GLIS2

Chr 16p13.3

GLIS family zinc finger 2

Aliases:: NPHP7
MANE:: ENST00000433375.2

OMIM: 608539 ↗NCBI: 84662 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GLIS2 · Q9BZE0

v62025-08-01

Predicted Aligned Error matrix for GLIS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.9/ 100

Low

524 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)30%
Low(50–70)9%
Very low(< 50)61%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Cystic kidney disease
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders

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Disease associations (Open Targets)

nephronophthisis
0.68
Juvenile nephronophthisis
0.37
Joubert syndrome 20
0.12
acute myeloid leukemia
0.11
familial idiopathic steroid-resistant nephrotic syndrome
0.09
focal segmental glomerulosclerosis
0.09
nephrotic syndrome
0.09
Senior-Loken syndrome
0.08
Dent disease
0.08
tubulointerstitial kidney disease, autosomal dominant, 2
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein GLIS2

Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity)