HNF1B

HNF1 homeobox B
PDB rendering based on 2da6.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DA6​, 2H8R​
Identifiers
Symbols	HNF1B ; FJHN; HNF-1-beta; HNF-1B; HNF1beta; HNF2; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; VHNF1
External IDs	OMIM: 189907 MGI: 98505 HomoloGene: 396 GeneCards: HNF1B Gene
Gene ontology Molecular function • core promoter proximal region DNA binding • DNA binding • transcription factor activity, sequence-specific DNA binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • protein binding • protein complex binding • protein homodimerization activity • sequence-specific DNA binding • protein heterodimerization activity Cellular component • nucleus • nucleoplasm • transcription factor complex Biological process • negative regulation of transcription from RNA polymerase II promoter • endodermal cell fate specification • kidney development • inner cell mass cell differentiation • transcription from RNA polymerase II promoter • response to glucose • anterior/posterior pattern specification • response to organic cyclic compound • insulin secretion • regulation of Wnt signaling pathway • hindbrain development • endocrine pancreas development • circadian regulation of gene expression • regulation of pronephros size • pronephric nephron tubule development • response to drug • regulation of endodermal cell fate specification • positive regulation of transcription, DNA-templated • embryonic digestive tract morphogenesis • branching morphogenesis of an epithelial tube • pronephros development • genitalia development • epithelial cell proliferation • positive regulation of transcription initiation from RNA polymerase II promoter • ureteric bud elongation • hepatoblast differentiation • negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis • protein-DNA complex assembly • hepatocyte differentiation • regulation of branch elongation involved in ureteric bud branching • mesonephric duct formation • negative regulation of mesenchymal cell apoptotic process involved in metanephros development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6928	21410
Ensembl	ENSG00000275410	ENSMUSG00000020679
UniProt	P35680	P27889
RefSeq (mRNA)	NM_000458	NM_001291268
RefSeq (protein)	NP_000449	NP_001278197
Location (UCSC)	Chr 17: 37.69 – 37.75 Mb	Chr 11: 83.85 – 83.91 Mb
PubMed search

HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene.

Function

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.^[1]

See also

• Hepatocyte nuclear factors

References

1. "Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor".

Further reading

• Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F (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. doi:10.1053/ajkd.2002.34538. PMID 12148114.
• 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. doi:10.1093/nar/19.13.3553. PMC 328379. PMID 1677179.
• Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR (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. doi:10.1101/gad.5.6.1042. PMID 2044952.
• Abbott C, Piaggio G, Ammendola R, Solomon E, Povey S, Gounari F, De Simone V, Cortese 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. doi:10.1016/0888-7543(90)90239-Q. PMID 2081590.
• 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. PMC 413717. PMID 7900999.
• Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI (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.
• 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. PMC 109056. PMID 9671480.
• Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (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. doi:10.1093/hmg/8.11.2001. PMID 10484768.
• Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT (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.
• Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (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. doi:10.1086/316945. PMC 1234916. PMID 11085914.
• Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O (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.
• Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R (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.
• Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y (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.
• 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, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT (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.
• Selisko T, Vcelák J, Bendlová B, Graessler J, Schwarz PE, Schulze J (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.
• Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K (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. doi:10.1210/jc.87.8.3859. PMID 12161522.
• Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT (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.

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.