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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CNTN4
contactin 4
Chromosome 3 · 3p26.3-p26.2
NCBI Gene: 152330Ensembl: ENSG00000144619.16HGNC: HGNC:2174UniProt: Q8IWV2
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of neuron differentiationnervous system developmentcell-cell adhesion mediator activityhomophilic cell-cell adhesionschizophreniamathematical abilitybipolar disordermajor depressive disorder
✦AI Summary

CNTN4 (contactin 4) is a synaptic adhesion protein that plays crucial roles in nervous system development and synaptic function. CNTN4 promotes dendrite growth and dendritic spine formation, with disruption leading to decreased excitatory synapse numbers and reduced neural activity 1. The protein regulates dendritic spine density through a mechanism dependent on its fibronectin type III (FnIII) domains 1. CNTN4 interacts with amyloid precursor protein (APP) to control neural elongation and contributes to cortical development, with Cntn4-deficient mice showing reduced motor cortex thickness 2. Beyond its neurodevelopmental functions, CNTN4 has clinical significance across multiple domains. Autism-related variants of CNTN4 lack the ability to regulate spine density and neural activity, suggesting involvement in autism spectrum disorder pathogenesis 1. The gene shows associations with antipsychotic treatment response in schizophrenia patients 3 and with thromboxane A2 formation linked to cardiovascular events 4. Additionally, CNTN4 functions as an immune checkpoint molecule, suppressing antitumor T cell responses through APP binding, making it a potential target for cancer immunotherapy 5. Copy number variants affecting CNTN4 are frequently identified in patients with neurodevelopmental disorders 6.

Sources cited
1
CNTN4 promotes dendrite growth and dendritic spine formation; autism variants lack regulatory ability
PMID: 34415325
2
CNTN4 interacts with APP to control neural elongation and contributes to cortical development
PMID: 38745463
3
CNTN4 variants associated with antipsychotic treatment response in schizophrenia
PMID: 29503163
4
CNTN4 variants associated with thromboxane A2 formation and cardiovascular events
PMID: 29258006
5
CNTN4 suppresses antitumor T cell responses by binding APP
PMID: 39392894
6
CNTN4 copy number variants identified in neurodevelopmental disorder patients
PMID: 38674362
Disease Associationsⓘ20
schizophreniaOpen Targets
0.45Moderate
mathematical abilityOpen Targets
0.42Moderate
bipolar disorderOpen Targets
0.40Weak
major depressive disorderOpen Targets
0.37Weak
placental retentionOpen Targets
0.36Weak
ovarian neoplasmOpen Targets
0.35Weak
smoking initiationOpen Targets
0.35Weak
autism spectrum disorderOpen Targets
0.35Weak
lip and oral cavity carcinomaOpen Targets
0.34Weak
liver diseaseOpen Targets
0.31Weak
Dental crowdingOpen Targets
0.30Weak
adverse effectOpen Targets
0.29Weak
response to stimulusOpen Targets
0.29Weak
injuryOpen Targets
0.29Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.29Weak
knee fractureOpen Targets
0.29Weak
StrabismusOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
intelligenceOpen Targets
0.28Weak
DNA methylationOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTPRGProtein interaction96%APPProtein interaction95%SUMF1Protein interaction79%ASTN2Protein interaction77%CDH9Protein interaction75%CDH10Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Heart
77%
Liver
26%
Lung
23%
Ovary
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CNTN4PTPRGAPPSUMF1ASTN2CDH9CDH10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IWV2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.48–0.73]
RankingsWhere CNTN4 stands among ~20K protein-coding genes
  • #7,438of 20,598
    Most Researched62
  • #5,643of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedCNTN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The autism risk gene CNTN4 modulates dendritic spine formation.
PMID: 34415325
Hum Mol Genet · 2021
1.00
2
CNTN4 modulates neural elongation through interplay with APP.
PMID: 38745463
Open Biol · 2024
0.90
3
PMID: 36544657
Ann Transl Med · 2022
0.80
4
Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2).
PMID: 14571131
Cytogenet Genome Res · 2003
0.70
5
Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study.
PMID: 29503163
Lancet Psychiatry · 2018
0.60