- Human pathology

Home > A. Molecular pathology > GLIS2



Monday 16 July 2007

Glis2 is a transcription factor mutated in NPHP. Its product has an essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis.

Members of the Kruppel-like zinc finger protein family, such as GLIS2, function as activators and/or repressors of gene transcription.


- germline mutations in nephronophthisis (NPHP),

  • nephronophthisis (NPHP) is an autosomal recessive kidney disease. It is the most frequent genetic cause of end-stage renal failure in the first three decades of life.

- germline mutations of GLIS2 cause an NPHP-like phenotype in humans and mice.

Mouse models

Kidneys of Glis2 mutant mice show severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2.

See also



- Attanasio M, Uhlenhaut NH, Sousa VH, O’toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nurnberg G, Becker C, Chudley AE, Nurnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007 Jul 8; PMID: 17618285

- Zhang, F.; Nakanishi, G.; Kurebayashi, S.; Yoshino, K.; Perantoni, A.; Kim, Y.-S.; Jetten, A. M. : Characterization of Glis2, a novel gene encoding a Gli-related, Kruppel-like transcription factor with transactivation and repressor functions: roles in kidney development and neurogenesis. J. Biol. Chem. 277: 10139-10149, 2002. PubMed ID : 11741991