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GLIS3 GLIS family zinc finger 3

Gene ID: 169792, updated on 4-Jan-2025
Gene type: protein coding
Also known as: 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
GeneReviews: Not available
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
GeneReviews: Not available
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
GeneReviews: Not available
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
GeneReviews: Not available
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
GeneReviews: Not available
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
GeneReviews: Not available
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
GeneReviews: Not available
Neonatal diabetes mellitus with congenital hypothyroidism
MedGen: C1857775OMIM: 610199GeneReviews: Not available
See labs
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
GeneReviews: Not available

Genomic context

Location:
9p24.2
Sequence:
Chromosome: 9; NC_000009.12 (3824127..4490465, complement)
Total number of exons:
20

Links

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