Aliases for GLIS3 Gene
External Ids for GLIS3 Gene
Previous HGNC Symbols for GLIS3 Gene
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for GLIS3 Gene
GLIS3 (GLIS Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with GLIS3 include neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys and diabetes mellitus, neonatal, with congenital hypothyroidism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is ZIC4.
UniProtKB/Swiss-Prot for GLIS3 Gene
Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5-GACCACCCAC-3 (By similarity).