GLIS3

GLIS family zinc finger 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3'.

From NCBI Gene:

  • Diabetes mellitus, neonatal, with congenital hypothyroidism

From UniProt:

Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH): A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. [MIM:610199]

Cytogenetic Location: 9p24.2, which is the short (p) arm of chromosome 9 at position 24.2

Molecular Location: base pairs 3,824,127 to 4,310,694 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9p24.2, which is the short (p) arm of chromosome 9 at position 24.2
  • NDH
  • ZNF515