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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CUX2
cut like homeobox 2
Chromosome 12 Β· 12q24.11-q24.12
NCBI Gene: 23316Ensembl: ENSG00000111249.15HGNC: HGNC:19347UniProt: O14529
33PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnegative regulation of transcription by RNA polymerase IIextracellular exosomenucleusgenetic developmental and epileptic encephalopathydevelopmental and epileptic encephalopathygoutatrial fibrillation
✦AI Summary

CUX2 is a transcription factor that plays crucial roles in neuronal development and function, particularly in upper cortical layers. The protein regulates neuronal proliferation, dendrite development, and synapse formation through sequence-specific DNA binding 1. During human brain development, CUX2 is expressed in transient compartments including the marginal zone and subplate neurons, marking critical histogenetic events during corticogenesis 2. In mature cortex, CUX2 specifically influences apical dendrite development in layer II-III neurons, complementing CUX1's effects on basal dendrites 3. Loss of CUX2 function leads to facilitation of excitatory synaptic transmission from entorhinal cortex to hippocampus and increased seizure susceptibility 1. The gene is associated with epileptic disorders, with multiple missense variants identified in temporal lobe epilepsy patients 1 and established links to developmental and epileptic encephalopathy 67. In pathological contexts, CUX2-expressing projection neurons show selective vulnerability in multiple sclerosis lesions 4 and exhibit transcriptomic changes in epilepsy 5. Beyond neurological functions, CUX2 also demonstrates tumor suppressor activity in certain cancers by regulating downstream transcriptional targets 67.

Sources cited
1
CUX2 encodes a transcription factor controlling neuronal proliferation, dendrite branching and synapse formation, and its deficiency causes facilitation of excitatory synaptic transmission and increased seizure susceptibility
PMID: 35581205
2
CUX2 is expressed in transient compartments during human fetal neocortical development including marginal zone and subplate neurons
PMID: 33671178
3
CUX2 selectively targets apical dendritic compartments of layer II-III cortical neurons, complementing CUX1's effects on basal dendrites
PMID: 25059644
4
CUX2-expressing projection neurons in upper cortical layers show selective vulnerability and loss in multiple sclerosis lesions
PMID: 31316211
5
L2-3_Cux2 neurons exhibit transcriptomic changes in epilepsy
PMID: 33028830
6
CUX2 acts as tumor suppressor in breast cancer through the KDM5B/SOX17 axis
PMID: 35881915
7
CUX2 prevents malignant progression of gliomas by enhancing ADCY1 transcription
PMID: 36242624
Disease Associationsβ“˜21
genetic developmental and epileptic encephalopathyOpen Targets
0.65Moderate
developmental and epileptic encephalopathyOpen Targets
0.54Moderate
goutOpen Targets
0.45Moderate
atrial fibrillationOpen Targets
0.44Moderate
strokeOpen Targets
0.39Weak
angina pectorisOpen Targets
0.39Weak
Ischemic strokeOpen Targets
0.38Weak
hypertensionOpen Targets
0.38Weak
Intellectual disabilityOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
Autistic behaviorOpen Targets
0.37Weak
Lennox-Gastaut syndromeOpen Targets
0.37Weak
obesityOpen Targets
0.35Weak
cirrhosis of liverOpen Targets
0.34Weak
muscular diseaseOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.33Weak
myocardial infarctionOpen Targets
0.32Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
esophageal cancerOpen Targets
0.29Weak
type 1 diabetes mellitusOpen Targets
0.28Weak
Developmental and epileptic encephalopathy 67UniProt
Pathogenic Variants4
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)Pathogenic
Developmental and epileptic encephalopathy, 67|not provided|CUX2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 590
NM_015267.4(CUX2):c.560del (p.Lys187fs)Likely pathogenic
Developmental and epileptic encephalopathy, 67
β˜…β˜†β˜†β˜†2023β†’ Residue 187
NM_015267.4(CUX2):c.3265C>T (p.Pro1089Ser)Likely pathogenic
CUX2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 1089
NM_015267.4(CUX2):c.2834C>T (p.Thr945Met)Pathogenic
Developmental and epileptic encephalopathy, 67
β˜†β˜†β˜†β˜†β†’ Residue 945
View on ClinVar β†—
Related Genes
PHETA1Protein interaction83%FEZF2Protein interaction70%GPRASP3Shared pathway20%CAPRIN2Shared pathway20%CAPRIN1Shared pathway20%TBC1D24Shared pathway18%
Tissue Expression6 tissues
Liver
100%
Brain
20%
Bone Marrow
8%
Ovary
0%
Lung
0%
Heart
0%
Gene Interaction Network
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CUX2PHETA1FEZF2GPRASP3CAPRIN2CAPRIN1TBC1D24
PROTEIN STRUCTURE
Preparing viewer…
PDB1WH6 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.22–0.38]
RankingsWhere CUX2 stands among ~20K protein-coding genes
  • #11,314of 20,598
    Most Researched33
  • #3,829of 5,498
    Most Pathogenic Variants4
  • #1,860of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedCUX2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neuronal vulnerability and multilineage diversity in multiple sclerosis.
PMID: 31316211
Nature Β· 2019
1.00
2
Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis.
PMID: 33028830
Nat Commun Β· 2020
0.90
3
Adult Upper Cortical Layer Specific Transcription Factor CUX2 Is Expressed in Transient Subplate and Marginal Zone Neurons of the Developing Human Brain.
PMID: 33671178
Cells Β· 2021
0.80
4
CUX2/KDM5B/SOX17 Axis Affects the Occurrence and Development of Breast Cancer.
PMID: 35881915
Endocrinology Β· 2022
0.70
5
CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder.
PMID: 11353453
Am J Med Genet Β· 2001
0.60