pubmed
    ..We show that variant Hepatocyte Nuclear Factor 1 (vHNF1), a homeodomain-containing transcription factor first expressed in the primitive endoderm, is required for the ..
  6. Wu G, Bohn S, Ryffel G. The HNF1beta transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations. Eur J Biochem. 2004;271:3715-28 pubmed
    ..We conclude that HNF1beta has some distinct morphogenetic properties during nephrogenesis. ..
  7. Wang L, Coffinier C, Thomas M, Gresh L, Eddu G, Manor T, et al. Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release. Endocrinology. 2004;145:3941-9 pubmed
    Hepatocyte nuclear factor 1alpha (HNF1alpha) and HNF1beta (or vHNF1) are closely related transcription factors expressed in liver, kidney, gut, and pancreatic beta-cells. Many HNF1 target genes are involved in carbohydrate metabolism...
  8. de Simone V, De Magistris L, Lazzaro D, Gerstner J, Monaci P, Nicosia A, et al. LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia. EMBO J. 1991;10:1435-43 pubmed
    ..LFB3 and LFB1 are expressed in the epithelial component of many organs of endodermal and mesodermal origin, suggesting that they may play a more general role associated with the differentiation of specialized epithelia. ..
  9. Hiesberger T, Shao X, Gourley E, Reimann A, Pontoglio M, Igarashi P. Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. J Biol Chem. 2005;280:10578-86 pubmed
    ..Expression of HNF-1alpha in proximal tubules may protect against cystogenesis. ..

More Information


  1. Mouchel N, Henstra S, McCarthy V, Williams S, Phylactides M, Harris A. HNF1alpha is involved in tissue-specific regulation of CFTR gene expression. Biochem J. 2004;378:909-18 pubmed
    ..This is the first report of a transcription factor, which confers tissue specificity on the expression of this important disease-associated gene. ..
  2. Kyrmizi I, Hatzis P, Katrakili N, Tronche F, Gonzalez F, Talianidis I. Plasticity and expanding complexity of the hepatic transcription factor network during liver development. Genes Dev. 2006;20:2293-305 pubmed
    ..The results illustrate the remarkable flexibility of a self-sustaining transcription factor network, built up by complex dominant and redundant regulatory motifs in developing hepatocytes. ..
  3. Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab. 2009;94:2658-64 pubmed publisher
    b>HNF1B-maturity-onset diabetes of the young is caused by abnormalities in the HNF1B gene encoding the transcription factor HNF-1beta...
  4. Harries L, Brown J, Gloyn A. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS ONE. 2009;4:e7855 pubmed publisher
    The HNF1A, HNF1B and HNF4A genes are part of an autoregulatory network in mammalian pancreas, liver, kidney and gut...
  5. Saad Y, Garrett M, Manickavasagam E, Yerga Woolwine S, Farms P, Radecki T, et al. Fine-mapping and comprehensive transcript analysis reveals nonsynonymous variants within a novel 1.17 Mb blood pressure QTL region on rat chromosome 10. Genomics. 2007;89:343-53 pubmed
    ..Therefore, the present work defines a novel blood pressure QTL with three potential quantitative trait nucleotides...
  6. Drews C, Senkel S, Ryffel G. The nephrogenic potential of the transcription factors osr1, osr2, hnf1b, lhx1 and pax8 assessed in Xenopus animal caps. BMC Dev Biol. 2011;11:5 pubmed publisher
    ..and the first expressed genes localized in the pronephros anlage are the transcription factors osr1, osr2, hnf1b, lhx1 and pax8, here referred to as the early nephrogenic transcription factors...
  7. Blumenfeld M, Maury M, Chouard T, Yaniv M, Condamine H. Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in developing mouse. Development. 1991;113:589-99 pubmed
    ..These experiments show that, even though the HNF1 homeo-protein is essential for expression of many liver-specific genes, it cannot, by itself, force high expression levels of these genes, in non-hepatic tissues. ..
  8. Borlak J, Dangers M, Thum T. Aroclor 1254 modulates gene expression of nuclear transcription factors: implications for albumin gene transcription and protein synthesis in rat hepatocyte cultures. Toxicol Appl Pharmacol. 2002;181:79-88 pubmed
  9. Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, et al. HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum Mol Genet. 2004;13:3139-49 pubmed
    Mutations in the HNF1beta gene, encoding the dimeric POU-homeodomain transcription factor HNF1beta (TCF2 or vHNF1), cause various phenotypes including maturity onset diabetes of the young 5 (MODY5), and abnormalities in kidney, pancreas ..
  10. Berg D, Gupta A, Richardson M, O Brien L, Calnek D, Grinnell B. Negative regulation of inducible nitric-oxide synthase expression mediated through transforming growth factor-beta-dependent modulation of transcription factor TCF11. J Biol Chem. 2007;282:36837-44 pubmed
    ..Overall, our results demonstrate a novel mechanism by which iNOS expression is regulated in the context of inflammatory activation. ..
