Transcription factor 2

Transcription factor 2
Properties of human protein
Mass / length primary structure	557 amino acids
Secondary to quaternary structure	Homodimer; Heterodimer (HNF1A)
Isoforms	3
Identifier
Gene name	HNF1B
External IDs	OMIM : 189907 ; UniProt : P35680 ;
Occurrence
Homology family	HNF1
Parent taxon	Chordates

Transcription factor 2 (TCF-2) , also hepatocyte nuclear factor 1-beta (HNF-1B) or variant hepatic nuclear factor (vHNF) , is a transcription factor in chordates . In humans, TCF-2 is expressed in many tissue types, but particularly in the kidneys , pancreas , liver and Müller's duct . TCF-2 contains a homeobox motif and plays a central role in the development of kidney and liver cells. Mutations in HNF1B - gene can be rare hereditary MODY5 , Mullerian aplasia , NIDDM for or increased risk of prostate cancer cause.

In addition to its role in the development of the kidneys, TCF-2 has tasks in the adult kidney: Expression of the ATPase subunit FXYD2 is dependent on the presence of TCF-2, and defects in TCF-2 can show the phenotype of hypomagnesaemia and corresponding hypermagnesuria . In ADPKD- cystic kidney the expression of TCF-2 is down-regulated in the same way as with cisplatin or gentamicin poisoned kidneys. The expression of the kinesin-like protein 12 (Kif12) is also dependent on functional TCF-2. Kif12 plays a role in maintaining cell polarity .

TCF-2 is upregulated in certain pancreatic tumors and in ovarian carcinomas that are insensitive to cisplatin and paclitaxel ; it is therefore a possible diagnostic and therapeutic target .

literature

M. Zaffanello, M. Brugnara, M. Franchini, V. Fanos: TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question. In: Med Sci Monit. 14 (6), Jun 2008, pp. RA78-86. PMID 18509286

Individual evidence

↑ UniProt P35680
↑ Ludmilla Lokmane, Cecile Haumaitre, Pilar Garcia-Villalba, Isabelle Anselme, Sylvie Schneider-Maunoury, Silvia Cereghini: Crucial role of vHNF1 in vertebrate hepatic specification . In: Development . tape 135 , no. 16 , 2008, p. 2777-2786 , PMID 18635606 .
↑ Shazia Adalat, Adrian S Woolf, Karen A Johnstone, Andrea Wirsing, Lorna W Harries, David A Long, Raoul C Hennekam, Sarah E Ledermann, Lesley Rees, William van't Hoff, Stephen D Marks, Richard S Trompeter, Kjell Tullus , Paul J Winyard, Janette Cansick, Imran Mushtaq, Harjeeta K Dhillon, Coralie Bingham, Emma L Edghill, Rukshana Shroff, Horia Stanescu, Gerhart U Ryffel, Sian Ellard, Detlef Bockenhauer: HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting . In: J Am Soc Nephrol . tape 20 , no. 5 , 2009, p. 1123-1131 , PMID 19389850 .
↑ Xuewen Song, Valeria Di Giovanni, Ning He, Kairong Wang, Alistair Ingram, Norman D Rosenblum, York Pei: Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks . In: Hum. Mol. Genet. tape 18 , no. 13 , 2009, p. 2328-2343 , PMID 19346236 .
↑ Ethan Yixun Xu, Ally Perlina, Heather Vu, Sean P. Troth, Richard J. Brennan, Amy G. Aslamkhan, Qiuwei Xu: Integrated Pathway Analysis of Rat Urine Metabolic Profiles and Kidney Transcriptomic Profiles To Elucidate the Systems Toxicology of Model Nephrotoxicants . In: Chemical Research in Toxicology . tape 21 , no. 8 , 2008, ISSN 0893-228X , p. 1548-1561 , doi : 10.1021 / tx800061w , PMID 18656965 .
↑ Yimei Gong, Zhendong Ma, Vishal Patel, Evelyne Fischer, Thomas Hiesberger, Marco Pontoglio, Peter Igarashi: HNF-1 {beta} Regulates Transcription of the PKD Modifier Gene Kif12 . In: J Am Soc Nephrol . tape 20 , no. 1 , 2009, p. 41-47 , PMID 19005009 .
↑ L. Kim, J. Liao, M. Zhang, M. Talamonti, D. Bentrem, S. Rao, GY Yang: Clear cell carcinoma of the pancreas: histopathologic features and a unique biomarker: hepatocyte nuclear factor-1beta. In: Mod Pathol . 21 (9), Sep 2008, pp. 1075-1083. PMID 18536653
↑ Peng Liu, Ashwani Khurana, Ramandeep Rattan, Xiaoping He, Steve Kalloger, Sean Dowdy, Blake Gilks, Viji Shridhar: Regulation of HSulf-1 Expression by Variant Hepatic Nuclear Factor 1 in Ovarian Cancer . In: Cancer Res . tape 69 , no. 11 , 2009, p. 4843-4850 , PMID 19487294 .

