HNF1B

HNF1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DA6, 2H8R
Identifiers
Aliases	HNF1B, FJHN, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1, HNF-1-beta, HNF1 homeobox B, T2D, ADTKD3, RCAD
External IDs	OMIM: 189907; MGI: 98505; HomoloGene: 396; GeneCards: HNF1B; OMA:HNF1B - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q12 Start 37,686,431 bp End 37,745,059 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 C|11 51.23 cM Start 83,740,889 bp End 83,796,645 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas gallbladder human kidney mucosa of transverse colon islet of Langerhans right uterine tube duodenum right lobe of liver rectum testicle Top expressed in right kidney proximal tubule human kidney connecting tubule yolk sac efferent ductule left colon Bowman's capsule transitional epithelium of urinary bladder medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding protein homodimerization activity DNA-binding transcription factor activity protein binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding RNA polymerase II transcription regulatory region sequence-specific DNA binding cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific protein-containing complex binding Cellular component transcription regulator complex nucleoplasm nucleus Biological process Notch signaling pathway pronephros development mesonephric tubule development endoderm development regulation of transcription, DNA-templated response to organic cyclic compound mesonephric duct development endodermal cell fate specification kidney development mesonephric duct formation ureteric bud elongation protein-DNA complex assembly negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis hindbrain development hepatocyte differentiation epithelial cell proliferation insulin secretion negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II response to glucose positive regulation of transcription initiation from RNA polymerase II promoter nephric duct formation circadian regulation of gene expression transcription, DNA-templated regulation of branch elongation involved in ureteric bud branching negative regulation of mesenchymal cell apoptotic process involved in metanephros development epithelium development nephric duct development genitalia development pronephric nephron tubule development positive regulation of transcription, DNA-templated hepatoblast differentiation regulation of Wnt signaling pathway positive regulation of gene expression inner cell mass cell differentiation embryonic morphogenesis kidney morphogenesis embryonic digestive tract morphogenesis liver development regulation of endodermal cell fate specification branching morphogenesis of an epithelial tube response to carbohydrate regulation of pronephros size anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II endocrine pancreas development regulation of transcription by RNA polymerase II pancreas development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6928 21410 Ensembl ENSG00000276194 ENSG00000275410 ENSMUSG00000020679 UniProt P35680 P27889 RefSeq (mRNA) NM_000458 NM_001165923 NM_001304286 NM_006481 NM_001291268 NM_001291269 NM_009330 RefSeq (protein) NP_000449 NP_001159395 NP_001291215 NP_001159395.1 NP_001278197 NP_001278198 NP_033356 Location (UCSC) Chr 17: 37.69 – 37.75 Mb Chr 11: 83.74 – 83.8 Mb PubMed search
Wikidata
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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. 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.

See also

• Hepatocyte nuclear factors

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. doi:10.1002/j.1460-2075.1993.tb06107.x. 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. S2CID 33770012.
• 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. doi:10.1128/mcb.18.8.4698. 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. S2CID 86548348.
• 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. S2CID 86020585.
• 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/jcem.87.8.8776. PMID 12161522. S2CID 38389087.
• 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 U.S. 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.