GLI2

Chr 2q14.2

GLI family zinc finger 2

Aliases:: THP2, HPE9, THP1
MANE:: ENST00000361492.9

OMIM: 165230 ↗NCBI: 2736 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GLI2 · P10070

v62025-08-01

Predicted Aligned Error matrix for GLI2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

42.0/ 100

Very low

1,586 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)12%
Low(50–70)4%
Very low(< 50)84%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

holoprosencephaly 9
0.80
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
0.79
holoprosencephaly
0.67
hereditary disease
0.54
microform holoprosencephaly
0.48
Combined pituitary hormone deficiencies, genetic forms
0.44
combined pituitary hormone deficiencies, genetic form
0.44
androgenetic alopecia
0.41
diabetes mellitus
0.40
alobar holoprosencephaly
0.38

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

Protein function (UniProt)

Transcription activator GLI2

Transcription factor that acts as a key effector of the smoothened signaling pathway, and which plays a role in skeleton development (PubMed:15994174, PubMed:18455992, PubMed:19878745, PubMed:20154143, PubMed:20685856, PubMed:24311597, PubMed:26565916, PubMed:9557682). Specifically binds to the minimal GLI-consensus sequence 5'-GACCACCCA-3' to activate or repress the expression of target genes (By similarity). Functions both as a transcriptional activator and repressor: the full-length GLI2 form (Transcription activator GLI2) acts as a transcription activator following smoothened activation, while the Transcription repressor GLI2R, which is generated in absence of smoothened, acts as a transcription repressor (By similarity). The transcriptional activator form constitutes the major form of GLI2 (By similarity)