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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CIC
capicua transcriptional repressor
Chromosome 19 Β· 19q13.2
NCBI Gene: 23152Ensembl: ENSG00000079432.10HGNC: HGNC:14214UniProt: A0A0A0MQR4
134PubMed Papers
21Diseases
0Drugs
75Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingregulation of transcription by RNA polymerase IIbrain developmentintellectual disability, autosomal dominant 45Intellectual disabilitygenetic disorderneurodegenerative disease
✦AI Summary

CIC (capicua transcriptional repressor) is a highly conserved transcriptional repressor that plays critical roles in neurodevelopment and disease. As a transcriptional repressor, CIC directly controls target genes involved in brain development, with pathogenic variants causing a spectrum of neurodevelopmental disorders including epilepsy, intellectual disability, autism spectrum disorder, and developmental delays 1. CIC functions as a negative regulator of cell-intrinsic immunity, with loss of CIC resulting in heightened antiviral responses 2. The protein is regulated through mitogen-activated protein kinase (MAPK) signaling and contributes to tumor progression through direct transcriptional control of effector target genes 3. CIC knockout leads to dysregulation of neurodevelopmental genes, including direct targets EPHA2 and ID1, which are linked to neurodevelopment and glioma tumorigenesis 4. In cancer, CIC alterations are particularly significant in rare sarcomas, where CIC-DUX4 fusions create aggressive undifferentiated round cell sarcomas with poor prognosis 5. Pediatric patients with CIC-fused sarcomas often present with large tumors and metastatic disease, showing dismal outcomes despite multimodal therapy 6. The protein's dual roles in neurodevelopment and oncogenesis highlight its importance as both a developmental regulator and tumor suppressor.

Sources cited
1
CIC variants cause neurodevelopmental disorders including epilepsy, intellectual disability, and autism spectrum disorder
PMID: 39596625
2
CIC functions as a negative regulator of cell-intrinsic immunity and antiviral responses
PMID: 29642015
3
CIC is a transcriptional repressor regulated by MAPK signaling that contributes to tumor progression
PMID: 32978089
4
CIC knockout leads to dysregulation of neurodevelopmental genes including direct targets EPHA2 and ID1
PMID: 34767259
5
CIC-DUX4 fusions create aggressive undifferentiated round cell sarcomas with poor prognosis
PMID: 35730520
6
Pediatric CIC-fused sarcomas present with large tumors and metastatic disease with poor outcomes
PMID: 37212486
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 45Open Targets
0.79Strong
Intellectual disabilityOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
low grade gliomaOpen Targets
0.46Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.45Moderate
Neurodevelopmental disorderOpen Targets
0.41Moderate
gliomaOpen Targets
0.38Weak
oligoastrocytomaOpen Targets
0.37Weak
urinary bladder carcinomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
anaplastic oligodendrogliomaOpen Targets
0.37Weak
brain oligodendrogliomaOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
desmoplastic melanomaOpen Targets
0.37Weak
malignant soft tissue neoplasmOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Intellectual developmental disorder, autosomal dominant 45UniProt
Pathogenic Variants75
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)Likely pathogenic
not provided|CIC-related neurodevelopmental disorders|Intellectual disability, autosomal dominant 45
β˜…β˜…β˜†β˜†2025β†’ Residue 1136
NM_001386298.1(CIC):c.5903-2A>GLikely pathogenic
CIC-related disorder|Intellectual disability, autosomal dominant 45
β˜…β˜…β˜†β˜†2025
NM_001386298.1(CIC):c.2363del (p.Pro788fs)Pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜…β˜†β˜†2025β†’ Residue 788
NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter)Pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜…β˜†β˜†2021β†’ Residue 1134
NM_001386298.1(CIC):c.3179+1G>ALikely pathogenic
not provided|Glioma susceptibility 1
β˜…β˜…β˜†β˜†2021
NM_001386298.1(CIC):c.3179+1G>TPathogenic
Intellectual disability, autosomal dominant 45|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021
NM_001386298.1(CIC):c.6103dup (p.Thr2035fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2035
NM_001386298.1(CIC):c.3719del (p.Pro1240fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1240
NM_001386298.1(CIC):c.2836T>C (p.Trp946Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 946
NM_001386298.1(CIC):c.6291del (p.Val2098fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 2098
NM_001386298.1(CIC):c.4604del (p.Asn1535fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1535
NM_001386298.1(CIC):c.6367C>T (p.Arg2123Ter)Pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜†β˜†β˜†2025β†’ Residue 2123
NM_001386298.1(CIC):c.5421dup (p.Lys1808fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1808
NM_001386298.1(CIC):c.5996del (p.Pro1999fs)Likely pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜†β˜†β˜†2025β†’ Residue 1999
NM_001386298.1(CIC):c.5080del (p.Ala1694fs)Likely pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜†β˜†β˜†2025β†’ Residue 1694
NM_001386298.1(CIC):c.4006C>T (p.Gln1336Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1336
NM_001386298.1(CIC):c.4671dup (p.Ser1558fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1558
NM_001386298.1(CIC):c.6292del (p.Val2098fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2098
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)Likely pathogenic
Intellectual disability, autosomal dominant 45
β˜…β˜†β˜†β˜†2025β†’ Residue 38
NM_001386298.1(CIC):c.3837_3840del (p.Ser1279fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1279
View on ClinVar β†—
Related Genes
ATXN1LProtein interaction98%RBM17Protein interaction98%ATXN1Protein interaction87%ATAD1Shared pathway29%NLGN4YShared pathway25%MATCAP1Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Lung
68%
Bone Marrow
56%
Liver
55%
Brain
44%
Heart
23%
Gene Interaction Network
Click a node to explore
CICATXN1LRBM17ATXN1ATAD1NLGN4YMATCAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6KZG Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.25]
RankingsWhere CIC stands among ~20K protein-coding genes
  • #3,449of 20,598
    Most Researched134 Β· top quartile
  • #980of 5,498
    Most Pathogenic Variants75 Β· top quartile
  • #761of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedCIC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CIC-DUX4 sarcomas.
PMID: 35730520
Curr Opin Oncol Β· 2022
1.00
2
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.
PMID: 39596625
Genes (Basel) Β· 2024
0.90
3
Genome-wide CRISPR/Cas9 Screen Identifies Host Factors Essential for Influenza Virus Replication.
PMID: 29642015
Cell Rep Β· 2018
0.80
4
Capicua in Human Cancer.
PMID: 32978089
Trends Cancer Β· 2021
0.70
5
Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.
PMID: 39921488
J Cutan Pathol Β· 2025
0.60