GLIS2
| GLIS family zinc finger 2 | |
|---|---|
| Identifiers | |
| Symbol | GLIS2 |
| Alt. symbols | NPHP7 |
| Entrez | 84662 |
| HUGO | 29450 |
| OMIM | 608539 |
| RefSeq | NM_032575 |
| UniProt | Q9BZE0 |
| Other data | |
| Locus | Chr. 16 p13.3 |
GLIS family zinc finger 2 also known as GLIS2 is a human gene.[1][2]
Function
The protein encoded by this gene is a Kruppel-like transcription factor which functions depending on the gene and promoter context as an activator or repressor of gene transcription.[2] GLIS2 plays a role in kidney development and neurogenesis.[2]
Glis2 knockout mice display decreased size and weight. The kidneys in these mice show progressive kidney atrophy and display symptoms similar to human nephronophthisis. Glis2 plays an essential role in the maintenance of renal tissue through prevention of apoptosis and fibrosis.[3]
Clinical significance
Mutations in the GLIS2 gene are associated with nephronophthisis.[3]
References
- ↑ Zhang F, Jetten AM (December 2001). "Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2". Gene. 280 (1–2): 49–57. doi:10.1016/S0378-1119(01)00764-8. PMID 11738817.
- ↑ 2.0 2.1 2.2 Zhang F, Nakanishi G, Kurebayashi S, Yoshino K, Perantoni A, Kim YS, Jetten AM (March 2002). "Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis". The Journal of Biological Chemistry. 277 (12): 10139–49. doi:10.1074/jbc.M108062200. PMID 11741991.
- ↑ 3.0 3.1 AAttanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M (August 2007). "Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis". Nature Genetics. 39 (8): 1018–24. doi:10.1038/ng2072. PMID 17618285.
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