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HNF1 homeobox B

Hepatocyte Nuclear Factor 1-beta, HNF-1beta, TCF2, MODY5
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: TCF, HNF1, Insulin, HAD, CAN
Papers on Hepatocyte Nuclear Factor 1-beta
Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.
Okochi et al., Tokyo, Japan. In J Diabetes Investig, Sep 2015
In the course of differentiation from MODY5-iPS cells into pancreatic β-cells, we examined the disease gene, HNF1B messenger ribonucleic acid.
The art of magnesium transport.
de Baaij, Nijmegen, Netherlands. In Magnes Res, Sep 2015
Indeed, patients with PCBD1 mutations were shown to suffer hypomagnesemia and MODY5-like diabetes.
HNF1B-associated clinical phenotypes: the kidney and beyond.
Jaureguiberry et al., London, United Kingdom. In Pediatr Nephrol, Aug 2015
HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5.
Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
Haumaitre et al., Paris, France. In Development, Apr 2015
Heterozygous mutations in the human HNF1B gene are associated with maturity-onset diabetes of the young type 5 (MODY5) and pancreas hypoplasia.
Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5).
Park et al., Seoul, South Korea. In Genomics Inform, 2014
Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion.
A review on hepatocyte nuclear factor-1beta and tumor.
Wei et al., Shanghai, China. In Cell Biosci, 2014
Mutations in the HNF1β gene cause maturity-onset diabetes of the young type 5 (MODY5), renal cysts, genital malformations, and pancreas atrophy.
The Association of Type 2 Diabetes Loci Identified in Genome-Wide Association Studies with Metabolic Syndrome and Its Components in a Chinese Population with Type 2 Diabetes.
Yang et al., Beijing, China. In Plos One, 2014
Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05).
HNF1B polymorphism influences the prognosis of endometrial cancer patients: a cohort study.
Palomba et al., Reggio nell'Emilia, Italy. In Bmc Cancer, 2014
BACKGROUND: HNF1B (formerly known as TCF2) gene encodes for a transcription factor that regulates gene expression involved in normal mesodermal and endodermal developments.
Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.
Młynarski et al., Łódź, Poland. In Endokrynol Pol, 2014
INTRODUCTION: Hepatocyte transforming factor 1B-maturity onset diabetes mellitus of the young (HNF1B-MODY) is an autosomal dominant type of monogenic diabetes caused by a mutation in the gene encoding hepatocyte nuclear factor 1beta (HNF-1beta).
Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis.
Freedman et al., Boston, United States. In Proc Natl Acad Sci U S A, 2012
NUDT11, HNF1B, and SLC22A3 genes have roles in prostate cancer pathogenesis
Molecular mechanisms linking endometriosis under oxidative stress with ovarian tumorigenesis and therapeutic modalities.
Kobayashi et al., Nara, Japan. In Cancer Invest, 2012
HNF-1beta appears to play a key role in anti-oxidative defense mechanisms.
Regulation of tissue-specific expression of renal organic anion transporters by hepatocyte nuclear factor 1 α/β and DNA methylation.
Sugiyama et al., Tokyo, Japan. In J Pharmacol Exp Ther, 2012
role of HNF1alpha/beta in the transcriptional regulation of organic anion transporters and highlighted DNA methylation-dependent gene silencing as one of the mechanisms underlying the tissue-specific transactivation by this master regulator.
Genetic basis of prune belly syndrome: screening for HNF1β gene.
Baker et al., Dallas, United States. In J Urol, 2012
One genomic HNF1beta mutation was detected in 3% of patients with prune belly syndrome but found to be functionally normal. Thus, functionally significant HNF1beta mutations are uncommon in prune belly syndrome, despite case reports of HNF1beta deletions
Expression of renal cystic genes in patients with HNF1B mutations.
Chauveau et al., Toulouse, France. In Nephron Clin Pract, 2011
As compared to controls, no difference was observed in the urinary mRNA amount of HNF1B and the renal cystic genes
HNF1B and endometrial cancer risk: results from the PAGE study.
Kooperberg et al., Los Angeles, United States. In Plos One, 2011
HNF1B SNPs are associated with risk of endometrial cancer and the associated relative risks are similar for Type I and Type II tumors.
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
Chen et al., Beijing, China. In Chin Med J (engl), 2010
The detection rate of TCF2 anomalies was 9.7% and varied considerably among MODY (1.4%), renal structure anomalies (RSA) (21.4%) and RSA with MODY (41.2%) subgroups.
A mitotic transcriptional switch in polycystic kidney disease.
Pontoglio et al., Paris, France. In Nat Med, 2010
Hepatocyte nuclear factor-1beta (HNF-1beta) is a transcription factor required for the expression of several renal cystic genes and whose prenatal deletion leads to polycystic kidney disease (PKD).
Multiple loci identified in a genome-wide association study of prostate cancer.
Chanock et al., Bethesda, United States. In Nat Genet, 2008
In the combined joint analysis, we confirmed three previously reported loci (two independent SNPs at 8q24 and one in HNF1B (formerly known as TCF2 on 17q); P < 10(-10)).
Genetic control of single lumen formation in the zebrafish gut.
Stainier et al., San Francisco, United States. In Nat Cell Biol, 2007
Data show that zebrafish mutants for Tcf2 fail to specify a single lumen in their gut tube and instead develop multiple lumens, and show that Tcf2 controls single lumen formation by regulating claudin15 and Na+/K+-ATPase expression.
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
Stefansson et al., Reykjavík, Iceland. In Nat Genet, 2007
Two variants on chromosome 17q contribute to the risk of prostate cancer in 4 populations, one of the variants is in TCF2 confers protection against type 2 diabetes.
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