[1] UniProt P35680

[2] Ludmilla Lokmane, Cecile Haumaitre, Pilar Garcia-Villalba, Isabelle Anselme, Sylvie Schneider-Maunoury, Silvia Cereghini: Crucial role of vHNF1 in vertebrate hepatic specification . In: Development . tape 135 , no. 16 , 2008, p. 2777-2786 , PMID 18635606 .

[3] Shazia Adalat, Adrian S Woolf, Karen A Johnstone, Andrea Wirsing, Lorna W Harries, David A Long, Raoul C Hennekam, Sarah E Ledermann, Lesley Rees, William van't Hoff, Stephen D Marks, Richard S Trompeter, Kjell Tullus , Paul J Winyard, Janette Cansick, Imran Mushtaq, Harjeeta K Dhillon, Coralie Bingham, Emma L Edghill, Rukshana Shroff, Horia Stanescu, Gerhart U Ryffel, Sian Ellard, Detlef Bockenhauer: HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting . In: J Am Soc Nephrol . tape 20 , no. 5 , 2009, p. 1123-1131 , PMID 19389850 .

[4] Xuewen Song, Valeria Di Giovanni, Ning He, Kairong Wang, Alistair Ingram, Norman D Rosenblum, York Pei: Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks . In: Hum. Mol. Genet. tape 18 , no. 13 , 2009, p. 2328-2343 , PMID 19346236 .

[5] Ethan Yixun Xu, Ally Perlina, Heather Vu, Sean P. Troth, Richard J. Brennan, Amy G. Aslamkhan, Qiuwei Xu: Integrated Pathway Analysis of Rat Urine Metabolic Profiles and Kidney Transcriptomic Profiles To Elucidate the Systems Toxicology of Model Nephrotoxicants . In: Chemical Research in Toxicology . tape 21 , no. 8 , 2008, ISSN 0893-228X , p. 1548-1561 , doi : 10.1021 / tx800061w , PMID 18656965 .

[6] Yimei Gong, Zhendong Ma, Vishal Patel, Evelyne Fischer, Thomas Hiesberger, Marco Pontoglio, Peter Igarashi: HNF-1 {beta} Regulates Transcription of the PKD Modifier Gene Kif12 . In: J Am Soc Nephrol . tape 20 , no. 1 , 2009, p. 41-47 , PMID 19005009 .

[7] L. Kim, J. Liao, M. Zhang, M. Talamonti, D. Bentrem, S. Rao, GY Yang: Clear cell carcinoma of the pancreas: histopathologic features and a unique biomarker: hepatocyte nuclear factor-1beta. In: Mod Pathol . 21 (9), Sep 2008, pp. 1075-1083. PMID 18536653

[8] Peng Liu, Ashwani Khurana, Ramandeep Rattan, Xiaoping He, Steve Kalloger, Sean Dowdy, Blake Gilks, Viji Shridhar: Regulation of HSulf-1 Expression by Variant Hepatic Nuclear Factor 1 in Ovarian Cancer . In: Cancer Res . tape 69 , no. 11 , 2009, p. 4843-4850 , PMID 19487294 .