CIC

Chr 19q13.2

capicua transcriptional repressor

Aliases:: KIAA0306
MANE:: ENST00000681038.1

OMIM: 612082 ↗NCBI: 23152 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CIC · Q96RK0

v62025-08-01

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

Mean pLDDT

40.4/ 100

Very low

2,517 residues

Confidence breakdown

Very high(≥ 90)7%
Confident(70–90)3%
Low(50–70)2%
Very low(< 50)88%

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, imprinted status unknown
Inherited white matter disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

intellectual disability, autosomal dominant 45
0.78
hereditary disease
0.53
neurodegenerative disease
0.47
low grade glioma
0.46
autosomal dominant non-syndromic intellectual disability
0.45
neurodevelopmental disorder
0.41
glioma
0.38
oligoastrocytoma
0.37
urinary bladder carcinoma
0.37
cutaneous melanoma
0.37

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

Protein function (UniProt)

Protein capicua homolog

Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development