  11. Rey Campos J, Chouard T, Yaniv M, Cereghini S. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. 1991;10:1445-57 pubmed
    b>vHNF1 and HNF1 are two nuclear proteins that bind to an essential element in the promoter proximal sequences of albumin and of many other liver-specific genes...
  12. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach J, et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell. 1996;84:575-85 pubmed
    ..The resulting massive urinary glucose loss leads to energy and water wasting. HNF1-deficient mice may provide a model for human renal Fanconi syndrome...
  13. Pagan R, Sanchez A, Martin I, Llobera M, Fabregat I, Vilaro S. Effects of growth and differentiation factors on the epithelial-mesenchymal transition in cultured neonatal rat hepatocytes. J Hepatol. 1999;31:895-904 pubmed
    ..Moreover, the vimentin expression in these cultures seems to be independent of the mRNA levels of transcription factors associated with the differentiated liver phenotype. ..
  14. Hiesberger T, Bai Y, Shao X, McNally B, Sinclair A, Tian X, et al. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest. 2004;113:814-25 pubmed
    ..HNF-1beta directly regulates the transcription of Pkhd1, and inhibition of PKHD1 gene expression may contribute to the formation of renal cysts in humans with MODY5. ..
  15. Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide A, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet. 2006;15:2363-75 pubmed
    Heterozygous mutations in the HNF1beta/vHNF1/TCF2 gene cause maturity-onset diabetes of the young (MODY5), associated with severe renal disease and abnormal genital tract. Here, we characterize two fetuses, a 27-week male and a 31...
  16. Mendel D, Hansen L, Graves M, Conley P, Crabtree G. HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev. 1991;5:1042-56 pubmed
    ..These studies define a pair of homeo domain proteins that have the potential to interact to produce an embryologically complex pattern of gene expression. ..
  17. Torres Padilla M, Zernicka Goetz M. Role of TIF1alpha as a modulator of embryonic transcription in the mouse zygote. J Cell Biol. 2006;174:329-38 pubmed
    ..These studies indicate that TIF1alpha is a factor that modulates the expression of a set of genes during the first wave of genome activation in the mouse embryo. ..
  18. Haumaitre C, Reber M, Cereghini S. Functions of HNF1 family members in differentiation of the visceral endoderm cell lineage. J Biol Chem. 2003;278:40933-42 pubmed
    The two members of the hepatocyte nuclear factor 1 (HNF1) transcription factor family, HNF1 and variant HNF1 (vHNF1), show a strong homology in their atypical POU-homeodomain and dimerization domain but differ in their transactivation ..
  19. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri G, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006;17:2864-70 pubmed
    ..inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), ..
  20. Tanaka M, Nakae S, Terry R, Mokhtari G, Gunawan F, Balsam L, et al. Cardiomyocyte-specific Bcl-2 overexpression attenuates ischemia-reperfusion injury, immune response during acute rejection, and graft coronary artery disease. Blood. 2004;104:3789-96 pubmed
    ..In conclusion, our findings suggest that the modulation of Bcl-2 expression by pharmacologic up-regulation or gene transfer may be of clinical benefit in the short- and long-term function of cardiac allografts. ..
  21. Sirbu I, Gresh L, Barra J, Duester G. Shifting boundaries of retinoic acid activity control hindbrain segmental gene expression. Development. 2005;132:2611-22 pubmed
    ..widespread induction up to r4 and for r3/r5 repression, but RA has previously been detected only from r5-r8, and vHnf1 is required for repression of Hoxb1 posterior to r4 in zebrafish...
  22. Bellanne Chantelot C, Chauveau D, Gautier J, Dubois Laforgue D, Clauin S, Beaufils S, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med. 2004;140:510-7 pubmed
  23. Bach I, Mattei M, Cereghini S, Yaniv M. Two members of an HNF1 homeoprotein family are expressed in human liver. Nucleic Acids Res. 1991;19:3553-9 pubmed
    ..Sequence comparison of our clone with a rat variant HNF1 (vHNF1) clone, isolated in parallel in our laboratory from the dedifferentiated H5 hepatoma cell line, identified our ..
  24. Qian C, Knol J, Igarashi P, Lin F, Zylstra U, Teh B, et al. Cystic renal neoplasia following conditional inactivation of apc in mouse renal tubular epithelium. J Biol Chem. 2005;280:3938-45 pubmed
    ..Our results confirm an important role for proper regulation of Wnt/beta-catenin signaling in renal development and provide evidence that dysregulation of the pathway can initiate tumorigenesis in the kidney. ..
