HNF1B

{{Short description|Mammalian protein found in Homo sapiens}} {{Infobox_gene}} '''HNF1 homeobox B''' (hepatocyte nuclear factor 1 homeobox B), also known as '''HNF1B''' or '''transcription factor 2''' ('''TCF2'''), is a human gene.

== Function ==

HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure.<ref>{{cite journal |vauthors=Barbacci E, Reber M, Ott MO, etal | year = 1999 |title = Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification | journal = Development | volume = 126 | issue = 21| pages = 4795–4805 | doi = 10.1242/dev.126.21.4795 | pmid = 10518496 }}</ref><ref>{{cite journal |vauthors=Coffinier C, Thepot D, Babinet C, etal | year = 1999 | title = Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation | journal = Development | volume = 126 | issue = 21| pages = 4785–4794 | doi = 10.1242/dev.126.21.4785 | pmid = 10518495 | url = http://prodinra.inra.fr/record/443476 | url-access = subscription }}</ref> Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 (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.<ref name="entrez">{{cite web | title = HNF1B HNF1 homeobox B [ Homo sapiens (human) ]| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6928}}</ref>

== See also == * Hepatocyte nuclear factors

== References == {{reflist}}

== Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F | title = 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 | journal = Am. J. Kidney Dis. | volume = 40 | issue = 2 | pages = 397–402 | year = 2002 | pmid = 12148114 | doi = 10.1053/ajkd.2002.34538 }} * {{cite journal | vauthors = Bach I, Mattei MG, Cereghini S, Yaniv M | title = Two members of an HNF1 homeoprotein family are expressed in human liver | journal = Nucleic Acids Res. | volume = 19 | issue = 13 | pages = 3553–9 | year = 1991 | pmid = 1677179 | pmc = 328379 | doi = 10.1093/nar/19.13.3553 }} * {{cite journal | vauthors = Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR | title = HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro | journal = Genes Dev. | volume = 5 | issue = 6 | pages = 1042–56 | year = 1991 | pmid = 2044952 | doi = 10.1101/gad.5.6.1042 | doi-access = free }} * {{cite journal | vauthors = Abbott C, Piaggio G, Ammendola R, Solomon E, Povey S, Gounari F, De Simone V, Cortese R | title = Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction | journal = Genomics | volume = 8 | issue = 1 | pages = 165–7 | year = 1991 | pmid = 2081590 | doi = 10.1016/0888-7543(90)90239-Q }} * {{cite journal | vauthors = Bach I, Yaniv M | title = More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing | journal = EMBO J. | volume = 12 | issue = 11 | pages = 4229–42 | year = 1993 | pmid = 7900999 | pmc = 413717 | doi = 10.1002/j.1460-2075.1993.tb06107.x}} * {{cite journal | vauthors = 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 | title = Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY | journal = Nat. Genet. | volume = 17 | issue = 4 | pages = 384–5 | year = 1997 | pmid = 9398836 | doi = 10.1038/ng1297-384 | s2cid = 33770012 }} * {{cite journal | vauthors = Soubt MK, Marksitzer R, Menoud PA, Nagamine Y | title = Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells | journal = Mol. Cell. Biol. | volume = 18 | issue = 8 | pages = 4698–706 | year = 1998 | pmid = 9671480 | pmc = 109056 | doi = 10.1128/mcb.18.8.4698}} * {{cite journal | vauthors = Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O | title = 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 | journal = Hum. Mol. Genet. | volume = 8 | issue = 11 | pages = 2001–8 | year = 1999 | pmid = 10484768 | doi = 10.1093/hmg/8.11.2001 | doi-access = free }} * {{cite journal | vauthors = 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 | title = Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta | journal = Kidney Int. | volume = 57 | issue = 3 | pages = 898–907 | year = 2000 | pmid = 10720943 | doi = 10.1046/j.1523-1755.2000.057003898.x | doi-access = free }} * {{cite journal | vauthors = Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT | title = Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease | journal = Am. J. Hum. Genet. | volume = 68 | issue = 1 | pages = 219–24 | year = 2001 | pmid = 11085914 | pmc = 1234916 | doi = 10.1086/316945 }} * {{cite journal | vauthors = Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O | title = 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 | journal = Hum. Mutat. | volume = 18 | issue = 4 | pages = 356–7 | year = 2002 | pmid = 11668623 | doi = 10.1002/humu.1201 | s2cid = 86548348 }} * {{cite journal | vauthors = Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R | title = A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes | journal = Diabetologia | volume = 45 | issue = 1 | pages = 153–4 | year = 2002 | pmid = 11845237 | doi = 10.1007/s125-002-8258-8 }} * {{cite journal | vauthors = Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y | title = Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY | journal = Diabetologia | volume = 45 | issue = 1 | pages = 154–5 | year = 2002 | pmid = 11845238 | doi = 10.1007/s125-002-8259-5 }} * {{cite journal | vauthors = Hu C, Perlmutter DH | title = Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells | journal = Am. J. Physiol. Lung Cell Mol. Physiol. | volume = 282 | issue = 4 | pages = L757–65 | year = 2002 | pmid = 11880302 | doi = 10.1152/ajplung.00271.2001 | s2cid = 86020585 }} * {{cite journal | vauthors = 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 | title = Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations | journal = Kidney Int. | volume = 61 | issue = 4 | pages = 1243–51 | year = 2002 | pmid = 11918730 | doi = 10.1046/j.1523-1755.2002.00272.x | doi-access = free }} * {{cite journal | vauthors = Selisko T, Vcelák J, Bendlová B, Graessler J, Schwarz PE, Schulze J | title = 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 | journal = Exp. Clin. Endocrinol. Diabetes | volume = 110 | issue = 3 | pages = 145–7 | year = 2002 | pmid = 12012276 | doi = 10.1055/s-2002-29093 }} * {{cite journal | vauthors = Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K | title = Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese | journal = J. Clin. Endocrinol. Metab. | volume = 87 | issue = 8 | pages = 3859–63 | year = 2002 | doi = 10.1210/jcem.87.8.8776 | pmid = 12161522 | s2cid = 38389087 | doi-access = free }} * {{cite journal | vauthors = 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 | title = Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation | journal = Kidney Int. | volume = 63 | issue = 5 | pages = 1645–51 | year = 2003 | pmid = 12675839 | doi = 10.1046/j.1523-1755.2003.00903.x | doi-access = free }} {{refend}}

== External links == * {{MeshName|HNF1beta+protein,+human}}

Category:Transcription factors