HNF1B

HNF1 homeobox B
PDB rendering based on 2da6.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2da6​
Identifiers
Symbols	HNF1B ; FJHN; TCF2; HNF1beta; HNF2; LFB3; MODY5; VHNF1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 396
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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.

See also

• Hepatocyte nuclear factors

Further reading

• Montoli A, Colussi G, Massa O; et al. (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. PMID 12148114.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bach I, Mattei MG, Cereghini S, Yaniv M (1991). "Two members of an HNF1 homeoprotein family are expressed in human liver". Nucleic Acids Res. 19 (13): 3553–9. PMID 1677179.CS1 maint: Multiple names: authors list (link)
• Mendel DB, Hansen LP, Graves MK; et al. (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. PMID 2044952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Abbott C, Piaggio G, Ammendola R; et al. (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. PMID 2081590.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7900999.
• Horikawa Y, Iwasaki N, Hara M; et al. (1997). "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY". Nat. Genet. 17 (4): 384–5. doi:10.1038/ng1297-384. PMID 9398836.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9671480.CS1 maint: Multiple names: authors list (link)
• Lindner TH, Njolstad PR, Horikawa Y; et al. (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. PMID 10484768.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bingham C, Ellard S, Allen L; et al. (2000). "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta". Kidney Int. 57 (3): 898–907. doi:10.1046/j.1523-1755.2000.057003898.x. PMID 10720943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bingham C, Bulman MP, Ellard S; et al. (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. PMID 11085914.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ek J, Grarup N, Urhammer SA; et al. (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. doi:10.1002/humu.1201. PMID 11668623.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Carbone I, Cotellessa M, Barella C; et al. (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. doi:10.1007/s001250200019. PMID 11845237.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yoshiuchi I, Yamagata K, Zhu Q; et al. (2002). "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY". Diabetologia. 45 (1): 154–5. doi:10.1007/s001250200020. PMID 11845238.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1152/ajplung.00271.2001. PMID 11880302.
• Bingham C, Ellard S, Cole TR; et al. (2002). "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations". Kidney Int. 61 (4): 1243–51. doi:10.1046/j.1523-1755.2002.00272.x. PMID 11918730.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Selisko T, Vcelák J, Bendlová B; et al. (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. doi:10.1055/s-2002-29093. PMID 12012276.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Furuta H, Furuta M, Sanke T; et al. (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. PMID 12161522.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bingham C, Ellard S, van't Hoff WG; et al. (2003). "Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation". Kidney Int. 63 (5): 1645–51. doi:10.1046/j.1523-1755.2003.00903.x. PMID 12675839.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• HNF1beta+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.