|HNF1 homeobox B|
PDB rendering based on 2da6.
|Symbols||; FJHN; HNF-1B; HNF1beta; HNF2; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; VHNF1|
|RNA expression pattern|
HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene. 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 (Maturity-Onset of Diabetes, Type 5). 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.
- "Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor".
- Montoli A, Colussi G, Massa O, (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". Am. J. Kidney Dis. 40 (2): 397–402.
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- Mendel DB, Hansen LP, Graves MK, (1991). "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. 5 (6): 1042–56.
- Abbott C, Piaggio G, Ammendola R, (1991). "Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction". Genomics 8 (1): 165–7.
- Bach I, Yaniv M (1993). "More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing". EMBO J. 12 (11): 4229–42.
- Horikawa Y, Iwasaki N, Hara M, (1997). "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY". Nat. Genet. 17 (4): 384–5.
- Soubt MK, Marksitzer R, Menoud PA, Nagamine Y (1998). "Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells". Mol. Cell. Biol. 18 (8): 4698–706.
- Lindner TH, Njolstad PR, Horikawa Y, (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". Hum. Mol. Genet. 8 (11): 2001–8.
- Bingham C, Ellard S, Allen L, (2000). "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta". Kidney Int. 57 (3): 898–907.
- Bingham C, Bulman MP, Ellard S, (2001). "Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease". Am. J. Hum. Genet. 68 (1): 219–24.
- Ek J, Grarup N, Urhammer SA, (2002). "Studies of the variability 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". Hum. Mutat. 18 (4): 356–7.
- Carbone I, Cotellessa M, Barella C, (2002). "A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes". Diabetologia 45 (1): 153–4.
- Yoshiuchi I, Yamagata K, Zhu Q, (2002). "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY". Diabetologia 45 (1): 154–5.
- Hu C, Perlmutter DH (2002). "Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells". Am. J. Physiol. Lung Cell Mol. Physiol. 282 (4): L757–65.
- Bingham C, Ellard S, Cole TR, (2002). "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations". Kidney Int. 61 (4): 1243–51.
- Selisko T, Vcelák J, Bendlová B, (2002). "Mutations and intronic variants in the HNF-1 beta gene in a group of German and Czech Caucasians with type 2 diabetes mellitus and progressive diabetic nephropathy". Exp. Clin. Endocrinol. Diabetes 110 (3): 145–7.
- Furuta H, Furuta M, Sanke T, (2002). "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 (8): 3859–63.
- Strausberg RL, Feingold EA, Grouse LH, (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.
- Bingham C, Ellard S, van't Hoff WG, (2003). "Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation". Kidney Int. 63 (5): 1645–51.
- HNF1beta protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)