GLIS3 (Entrez ID: 169792)

Entrez Gene ID 169792
Official Gene Symbol GLIS3 (GeneCards)
Full name GLIS family zinc finger 3
Location 9p24.2
Other ids Vega : OTTHUMG00000019463
MIM : 610192
HGNC : HGNC:28510
Ensembl : ENSG00000107249
Other names NDH, ZNF515
Summary 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]

Variants

Found 4 variants in this database.