GLIS2
Chr 16ARGLIS family zinc finger 2
Also known as: NKL, NPHP7
GLIS2 encodes a nuclear transcription factor with zinc finger domains that regulates gene expression in kidney morphogenesis and neuronal differentiation, particularly maintaining epithelial cell identity in renal tissues. Mutations cause nephronophthisis 7, an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and cyst development at the kidney's corticomedullary border. The gene is highly constrained against loss-of-function variants (pLI 0.86, LOEUF 0.42), indicating intolerance to protein-disrupting mutations.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLIS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools