CUX2

Chr 12q24.11-q24.12

cut like homeobox 2

Aliases:: KIAA0293, CDP2
MANE:: ENST00000261726.11

OMIM: 610648 ↗NCBI: 23316 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CUX2 · O14529

v62025-08-01

Predicted Aligned Error matrix for CUX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.5/ 100

Low

1,486 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)20%
Low(50–70)5%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.64
developmental and epileptic encephalopathy
0.52
gout
0.45
atrial fibrillation
0.43
alcohol drinking
0.42
stroke disorder
0.39
hypertensive disorder
0.39
coronary artery disorder
0.38
Lennox-Gastaut syndrome
0.38
ischemic stroke
0.38

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

Protein function (UniProt)

Homeobox protein cut-like 2

Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence-specific manner