GLIS3

GLIS3 (GLIS family zinc finger 3) 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. It is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH).

Full Name

GLIS3

Function

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

Biological Process

Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Transcription by RNA polymerase II Source: UniProtKB

Cellular Location

Nucleus

Involvement in disease

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