  25. del Castillo G, Alvarez Barrientos A, Carmona Cuenca I, Fernandez M, Sánchez A, Fabregat I. Isolation and characterization of a putative liver progenitor population after treatment of fetal rat hepatocytes with TGF-beta. J Cell Physiol. 2008;215:846-55 pubmed publisher
    ..In summary, our results support the hypothesis that hepatocytes can function as facultative liver stem cells and demonstrate that TGF-beta might play an essential role in the transdifferentiation process. ..
  26. Xu E, Perlina A, Vu H, TROTH S, Brennan R, Aslamkhan A, et al. Integrated pathway analysis of rat urine metabolic profiles and kidney transcriptomic profiles to elucidate the systems toxicology of model nephrotoxicants. Chem Res Toxicol. 2008;21:1548-61 pubmed publisher
    ..Furthermore, this analysis suggests that renal transcription factors HNF1alpha, HNF1beta, and HIF-1 might be the central mediators of drug-induced kidney injury and adaptive response pathways. ..
  27. Maestro M, Boj S, Luco R, Pierreux C, Cabedo J, Servitja J, et al. Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Hum Mol Genet. 2003;12:3307-14 pubmed
    ..These findings define a precursor cellular stage of the embryonic pancreas and place Hnf1beta in a genetic hierarchy that regulates the generation of pancreatic endocrine cells. ..
  28. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000;57:898-907 pubmed
  29. Sanchez A, Alvarez A, Pagan R, Roncero C, Vilaro S, Benito M, et al. Fibronectin regulates morphology, cell organization and gene expression of rat fetal hepatocytes in primary culture. J Hepatol. 2000;32:242-50 pubmed
    ..These results suggest that fibronectin might play a differential role, as compared to other extracellular matrix proteins, in fetal hepatocyte organization and gene expression. ..
  30. Edghill E, Oram R, Owens M, Stals K, Harries L, Hattersley A, et al. Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Nephrol Dial Transplant. 2008;23:627-35 pubmed
    ..Patients with features suggestive of the HNF-1beta clinical phenotype should be tested for mutations both by sequence and dosage analysis. ..
  31. Ogata K, Shimamura Y, Hamada K, Hisa M, Bun M, Okada N, et al. Upregulation of HNF-1? during experimental acute kidney injury plays a crucial role in renal tubule regeneration. Am J Physiol Renal Physiol. 2012;303:F689-99 pubmed publisher
    ..Therefore, the current study unravels the physiological and pathological significance of the HNF-1? pathway in AKI. ..
  32. Chouard T, Jeannequin O, Rey Campos J, Yaniv M, Traincard F. A set of polyclonal and monoclonal antibodies reveals major differences in post-translational modification of the rat HNF1 and vHNF1 homeoproteins. Biochimie. 1997;79:707-15 pubmed
    The related homeodomain-containing transcription factors HNF1 (HNF1 alpha) and vHNF1 (HNF1 beta) recognise common target DNA sequences in the regulatory regions of many genes and are expressed in several parenchymal cell types, ..
  33. Cheret C, Doyen A, Yaniv M, Pontoglio M. Hepatocyte nuclear factor 1 alpha controls renal expression of the Npt1-Npt4 anionic transporter locus. J Mol Biol. 2002;322:929-41 pubmed
    ..Transient transfection experiments confirmed that HNF1alpha directly transactivates the Npt1 promoter and that the HSS3 region contributes to this activation. ..
  34. Smith A, Radice G, Lang R. Which FGF ligands are involved in lens induction?. Dev Biol. 2010;337:195-8 pubmed publisher
  35. Domínguez López A, Miliar Garcia A, Segura Kato Y, Riba L, Esparza López R, Ramírez Jiménez S, et al. Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families. JOP. 2005;6:238-45 pubmed
    ..No other mutation was identified in this cohort indicating that abnormalities in MODY genes are generally not a common cause of early-onset diabetes and this includes MODY families in Mexico. ..
  36. Rhoads D, Rosenbaum D, Unsal H, Isselbacher K, Levitsky L. Circadian periodicity of intestinal Na+/glucose cotransporter 1 mRNA levels is transcriptionally regulated. J Biol Chem. 1998;273:9510-6 pubmed
    ..Because SGLT1 mRNA levels also varied in rhesus monkeys (offset by approximately one-half day from rats), a similar mechanism appears to be present in primates. ..
  37. Iwasaki N, Okabe I, Momoi M, Ohashi H, Ogata M, Iwamoto Y. Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia. 2001;44:387-8 pubmed
  38. Kim F, Sing l A, Kaneko T, Bieman M, Stallwood N, Sadl V, et al. The vHNF1 homeodomain protein establishes early rhombomere identity by direct regulation of Kreisler expression. Mech Dev. 2005;122:1300-9 pubmed
    ..variant Hepatocyte Nuclear Factor 1 (vHNF1/HNF1beta/LF-3B) is transiently expressed in the r5/r6 domain of 0-10 somite stage embryos and a vHNF1binding site ..