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Validated All-in-One™ qPCR Primer for HNF1B(NM_000458.3) Search again
Product ID:
HQP017955
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1
Gene Description:
HNF1 homeobox B
Target Gene Accession:
NM_000458.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a member of the transcription factor superfamily. The encoded protein forms heterodimers with another member of this transcription factor family, HNF1A. Multiple alternatively spliced transcript variants have been described, however the biological validity all of these variants needs to be determined. [provided by RefSeq].
Gene References into function
- variants 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
- an Italian family in which a syndrome of diabetes and severe non-diabetic renal disease is associated with a mutation in the HNF-1Beta gene
- Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY
- Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells.
- Solitary functioning kidney and diverse genital tract malformations associated with HNF-1beta mutations
- results confirm that the genetic variations in the HNF-1 beta gene would be a very uncommon cause of progressive nephropathy in patients with type 2 diabetes mellitus
- Renal cysts and diabetes syndrome with nonprogressive liver disorder are linked to mutations of the hepatocyte nuclear factor-1 beta gene.
- Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.
- Hyperuricemia and young-onset gout are consistent features of the phenotype associated with HNF-1beta mutations, but the mechanism is uncertain.
- Results suggest genetic variants in HNF-1beta are not a common cause of young-onset diabetes or diabetic nephropathy in Chinese, but may modify disease manifestation and progression.
- The reduction of HNF-1 beta expression by RNA interference induced apoptotic cell death in ovarian clear cell carcinoma cells.
- Altered mRNA expression is associated with prostate cancer recurrence.
- diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha
- HNF1B has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations.
- HNF-1beta functions as a transcription activator for NNMT gene expression in some papillary thyroid cancer cells
- These results suggest that sucrase-isomaltase transcription might be unchanged or lower in maturity-onset diabetes of the young (MODY) type 3, but greater in MODY5.
- the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain has a role in Pkhd1 (ARPKD) gene transcription and renal cystogenesis
- HNF-1beta gene mutations may be associated with nondiabetic renal dysfunction and diabetes in Chinese, but they are responsible for only a small percentage of early onset or multiple affected diabetes pedigrees including MODY.
- transcription factors hepatic nuclear factor 1 (HNF1)alpha and beta play an important part in the regulation of the ACAT2 promoter
- In 40 unrelated patients presenting with MODY5 phenotype, TCF2 was screened for mutations by sequencing.
- Results indicate that HNF-1beta is an excellent molecular marker for ovarian clear cell tumors.
- we propose that HNF1beta overexpression in the ovarian cancer participates in the altered expression pattern
- Subjects with HNF-1beta mutations have reduced insulin sensitivity of endogenous glucose production but normal peripheral insulin sensitivity in contrast to patients with HNF-1alpha mutations and normal controls.
- results suggest that TCF2 is involved in the development of ovarian cancers and may represent a useful target for their detection and treatment
- No mutation was identified in the HNF-1beta genes in Japanese patients with juvenile-onset (before 18 years of age) non-obese diabetes mellitus.
- depsipeptide represses NNMT and HNF-1beta gene expression in some papillary thyroid cancer cells
- both wild HNF-1alpha and wild HNF-1beta have a stimulatory effect on dipeptidylpeptidase IV gene expression, but that mutant HNF-1alpha and mutant HNF-1beta attenuate the stimulatory effect
- These results indicate that the tissue-specific expression of hOAT3 might be regulated by the concerted effect of genetic (HNF1alpha and HNF1beta) and epigenetic (DNA methylation) factors.
- Evidence of differential gene-dosage requirements for HNF1beta in normal human kidney and pancreas differentiation.
- Mutations in TCF2 is associated with renal hypodysplasia
- a key role for HNF-1beta in early pancreatic progenitor cells in man
- Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression.
- A study evaluating the extent to which common variation in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes is presented.
- TCF2 is a biological tumor marker for epithelial ovarian cancers.
- 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.
- R276X functions in a negative manner in regard to metabolic responses of insulin secretion in beta cells.
- no direct relationship between horseshoe kidney in TS and mutation or polymorphism of HNF-1beta gene, but we speculate that target gene(s) of HNF-1beta, likely mapped on the X chromosome, is/are responsible of the horseshoe kidney formation in TS.
- Findings implicate HNF1beta as a regulator of pancreas organogenesis and differentiation. [REVIEW]
- help us to understand the structural basis of promoter recognition by these atypical POU transcription factors and the site-specific functional disruption by disease-causing mutations
- the up-regulation of TCF11/MafG binding could be suppressed by overexpression of the TGF-beta inhibitor Smad7, and a small interfering RNA to TCF11 blocked the suppression of iNOS by TGF-beta.
- Whole HNF-1beta gene deletions are a common cause of developmental renal disease, particularly renal cystic
- Bilateral massively enlarged polycystic kidneys mimicking autosomal dominant polycystic kidney disease in young adults may be related to TCF2/HNF-1beta mutation.
- results indicate that mutations in EYA1 and TCF2 rarely result in an isolated Congenital anomalies of the kidney and urinary tract (CAKUT) phenotype.
- Hypomethylation of the HNF-1beta CpG island participates in the HNF-1beta up-regulation in ovarian clear cell carcinoma.
- HNF-1beta is likely to participate in osteopontin up-regulation in clear cell carcinoma .
- Three anaplastic papillary thyroid cancer cell lines expressed HNF-1beta.
- Theses studies show novel proteins may cooperate with HNF1beta in human metanephric development and propose that E4F1 and ZFP36L1 are congenital anomalies of the kidney and urinary tract genes.
- current literature is reviewed concerning the malformations that have been associated with transcription factor 2 gene mutations involving primarily the kidneys and occurring both in an isolated form and in association with other defective organs [review
- Hepatocyte nuclear factor-1beta is a useful marker to identify these clear cell pancreatic carcinomas.
- agenesis of the pancreatic body & tail and pancreatic exocrine dysfunction are parts of the phenotype in HNF1B mutation carriers; this strengthens the evidence for a critical role of HNF1B in development and differentiation of at least the dorsal pancrea
- Single nucleotide polymorphism in HNF1B gene is associated with prostate cancer.