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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GLIS2
GLIS family zinc finger 2
Chromosome 16 · 16p13.3
NCBI Gene: 84662Ensembl: ENSG00000126603.10HGNC: HGNC:29450UniProt: B3KTH4
34PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription repressor activity, RNA polymerase II-specificnephronophthisisJuvenile nephronophthisisJoubert syndrome 20acute myeloid leukemia
✦AI Summary

GLIS2 is a zinc finger transcription factor that functions as a context-dependent regulator of gene expression, acting as either a repressor or activator depending on cellular context. In normal kidney physiology, GLIS2 maintains epithelial differentiation by repressing SNAI1-mediated epithelial-to-mesenchymal transition and inhibits Wnt/β-catenin signaling, potentially through recruitment of corepressors CTBP1 and HDAC3 1. GLIS2 also negatively regulates Hedgehog signaling pathways 2. In polycystic kidney disease, GLIS2 emerges as a critical effector of polycystin-dependent cilia signaling required for cyst formation. Inactivation of Glis2 suppresses disease progression in ADPKD mouse models, and antisense oligonucleotide-mediated targeting of Glis2 slows disease development, positioning GLIS2 as a potential therapeutic target 1. Clinically, GLIS2 is highly relevant in pediatric leukemia when fused to CBFA2T3 or ETO2. These fusion proteins drive aggressive acute megakaryoblastic leukemia through aberrant transcriptional regulation of developmental pathways including NOTCH, Hedgehog, TGFβ, and WNT signaling 324. CBFA2T3-GLIS2 fusions characterize a pediatric-specific AML subtype with extremely poor prognosis (15-30% overall survival) 5. Fusion-driven leukemias show sensitivity to BCL2 inhibition and combined MEK/BCL2 inhibition strategies 34.

Sources cited
1
GLIS2 is an early effector of polycystin signaling; Glis2 inactivation suppresses ADPKD in mouse models; antisense oligonucleotides targeting Glis2 slow disease progression
PMID: 38693102
2
CBFA2T3-GLIS2 drives pediatric acute megakaryoblastic leukemia; fusion alters BH3-only protein expression; AMKL cells are sensitive to BCL2 inhibitor navitoclax
PMID: 37716355
3
CBFA2T3-GLIS2 mediates transcriptional regulation of developmental pathways including NOTCH, Hedgehog, TGFβ, and WNT; requires ETO transcription factor dimerization through nervy homology region 2
PMID: 39384814
4
ETO2::GLIS2 shows developmental stage-dependent leukemogenesis; transformed cells depend on cytokines IL3 and SCF; combined MEK and BCL2 inhibition reduces leukemia progression
PMID: 39304903
5
CBFA2T3-GLIS2 is the most frequent chimeric oncogene in non-Down syndrome acute megakaryoblastic leukemia; results from cryptic chromosome 16 inversion; associated with 15-30% overall survival
PMID: 30592296
Disease Associationsⓘ21
nephronophthisisOpen Targets
0.67Moderate
Juvenile nephronophthisisOpen Targets
0.37Weak
Joubert syndrome 20Open Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.10Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.07Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.07Suggestive
cystOpen Targets
0.07Suggestive
nephrotic syndromeOpen Targets
0.07Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.07Suggestive
nephrotic syndrome, type 24Open Targets
0.07Suggestive
Dent diseaseOpen Targets
0.06Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.06Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.06Suggestive
focal segmental glomerulosclerosis 7Open Targets
0.06Suggestive
polycystic kidney disease 7Open Targets
0.06Suggestive
Dent disease type 1Open Targets
0.06Suggestive
nail-patella-like renal diseaseOpen Targets
0.06Suggestive
nephrotic syndrome, type 23Open Targets
0.06Suggestive
Senior-Loken syndrome 1Open Targets
0.06Suggestive
Nephronophthisis 7UniProt
Pathogenic Variants1
NM_032575.3(GLIS2):c.775+1G>TPathogenic
Nephronophthisis|Nephronophthisis 7|GLIS2-related disorder
☆☆☆☆2024
View on ClinVar ↗
Related Genes
KIR2DL4Protein interaction76%NPHP1Protein interaction74%CBFA2T3Protein interaction74%BBS1Protein interaction72%NCR3Protein interaction71%ZIC5Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
87%
Heart
66%
Brain
27%
Liver
12%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
GLIS2KIR2DL4NPHP1CBFA2T3BBS1NCR3ZIC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZE0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.33Tolerant
Observed/Expected LoF0.41 [0.27–0.64]
RankingsWhere GLIS2 stands among ~20K protein-coding genes
  • #11,160of 20,598
    Most Researched34
  • #5,226of 5,498
    Most Pathogenic Variants1
  • #4,542of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedGLIS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 27336129
1.00
2
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease.
PMID: 38693102
Nat Commun · 2024
0.90
3
Precision medicine for high-risk gene fusions in pediatric AML: a focus on KMT2A, NUP98, and GLIS2 rearrangements.
PMID: 39808803
Blood · 2025
0.80
4
CBFA2T3-GLIS2-dependent pediatric acute megakaryoblastic leukemia is driven by GLIS2 and sensitive to navitoclax.
PMID: 37716355
Cell Rep · 2023
0.70
5
Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.
PMID: 28112737
Nat Genet · 2017
0.60