GLI3

Chr 7p14.1

GLI family zinc finger 3

Aliases:: PAP-A, PAPA, PAPA1, PAPB, ACLS
MANE:: ENST00000395925.8

OMIM: 165240 ↗NCBI: 2737 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GLI3 · P10071

v62025-08-01

Predicted Aligned Error matrix for GLI3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

42.4/ 100

Very low

1,580 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)11%
Low(50–70)4%
Very low(< 50)83%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Greig cephalopolysyndactyly syndrome
0.84
Pallister-Hall syndrome
0.81
polydactyly, postaxial, type A1
0.78
polysyndactyly 4
0.72
Polysyndactyly
0.66
hereditary disease
0.53
postaxial polydactyly type B
0.50
postaxial polydactyly type A
0.50
neurodegenerative disease
0.49
Abnormality of the skeletal system
0.40

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

Protein function (UniProt)

Transcription activator GLI3

Transcription factor that acts as a key effector of the smoothened signaling pathway, and which plays a role in the development and patterning of various body structures, including the brain and limbs (PubMed:10075717, PubMed:10375510, PubMed:10693759, PubMed:11238441, PubMed:17764085, PubMed:20154143, PubMed:27146893). Specifically binds to the minimal GLI-consensus sequence 5'-GACCACCCA-3' to activate or repress the expression of target genes (PubMed:10075717). Functions both as a transcriptional activator and repressor: the full-length GLI3 form (Transcription activator GLI3) acts as a transcription activator following smoothened activation, while the Transcription repressor GLI3R, which is generated in absence of smoothened, acts as a transcription repressor (PubMed:10375510). The repressor form (GLI3R) constitutes the major form of GLI3 (PubMed:10375510)