GLIS3

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]

Description

GLIS family zinc finger 3

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

9 (3824127 - 4348392)

Ensembl ID

ENSG00000107249  (ver. 103.38)

Orthologs

Mouse Glis3: ENSMUSG00000052942

UniProt

Q8NEA6

neXtProt

NX_Q8NEA6

Human splice variants
Mouse splice variants

Protein structure