Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Zinc finger protein GLIS2

The gene GLIS2 encodes a transcription factor. Mutations in this gene are associated with autosomal recessive ciliopathy nephronophthisis 7.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 7



Halbritter J et. al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.


Zhang F et. al. (2001) Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2.


Zhang F et. al. (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.


Attanasio M et. al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

Update: Sept. 26, 2018