GLIS3 Chromosome 9
GLIS family zinc finger 3
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
9p24.2
Ensembl
ENSG00000107249
Associated Conditions (6)
GLIS3-related disorder
Neonatal diabetes mellitus with congenital hypothyroidism
Monogenic diabetes
Transitory neonatal diabetes mellitus
Inborn genetic diseases
Congenital aniridia
Key Variants
RS114838275
Conflicting classifications of pathogenicity
GLIS3-related disorder, GLIS3-related disorder
Health Risk
RS1198183960
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS138497710
Conflicting classifications of pathogenicity
Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
Health Risk
RS140309338
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS140880100
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS141467694
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS143051164
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS143192828
Conflicting classifications of pathogenicity
Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism, Monogenic diabetes
Health Risk
RS143229804
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS143425492
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS144648063
Conflicting classifications of pathogenicity
Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder, Neonatal diabetes mellitus with congenital hypothyroidism
Health Risk
RS145867412
Conflicting classifications of pathogenicity
Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism, Monogenic diabetes
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879255609 | Health Risk | Pathogenic | Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism |
| RS1586744173 | Health Risk | Pathogenic/Likely pathogenic | Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism |