Gene: HNF1B

Alternate names for this Gene: FJHN|HNF-1-beta|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF-2|TCF2|VHNF1

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: HNF1 homeobox B

Type of Gene: protein-coding

rs12601991 in HNF1B gene and Adenocarcinoma of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and Adenocarcinoma of lung (disorder) PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11651052 in HNF1B gene and Benign Prostatic Hyperplasia PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs11651052 in HNF1B gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs12601991 in HNF1B gene and Breast Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11651755 in HNF1B gene and Clear cell adenocarcinoma of ovary PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs12601991 in HNF1B gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs12601991 in HNF1B gene and Colorectal Neoplasms PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs10908278 in HNF1B gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 12161522 2002 The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5.

PMID 21874001 2011 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 22961080 2013 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10908278 in HNF1B gene and Endometrial Carcinoma PMID 21499250 2011 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

PMID 27135401 2016 Five endometrial cancer risk loci identified through genome-wide association analysis.

PMID 27008869 2016 GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.

PMID 21499250 2011 We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.

rs4430796 in HNF1B gene and Endometrial Neoplasms PMID 21499250 2011 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

rs12601991 in HNF1B gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs757210 in HNF1B gene and Epithelial ovarian cancer PMID 25581431 2015 Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

rs11651052 in HNF1B gene and Lower Urinary Tract Symptoms PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs12601991 in HNF1B gene and Malignant neoplasm of large intestine PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs757210 in HNF1B gene and Malignant neoplasm of ovary PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

rs3744763 in HNF1B gene and Malignant neoplasm of prostate PMID 18264097 2008 Multiple newly identified loci associated with prostate cancer susceptibility.

PMID 18264096 2008 Multiple loci identified in a genome-wide association study of prostate cancer.

PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

PMID 20676098 2010 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.

rs12601991 in HNF1B gene and Malignant tumor of colon PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs4430796 in HNF1B gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs11651755 in HNF1B gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs11263763 in HNF1B gene and Prostate carcinoma PMID 26034056 2015 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.

PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

PMID 27262462 2016 Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 24740154 2014 Genome-wide association scan for variants associated with early-onset prostate cancer.

PMID 17603485 2007 Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

PMID 31562322 2019 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.

PMID 26443449 2015 Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.

PMID 18264096 2008 Multiple loci identified in a genome-wide association study of prostate cancer.

PMID 18264097 2008 Multiple newly identified loci associated with prostate cancer susceptibility.

PMID 20676098 2010 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.

PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

PMID 25939597 2015 Two susceptibility loci identified for prostate cancer aggressiveness.

rs11263761 in HNF1B gene and Prostate specific antigen measurement PMID 28139693 2017 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

PMID 21160077 2010 Genetic correction of PSA values using sequence variants associated with PSA levels.

PMID 21160077 2010 Overall, we detected a genome-wide significant association between PSA levels and single-nucleotide polymorphisms (SNPs) at six loci: 5p15.33 (rs2736098), 10q11 (rs10993994), 10q26 (rs10788160), 12q24 (rs11067228), 17q12 (rs4430796), and 19q13.33 [rs17632542 (KLK3: I179T)], each with P(combined) <3 × 10(-10).

rs1057517744 in HNF1B gene and Renal cysts and diabetes syndrome PMID 27234567 2016 Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

PMID 21380624 2011 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PMID 25536396 2015 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 24897035 2014 The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

PMID 16249435 2005 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.

PMID 25700310 2015 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

PMID 11085914 2001 Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.

PMID 17878605 2007 In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation.

PMID 12161522 2002 Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.

PMID 15181075 2004 Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

PMID 11845238 2002 Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PMID 15001636 2004 Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.

PMID 14583183 2004 Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PMID 10484768 1999 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.

PMID 11918730 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PMID 10672455 2000 Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PMID 25441779 2015 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.

PMID 20378641 2010 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

PMID 15660195 2004 Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.

PMID 29927023 2018 Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

PMID 11317673 2001 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.

PMID 12675839 2003 Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

PMID 19389850 2009 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

PMID 26319241 2016 Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

PMID 25500806 2015 Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.

PMID 15509593 2004 HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

PMID 26417411 2015 These results suggest that these R177X mutant messenger ribonucleic acids are disrupted by nonsense-mediated messenger ribonucleic acid decay in MODY-iPS cells during the developmental stages of pancreatic β-cells.

PMID 12148114 2002 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.

PMID 9398836 1997 Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

PMID 30259503 2019 The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

PMID 24429398 2014 Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

PMID 26669242 2016 Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

PMID 16371430 2006 Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

rs12601991 in HNF1B gene and Squamous cell carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs7501939 in HNF1B gene and Testicular Germ Cell Tumor PMID 25877299 2015 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.

PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

rs11651755 in HNF1B gene and ovarian neoplasm PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.