Hepatocyte Nuclear Factor 1 Beta (HNF1b)

FJHN; TCF2; HNF1beta; HNF2; LFB3; LF-B3; MODY5; VHNF1; Transcription Factor 2,Hepatic; Variant Hepatic Nuclear Factor; Homeoprotein LFB3

SPN	P973
HGNC	11630
MGI	98505
PubMed	22299039
RGD	3830
UniProt	P35680
Wiki	HNF1B

TCF2 encodes transcription factor 2, a liver-specific factor of the homeobox-containing basic helix-turn-helix family. The TCF2 protein is believed to form heterodimers with another liver-specific member of this transcription factor family, TCF1; depending on the TCF2 isoform, the result may be to activate or inhibit transcription of target genes. Mutation of TCF2 that disrupts normal function has been identified as the cause of MODY5. A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated.The expression was most prominent in medullary and cortical collecting duct branches, which are ureteric bud derivatives. TCF2 gene expression was not detected in mesenchymal tissues, suggesting that it plays a role in epithelial differentiation.

Reference

"Two members of an HNF1 homeoprotein family are expressed in human liver."
Nucleic Acids Res. 19:3553-3559(1991) [PubMed] [Europe PMC] [Abstract]

"More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing."
EMBO J. 12:4229-4242(1993) [PubMed] [Europe PMC] [Abstract]

"Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY."
Nat. Genet. 17:384-385(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Hum. Mol. Genet. 8:2001-2008(1999) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the homeobox domain of hepatocyte nuclear factor 1-beta (HNF-1beta)."
Submitted (DEC-2006) to the PDB data bank

"Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta."
Biochemistry 46:12071-12080(2007) [PubMed] [Europe PMC] [Abstract]

"Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both."
Diabetologia 43:131-132(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY."
Diabetologia 45:154-155(2002) [PubMed] [Europe PMC] [Abstract]

"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations."
Kidney Int. 61:1243-1251(2002) [PubMed] [Europe PMC] [Abstract]

"Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese."
J. Clin. Endocrinol. Metab. 87:3859-3863(2002) [PubMed] [Europe PMC] [Abstract]

"Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy."
J. Diabetes Complications 17:369-373(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations."
Ann. Intern. Med. 140:510-517(2004) [PubMed] [Europe PMC] [Abstract]

"Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations."
J. Clin. Endocrinol. Metab. 89:1369-1378(2004) [PubMed] [Europe PMC] [Abstract]

"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."
J. Clin. Endocrinol. Metab. 89:2905-2908(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Diabetes 54:3126-3132(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in hepatocyte nuclear factor-1beta and their related phenotypes."
J. Med. Genet. 43:84-90(2006) [PubMed] [Europe PMC] [Abstract]

"Multiple newly identified loci associated with prostate cancer susceptibility."
Nat. Genet. 40:316-321(2008) [PubMed] [Europe PMC] [Abstract]